development: differentiating cells to become an organism
TRANSCRIPT
Development differentiating cells to become an organism
Cells function differently because they express differentgenes
The proper control of gene expression is critical for proper development
Irreversible packaging of DNA partially explains the loss of totipotency
Often in the form of DNA methylation
Embryonic Stem Cells are totipotent
Adult Stem Cells are pluripotent (only form some cell types)
Fig 1914
Use of stem cells shows promise to cure various diseases by replacing damaged cells
Use of embryonic stem cells has generated controversyhellip Why
What is life When does it begin
Fertilization and mitosis without implantation is common
Use of embryonic stem cells has generated controversyhellip Why
What genetic mechanisms regulateallow development
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
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- Slide 51
- Slide 52
- Slide 53
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- Slide 55
- Slide 56
-
Cells function differently because they express differentgenes
The proper control of gene expression is critical for proper development
Irreversible packaging of DNA partially explains the loss of totipotency
Often in the form of DNA methylation
Embryonic Stem Cells are totipotent
Adult Stem Cells are pluripotent (only form some cell types)
Fig 1914
Use of stem cells shows promise to cure various diseases by replacing damaged cells
Use of embryonic stem cells has generated controversyhellip Why
What is life When does it begin
Fertilization and mitosis without implantation is common
Use of embryonic stem cells has generated controversyhellip Why
What genetic mechanisms regulateallow development
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
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- Slide 51
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- Slide 54
- Slide 55
- Slide 56
-
The proper control of gene expression is critical for proper development
Irreversible packaging of DNA partially explains the loss of totipotency
Often in the form of DNA methylation
Embryonic Stem Cells are totipotent
Adult Stem Cells are pluripotent (only form some cell types)
Fig 1914
Use of stem cells shows promise to cure various diseases by replacing damaged cells
Use of embryonic stem cells has generated controversyhellip Why
What is life When does it begin
Fertilization and mitosis without implantation is common
Use of embryonic stem cells has generated controversyhellip Why
What genetic mechanisms regulateallow development
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
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- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Irreversible packaging of DNA partially explains the loss of totipotency
Often in the form of DNA methylation
Embryonic Stem Cells are totipotent
Adult Stem Cells are pluripotent (only form some cell types)
Fig 1914
Use of stem cells shows promise to cure various diseases by replacing damaged cells
Use of embryonic stem cells has generated controversyhellip Why
What is life When does it begin
Fertilization and mitosis without implantation is common
Use of embryonic stem cells has generated controversyhellip Why
What genetic mechanisms regulateallow development
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
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- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Embryonic Stem Cells are totipotent
Adult Stem Cells are pluripotent (only form some cell types)
Fig 1914
Use of stem cells shows promise to cure various diseases by replacing damaged cells
Use of embryonic stem cells has generated controversyhellip Why
What is life When does it begin
Fertilization and mitosis without implantation is common
Use of embryonic stem cells has generated controversyhellip Why
What genetic mechanisms regulateallow development
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
- Slide 23
- Slide 24
- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
- Slide 32
- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Use of stem cells shows promise to cure various diseases by replacing damaged cells
Use of embryonic stem cells has generated controversyhellip Why
What is life When does it begin
Fertilization and mitosis without implantation is common
Use of embryonic stem cells has generated controversyhellip Why
What genetic mechanisms regulateallow development
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
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- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
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- Slide 33
- Slide 34
- Slide 35
- Slide 36
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- Slide 38
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- Slide 40
- Slide 41
- Slide 42
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- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Use of embryonic stem cells has generated controversyhellip Why
What is life When does it begin
Fertilization and mitosis without implantation is common
Use of embryonic stem cells has generated controversyhellip Why
What genetic mechanisms regulateallow development
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
- Slide 23
- Slide 24
- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
- Slide 32
- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
What is life When does it begin
Fertilization and mitosis without implantation is common
Use of embryonic stem cells has generated controversyhellip Why
What genetic mechanisms regulateallow development
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
- Slide 23
- Slide 24
- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
- Slide 32
- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Fertilization and mitosis without implantation is common
Use of embryonic stem cells has generated controversyhellip Why
What genetic mechanisms regulateallow development
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
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- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Use of embryonic stem cells has generated controversyhellip Why
What genetic mechanisms regulateallow development
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
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- Slide 16
- Slide 17
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- Slide 20
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- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
What genetic mechanisms regulateallow development
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
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- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Fig 2327
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
- Slide 23
- Slide 24
- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
- Slide 32
- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Flower partsComplexity from a few simple genes
4 whorls of a flowerFig 2323
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
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- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Each whorl expresses a specific combination of three genes
Fig 2324
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
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- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
How does a cell know where it is
Fig 232
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
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- Slide 16
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- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Drosophila Development
Fig 234
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
- Slide 23
- Slide 24
- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
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- Slide 33
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- Slide 35
- Slide 36
- Slide 37
- Slide 38
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- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Polarity development by mRNA localization
Fig 235
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
- Slide 23
- Slide 24
- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
- Slide 32
- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Hox genes regulate the identity of body parts Fig 2311
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
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- Slide 16
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- Slide 22
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- Slide 25
- Slide 26
- Slide 27
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- Slide 29
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- Slide 33
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- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
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- Slide 42
- Slide 43
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- Slide 45
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- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Expression of hox genes in the embryo give rise to different adult body parts
embryo
adult
Fig 2311
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
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- Slide 16
- Slide 17
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- Slide 19
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- Slide 29
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- Slide 31
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- Slide 33
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- Slide 35
- Slide 36
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- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
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- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Drosophila and vertebrate Hox protein show striking similarities (500 million years since common ancestor)
Fig 2316
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
- Slide 23
- Slide 24
- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
- Slide 32
- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Many hox proteins have common sequences(these are from Drosophila)
Fig 2313
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
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- Slide 21
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- Slide 25
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- Slide 36
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- Slide 38
- Slide 39
- Slide 40
- Slide 41
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- Slide 44
- Slide 45
- Slide 46
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- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
helix-turn-helix a common DNA-binding motif
Fig 2313
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
- Slide 23
- Slide 24
- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
- Slide 32
- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Many developmental genes are transcription factors
these are from Drosophila
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
- Slide 23
- Slide 24
- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
- Slide 32
- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
- Slide 23
- Slide 24
- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
- Slide 32
- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Reporter gene
protein
coding region
promoter reporter gene (luciferase etc)
easily visualized protein
promoter
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1219
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
- Slide 23
- Slide 24
- Slide 25
- Slide 26
- Slide 27
- Slide 28
- Slide 29
- Slide 30
- Slide 31
- Slide 32
- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Interaction of genes can set gradients in cellsorganisms that signal how different regions should develop
ldquoIntroduction to Genetic Analysisrdquo 9th ed copy2008 by Griffiths et al Fig 1218
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
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- Slide 24
- Slide 25
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- Slide 31
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- Slide 33
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- Slide 38
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- Slide 42
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- Slide 48
- Slide 49
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- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Why change gene expressionbullDifferent cells need different componentsbullResponding to the environmentbullReplacement of damagedworn-out parts
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
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- Slide 30
- Slide 31
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- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
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- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
The order of Hox genes parallels the order of body parts in which they are expressed
Fig 2317
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
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- Slide 27
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- Slide 30
- Slide 31
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- Slide 33
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- Slide 35
- Slide 36
- Slide 37
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- Slide 40
- Slide 41
- Slide 42
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- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
25000 12
How are genomes organized Tbl 202
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
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- Slide 44
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- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Map of human chromosome 20
How does the organization of a genome affect its function
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
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- Slide 21
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- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Figure 7-113 Molecular Biology of the Cell 4th ed by Alberts et al(Adapted from S Baxendale et al Nat Genet 1067ndash76 1995)
Comparison of Fugu and human huntingtin gene
75 X bigger
both have 67 exons connected by lines
(green indicates transposons prevalent in human version)
(puffer fish)
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
- Slide 22
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- Slide 25
- Slide 26
- Slide 27
- Slide 28
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- Slide 30
- Slide 31
- Slide 32
- Slide 33
- Slide 34
- Slide 35
- Slide 36
- Slide 37
- Slide 38
- Slide 39
- Slide 40
- Slide 41
- Slide 42
- Slide 43
- Slide 44
- Slide 45
- Slide 46
- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Some genes have several similar sequences within the genome known as a gene family
Fig 87
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
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- Slide 56
-
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Fig 87
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
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- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Different members of the hemoglobin gene family are expressed at different developmental stages
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
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- Slide 49
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- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
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- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Pseudogenes have the structure of a gene but are not expressed
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
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-
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
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- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Transposons mobile DNA
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
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- Slide 20
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- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Transposons comprise much of human DNA
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
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- Slide 51
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- Slide 54
- Slide 55
- Slide 56
-
Fig 1712C
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
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- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
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- Slide 15
- Slide 16
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- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
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- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans have more transposons than chimps
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
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- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
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- Slide 21
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- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
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- Slide 14
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- Slide 47
- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
- Slide 9
- Slide 10
- Slide 11
- Slide 12
- Slide 13
- Slide 14
- Slide 15
- Slide 16
- Slide 17
- Slide 18
- Slide 19
- Slide 20
- Slide 21
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- Slide 48
- Slide 49
- Slide 50
- Slide 51
- Slide 52
- Slide 53
- Slide 54
- Slide 55
- Slide 56
-
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
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An active copy of the L1 transposon lsquojumpedrsquo into the factor VIII gene and caused hemophilia
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
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Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
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Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
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Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
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QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
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Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
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-
Mil
lion
s of
Hec
tare
s
Texas =70 ha
Final topic before exam 2hellip BiotechGlobal area planted with GM crops
httpwwwgmo-compassorgengagri_biotechnologygmo_planting257global_gm_planting_2006html
- PowerPoint Presentation
- Slide 2
- Slide 3
- Slide 4
- Slide 5
- Slide 6
- Slide 7
- Slide 8
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