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Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution lection change allele frequencies and if so, how qu Darwinian synthesis: Evolution = change of allele frequencies

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Page 1: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution

I. Motivation Can natural selection change allele frequencies and if so, how quickly???

With the neo Darwinian synthesis: Evolution = change of allele frequencies

Page 2: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Developing PopulationGeneticModels

Page 3: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

II. Null Situation, No Evolutionary Change Hardy-Weinberg Equilibrium

Prob(choosing A) = pProb(choosing a) = q

Probability of various combinations of A and a = (p + q)2=

Page 4: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 5: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Haploid sperm and eggs fuse randomly with respect to genotype:

Page 6: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 7: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 8: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 9: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 10: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 11: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 12: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Sampling of haploid gametes represents binomial sampling: (2 gametes/zygote)

Prob(choosing A1) = pProb(choosing A2) = q

Probability of various combinations of A1 and A2 = (p + q)2=

Page 13: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 14: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 15: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

p2 + p(1-p) = p

Page 16: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

III. 4 modes of Evolution

Page 17: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

IV. Natural Selection

Page 18: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 19: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Fitness- the RELATIVE ability of an individual to survive and reproduce compared to other individuals in the SAME population

abbreviated as w

Selection- differences in survivorship and reproduction among individuals associated with the expression of specific values of traits or combinations of traits

natural selection- selection exerted by the natural environment, target = fitnessartificial selection- selection exerted by humans target = yield

selection coefficient is abbreviated as s

w = 1-s

Page 20: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 21: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

q’ – q = change in q from ONE generation to the Next

= (q2)wrr + (pq)wRr -q W

change(q) = pq[ q(wrr – wRr) + p(wRr – wRR)]

_________________________ - W

explore with selection against homozygote(haploid, diploid, tetraploid)

Page 22: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

q - q’ = -spq2

w

change(q) = pq[ q(wrr – wRr) + p(wRr – wRR)]

_________________________

W

For selection acting only against recessive homozygote:

Page 23: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Haploid Selection:

qWr – q(pWR + QWr) the second term is mean fitnessremember mean fitness for haploid is pWR + q Wr

q(1-s) – q(p(1) + q(1-s))

q(1-s) – q(p + q – qs)

q(1-s) – q(1-qs)

q –qs – q + qqs

-qs + qqs

-qs(1-q)

-qps = -spq/ mean fitness

Page 24: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

How quickly can selection change allele frequencies??

theory:

for selection against a lethal recessive in the homozygote condition

say RR Rr rr and rr is lethal (dies before reproducing)

t = 1/qt - 1/qo

t is number of generations

Page 25: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 26: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Persistent selection can change allele frequencies: Heterozygote has intermediate fitness

Page 27: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

V. Examples

Page 28: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 29: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Natural Selection and HIV

Page 30: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Evolution in laboratory populations of flour beetles

Page 31: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 32: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Selection favoring the Heterozygote

Page 33: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Sickle Cell Anemia

and the evolution of resistance to

malaria:

The case for

Heterozygote Advantage

Page 34: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

change(q) = pq[ q(wrr – wRr) + p(wRr – wRR)]

_________________________ - W

with selection against either homozygote, heterozygote is favored wrr = 1-s2, wRR = 1-s1, wRr = 1:

q at equilibrium = s1/(s1 + s2)

with Rr favored, always find R, r alleles in population

Page 35: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

APPLICATION:

Can we calculate the selection coefficients on alleles associated with Sickle Cell??

Sickle Cell Anemia:

freq of s allele (q) = 0.17

0.17 = s1/(s1 + s2)

if s2 = 1, then s1 = 0.2

then the advantage of Ss heterozygotes is 1/0.8 = 1.25 over the SS homozygote

Page 36: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Is cystic fibrosis an example of heterozygote superiority??

Page 37: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 38: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 39: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Selection acting against the Heterozygote

Page 40: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 41: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 42: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Frequency-dependent selection in Elderflower orchids

Page 43: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 44: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

VI. Mutation and Selection

Page 45: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 46: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if
Page 47: Mendelian Genetics in Populations: Selection and Mutation as Mechanisms of Evolution I.Motivation Can natural selection change allele frequencies and if

Mutation Selection Balance

q = μ/s

Examine case of cystic fibrosis

Sickle cell anemia