Coop Flashcards
Def. Evolution
Descent with modification; changes in allele freq over time in populations
If mutation rates per base are low what causes large #’s of mutations?
Large # of individuals in population or large genome size
Pairwise diversity
Fraction of sites that differ between two sequences chosen at random
Heterozygosity
Fraction of sites where 1 individual is heterozygous
Hardy-Weinberg assumes
At least 1 generation random mating
Linkage Disequilibrium & equation for D
The non-random association (covariance) of alleles at different sites in the genome in a population.
Dab=Pab-Pa*Pb
What creates LD?
Genetic drift and Hitchhiking
Epistatic selection*
Assortative Mating: Inbreeding – Population structure and admixture – Assortative mating by phenotype*
Example types of neutral alleles (4)
1) A synonymous change in a codon. • 2) A non-‐synonymous change that replaces one amino-‐acid with a funconally similar one.
3) A non-‐synonymous change which produces a large change in a phenotype on which selecon no longer acts
4) not protein coding or important to regulation
Effective pop size Ne
size of an idealized population in which pop size is constant, variance in reproductive success is low, anddriftoccurs at the same rate as that in the actual population of interest
Molecular clock & evidence
The expected number of neutral substitutions = 2T µ i.e. substitutions occur at a linear rate; evidence comes from linear rates of protein evolution across species with different generation times but similar mutation rates
Neutral theory expectation for dN/dS
subst./site nonsynonymous/synonymous:
dN/dS = 1
Expected dN/dS for a gene coding for an important protein (constrained)
Expected dN/dS for a gene Under directional selection; natural example
> 1; vertebrate immune system
Why do you get incomplete lineage sorting?
2 alleles don’t coalesce before the next earliest species divergence… So the gene has a different tree than the species..even when species B and C are more related, A coalesces with B first (less distant past), then C.
What does the Frequency spectrum of alleles look like in a recently expanded population?
Excess of singletons
What does the Frequency spectrum of alleles look like in a recently bottleneckedpopulation?
excess of intermediate frequencies (from mutations in pre-bottleneck branches)
What does the Frequency spectrum of alleles look like in constant size pop evolving neutrally?
Theta/i, eg theta/2 doubles, theta singletons
What is the nearly neutral theory and some evidence to support ?
Levels of constraint aren’t absolute but determined in part by Ne; rodents have larger Ne than primates and so evolve slower
To power studies of demographics through time you want more individuals or loci?
Loci bc they’re inherited independently and most individuals will coalesce rapidly