today: some things mendel did not tell us... exam #3 t 12/2 in class, final sat. 12/6

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Today: some things Mendel did Today: some things Mendel did not tell us... not tell us... Exam #3 T 12/2 in class, Final Exam #3 T 12/2 in class, Final Sat. 12/6 Sat. 12/6

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Page 1: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Today: some things Mendel did not tell us...Today: some things Mendel did not tell us...Exam #3 T 12/2 in class, Final Sat. 12/6Exam #3 T 12/2 in class, Final Sat. 12/6

Page 2: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Single genes controlling a single trait are unusual. Inheritance of most genes/traits is much more complex…

Dom. Rec. Rec. Dom.

Page 3: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

PhenotypeGenotype

Genes code for proteins (or RNA). These gene products give rise to traits…

It is rarely this simple.

Page 4: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Fig 4.4

Page 5: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Fig4.7

Sickle-cell anemia is caused by a point mutation

Page 6: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Sickle and normal red blood cells Fig4.7

Page 7: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Mom = HS Dad = HS

H or S

H or S

HH

HS SS

HS possible offspring75% Normal25% Sickle-cell

Mom

Dad

S=sickle-cell

H=normal

Sickle-Cell Anemia:A dominant or recessive allele?

Fig4.7

Page 8: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Coincidence of malaria and sickle-cell anemia

Fig 24.14

Page 9: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Mom = HS Dad = HS

H or S

H or S

HH

HS SS

HS

possible offspringOxygen transport:75% Normal25% Sickle-cell

Malaria resistance:75% resistant25% susceptible

Mom

Dad

Sickle-Cell Anemia:A dominant or recessive allele?

S=sickle-cell

H=normal

Fig4.7

Page 10: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

The relationship between genes and traits is often complex

Complexities include:

• Complex relationships between alleles

Page 11: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Sex determination is normally inherited by whole chromosomes or by number of chromosomes.

Fig 3.18

Page 12: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

X/Y chromosomes in humans

Page 13: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

The X chromosome has many genes; the Y chromosome only has genes for maleness.

Page 14: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Human sex chromosomes

(includes Mic2 gene)

Fig 4.14

Page 15: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Sex-linked traits are genes located on the X chromosome

Page 16: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Color Blind Test

Page 17: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Sex-linked traits: Genes on the X chromosome

No one affected, female carriers

A= normal; a= colorblind

colorblindnormal

similar to Fig 4.13

Page 18: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Sex-linked traits: Genes on the X chromosome

50% of males affected, 0 % females affected

A= normal; a= colorblind

normalnormal

similar to Fig 4.13

Page 19: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Sex-linked traits: Genes on the X chromosome

50% males affected, 50% females affected

A= normal; a= colorblind

colorblindnormal

similar to Fig 4.13

Page 20: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Sex-linked traits: Genes on the X chromosome

No one affected, female carriers

50% of males affected, 0 % female affected

50% males affected, 50% females affected

A= normal ; a= colorblind

similar to Fig 4.13

Page 21: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

males and females may have different numbers of chromosomes

Fig 3.18

Page 22: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Tbl 7.1

dosage compensation

Page 23: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

At an early stage of embryonic development

The epithelial cells derived from this

embryonic cell will produce a patch of

white fur

While those from this will produce a patch of black fur

Fig 7.4

Page 24: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Promotes compaction

Prevents compaction

Mammalian X-inactivation involves the interaction of 2 overlapping genes.

Page 25: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

The Barr body is replicated and both

copies remain compacted

Barr body compaction is heritable within an individual

Page 26: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

• A few genes on the inactivated X chromosome are expressed in the somatic cells of adult female mammals– Pseudoautosomal genes

(Dosage compensation in this case is unnecessary because these genes are located both on the X and Y)

– Up to a 25% of X genes in humans may escape full inactivation

• The mechanism is not understood

Page 27: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Epigenetics: http://www.pbs.org/wgbh/nova/sciencenow/3411/02.html

Lamarck was right? Sort of…

Image from: http://www.sparknotes.com/biology/evolution/lamarck/section2.rhtml

Page 28: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Genomic Imprinting

• Genomic imprinting is a phenomenon in which expression of a gene depends on whether it is inherited from the male or the female parent

• Imprinted genes follow a non-Mendelian pattern of inheritance

– Depending on how the genes are “marked”, the offspring expresses either the maternally-inherited or the paternally-inherited allele **Not both

Page 29: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Genomic Imprinting:Methylation of genes during gamete production.

Page 30: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

A hypothetical example of imprinting

A=curly hair

a=straight hair

B=beady eyes

b=normal

*=methylation

A* in males

B* in females

aB*

aB* A*

bA*b

Page 31: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

A hypothetical example of imprinting

A=curly hair

a=straight hair

B=beady eyes

b=normal

*=methylation

A* in males

B* in females

A*abB*

A*abB*

aB*

aB* A*

bA*b

Page 32: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

A hypothetical example of imprinting

A=curly hair

a=straight hair

B=beady eyes

b=normal

*=methylation

A* in males

B* in females

A*abB*

A*abB*

A*abB

AabB*

aB*

aB* A*

bA*b

Page 33: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

A hypothetical example of imprinting

A=curly hair

a=straight hair

B=beady eyes

b=normal

*=methylation

A* in males

B* in females

A*abB*

A*abB*

A*abB

AabB*

A*b, A*B,ab, aB

Ab, AB*,ab, aB*

aB*

aB* A*

bA*b

similar to Fig 7.10

Page 34: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

Thus genomic imprinting is permanent in the somatic cells of an animal

–However, the marking of alleles can be altered from generation to generation

Page 35: Today: some things Mendel did not tell us... Exam #3 T 12/2 in class, Final Sat. 12/6

• Genomic imprinting must involve a marking process

• At the molecular level, the imprinting is known to involve differentially methylated regions–They are methylated either in the oocyte or

sperm• Not both

Imprinting and DNA Methylation