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72 Cards in this Set

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Hardy Weinberg

Allele genotype frequencies in HW equilibrium do't change from one generation to the next



AS LONG AS 5 ASSUMPTION ARE MET

5 assumptions of HW equilibrium

1) no mutation



2) random mating



3) no selection



4) no gene flow



5) infinitely large population size

Infinitely large population size

No populations are infinitely large and therefore we get



STOCHASTIC CHANGES

Stochastic changes results in

GENETIC DRIFT

NS AND GD

NS is NOT random. Favours mutations that give adaptive advantage



=



ADAPTIVE EVOLUTION



Genetic Drift

Random fluctuations in allele frequencies occur as a result of "sampling error" between generations in finite populations


Non adaptive elvolution

replacement of old alleles by new (and trait they confer)



Wright 1929

"in a freely interbreeding population of limited size, gene frequency shows random variation"

Genetic Drift

Genetic Drift

Fundamental Evolutionary Force

5 fundamental Evolutionary forces

Selection


Gene flow


Genetic drift


Mutation


Recombination


Frequency between 1 generation and next

V= p(1-p)/2n



P = allele frequency


V = variance


Equation

As populations get bigger...

Allele frequencies are more similar from one generation to the next

NS & GD

All loci/alleles are subject to GD but NOT necessarily to NS

Genetic drift is a

Null hypothesis to explain adaptive evolutionary change

V= p(1-p)/2N

P = 0.5



IF SAMPLE SIZE = 10



V = 0.5 (1-0.5)/20



V = 0.25/20



V = 0.0125



IF SAMPLE SIZE = 1000



V = 0.5(1-0.5)/2000



V = 0.25/2000



V = 0.000125



HIGHER VARIENCE IN SMALLER POPULATIONS



Higher varience in smaller populations

= GD is MOST important in SMALL populations

Loss in heterozygosity

As allele frequencies drift toward fixation or loss, the frequency of heterozygous decreases

HM eq. Equation

p^2 + 2pq + q^2 =1



2pq =

Frequency of H



p = frequency of allele A1



q = frequency of allele A2

As alleles become fixed or lost in a population

Heterozygosity falls over time

Hg+1

Heterozygosity of NEXT generation

Hg

Heterozygosity in CURRENT generation

N =

Number of individuals

2N =

Number of gene copies

Value of (1- 1/2N)

Always between



0.5 (when N =1)



And



1 (when N = infinite)


When N=1

(1-1/2N) = 0.5

When N = infinate

(1-1/2N) = 1

H expected frequency in next gen

Is ALWAYS less than the H frequency of current generation

If N is LARGE

Decrease in H is small

If N is small

Decrease in H is LARGE

Ho =

Heterozygosity of original population

Founder effect

The genetic drift resulting from when a new population is formed by a small number of colonists

H in founder effect

Is not reduced by much in the first generation but will suffer loss of genetic variation



Rare alleles are likely to be lost

When founder N = 2

H is reduced by 25% per generation

Founder effect equation

Ho+1 =Ho (1-1/2N)



N = number of founders



Ho = homozygosity of original population

GD is a

Predominant force at the genetic, phenotypic, and cultural level

GD is unlike NS

Because it acts on genetic variation in a predictable manner, in relation to population size

We compare patterns of DNA variation

From REAL populations to reconstruct population history

Examples of GD - Berthelot's pipit

GD can explain a 60% variation at neutral genes and 30% variation in morphology

Bottlenecks are a better predictor

Of morphological variation than the environment

What can be stronger than selection?

Drift

Cultural change

Can be used to model cultural change

Berthelot's pipet

Anthus berthelotii

Seychelles Warbler

Acrocephalus sechellensis

GD examples - Seychelles Warbler

Already endangered when discovered



Compared DNA between museum and contemporary specimens



Used simulations to model GD and reconstruct population history



Fount that Seychelles warblers existed in their thousands across region a few hundred years ago.

Ne =

Effective population size

Census size

Number of individuals in a population

Factors influencing Ne

1) variation in number of progeny



2) overlapping generations



3) unequal numbers of males and females



4) fluctuations in population size

Ne

Effective population size

Effective population size

The size of an ideal theoretical population that would lose heterozygosity at the same rate as the actual population

Variation in number of progeny

If some individuals have more offspring than others, Ne will be REDUCED

Overlapping generations

Individuals mate over multiple generations




Offspring may mate with parents



They carry identical copies of same genes



Therefore effective number of genes in the population is REDUCED

Unqual numbers of males and females

Ne = 4(Nm X Nf)/Nm+Nf



Nm =number of males



Nf = number of females



IF EQUAL



50:50



Ne = 4(50 * 50)\50+50



Ne = 10000/100



Ne = 100



IF UNEQUAL



20 males, 80 females



Ne = 4(20 * 80)/ 20+80



Ne = 6400/100



Ne = 64

Fluctuations in population size

Ne is more strongly affected when population is small.



Using harmonic mean



Nh = K / (1/n + 1/n2 +..........1/nk)



If N of breeding adults in 5 successive generations (K) =



100, 150, 25, 150, 125



Ne = 5 / ( 1/100 + 1/150 + 1/25 + 1/150 + 1/125/



Ne = 5 / (0.01+0.0666+0.04+0.0066+0.008)



Ne = 70


Human Ne

Currently tens of thousands.

Human census size

>7, 400, 000, 000

Small Ne leads to

Drift

Drift leads to

Loss of heterozygosity



And any associated benefits (Hz advantage)



Loss of genetic diversity (loss of adaptive potential)


Hz advantage

Heterozygosity associated benefits

F =

Coefficient of inbreeding

Inbreeding.

Mating between related individuals



Always some degree in small populations



Inbreeding coefficient

Increases more rapidly in small populations than in large population

Inbreeding coefficient formula

ft+1 = 1/2N + (1 - 1/2N) ft

F =

Inbreeding coefficient

Inbreeding depression

Reduces heterozygosity



Exposes rare deleterious recessive alleles (as homozygous)



Loft of genetic diversity


Loss of genetic diversity

Inability to adapt to new changes



E.g. New diseases

Reduced heterozygosity

Reduces associated benefits (heterozygote advantage)

Exposure of..

Rare deleterious recessive alleles


(as homozygotes)

Florida panther

Puma concolor coryi

Puma concolor coryi

1) Tail kink


2) Cryptochidism (>80% males) and deformed sperm


3)Poor fecundity


4)High parasite load and disease susceptibility


5) Atrial septal defects

Example of inbreeding depression

Puma concolor coryi

......Effects >80% male Puma

Cryptorchidism