male parents generally do not contribute cytoplasm to zygotes so… mitochondria and chloroplasts...

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Page 1: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 2: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 3: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 4: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 5: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 6: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 7: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 8: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 9: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 10: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 11: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 12: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Male parents generally DO NOT

Contribute cytoplasm tozygotes

SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Page 13: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 14: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 15: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 16: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Cytokinesis( Cell Division)

- actin microfilaments

and Karyokinesis( Nuclear division, including mitosis)

-tubulin microtubules

Page 17: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Model for organelle divisionFrom Dec 2003 Science

..…without implications for segregation

Page 18: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 19: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 20: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 21: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 22: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 23: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 24: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 25: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 26: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 27: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 28: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 29: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 30: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Maternal effect )NOT Maternal inheritance(

Page 31: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 32: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Genetic/genomic imprinting

Page 33: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 34: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Maternal imprinting

Page 35: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Paternal imprinting

Page 36: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 37: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

If neither copy of 15q11 has paternal imprinting, the result is Prader-Willi syndrome )characterised by hypotonia, obesity, and

hypogonadism .)

If neither copy has maternal imprinting, the result is Angelman syndrome )characterised by epilepsy, tremors, and a perpetually smiling facial expression( .

Page 38: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

גנטיקה של אוכלוסיותגנטיקה של אוכלוסיות

Page 39: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 40: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 41: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 42: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 43: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 44: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 45: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Formula for allele frequency, based on knowledge of genotypes

Page 46: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

A 3 allele case

Page 47: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

p = freq of IB = freq B )IBIB( + ½ freq of B )IBi( + ½ freq of AB )IBIA(q = freq of IA … =r = freq of i… =

p + q + r = 1

In 3 allele case, same mathematical treatment

Page 48: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

YET:Populations with different genotypes can have the same allele frequency

Page 49: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

BUT, if there are random matings, the genotype frequency of offspring is based on solely on the allele freq.

In next generation

Hardy-Weinberg (H-W) Law

&)Chetverikov(

Page 50: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 51: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

YET, if there are random matings, the genotype frequency of offspring is based on solely on the allele freq.

In this case:

In next generation

Hardy-Weinberg (H-W) Law

Populations NOT in H-W equilibrium

Page 52: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

If the processes below do not occur, a population is in Hardy-Weinberg )HW( equilibrium, the following are unchanged:

Allele frequenciesGenotype frequencies

Phenotype frequencies

Page 53: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 54: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

TEST: if these populations are in H-W equilibrium, then:

Page 55: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

If a population is in Hardy-Weinberg equilibrium,

the allele,genotype, and phenotype frequencies will

be stable as long as the HW requirements hold

H-W בשיווי משקל -- הרבה אכלוסיותאז... תיאור של אכלוסיה לפי תדירויות

מתאים )ו'חסכוני'( - של אללים

Page 56: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Genotypefrequencies

2 allele case

Page 57: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Genotypefrequencies

M/M

M/N

N/N

p)M(q)N(

Page 58: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Percent

LocationMMMNNNpq

Iceland31.251.517.300.570.43

Greenland83.515.60.90.920.08

We see HW equilibrium for ‘breeding populations’

We don’t expect HW for, say: the city of New York City Lots of immigration

Not random matings, but many distinct sub-groups

How do HW populations “start” with different allele frequecies? In human populations, often small founder populations:

BUT, MANY human populations are in H-W equilibrium, for example- MN tables we just saw, and:

Page 59: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

How do HW populations “start” with different allele frequecies? In human populations, often small founder populations:

Percent

LocationMMMNNNpq

Iceland31.251.517.300.570.43

Greenland83.515.60.90.920.08

Page 60: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

If the processes below do not occur, a population is in Hardy-Weinberg )HW( equilibrium, the following are unchanged:

Allele frequenciesGenotype frequencies

Phenotype frequencies

If these processes DOoccur, the populations

change.-Each process can be

studied and quantitated

Page 61: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 62: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Selection of allele A: preferential survival

Page 63: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Haplotype

Page 64: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Inbreeding

0.5 X 0.5

Page 65: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Migrationללמוד בבית על

Page 66: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

P is the allelic frequency in the donor population And p0 is the original frequency among the recipients

M-migration rate

Source of variation, deviation from HW:migration )M( into a population

Page 67: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

OriginallyYamane – not resistance to Gefilte-fish

Poland – 0.42 are resistance to Gefilte-fish

Current- among Yamane 0.046 are resistance

Thus Ptotal 0.046-0 P-P0 is 0.42-0

M= 0.046/0.42=1.095

Page 68: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 69: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Inbreeding

Page 70: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Source of variation: deviation from HW:mutations have a slow effect on allele frequency )here, of w.t.(:

Page 71: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 72: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 73: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 74: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS
Page 75: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Pseudo male - female cross in neurospora

Jan 3 start

Page 76: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Allele names according to phenotype

Wild type

amorph

hypomorph

hypermorph

RR

RR

neomorph

R~

R~R~

R~

NULL

Page 77: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS

Standard Dominant – Recessive

Haploinsufficiency

Page 78: Male parents generally DO NOT Contribute cytoplasm to zygotes SO… mitochondria and chloroplasts are MATERNAL CONTRIBUTIONS