Sep 10, 2004

Disentangling the effects of demography and selection in human history

Molecular Biology and Evolution
Jason E Stajich, Matthew W Hahn

Abstract

Demographic events affect all genes in a genome, whereas natural selection has only local effects. Using publicly available data from 151 loci sequenced in both European-American and African-American populations, we attempt to distinguish the effects of demography and selection. To analyze large sets of population genetic data such as this one, we introduce "Perlymorphism," a Unix-based suite of analysis tools. Our analyses show that the demographic histories of human populations can account for a large proportion of effects on the level and frequency of variation across the genome. The African-American population shows both a higher level of nucleotide diversity and more negative values of Tajima's D statistic than does a European-American population. Using coalescent simulations, we show that the significantly negative values of the D statistic in African-Americans and the positive values in European-Americans are well explained by relatively simple models of population admixture and bottleneck, respectively. Working within these nonequilibrium frameworks, we are still able to show deviations from neutral expectations at a number of loci, including ABO and TRPV6. In addition, we show that the frequency spectrum of mutations--...Continue Reading

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Mentioned in this Paper

In Silico
Short Tandem Repeat
Trpv6 protein, rat
Blood Group H Type 1 Antigen
Genetics, Population
Recombination, Genetic
Chromosomes, Human
Calcium Channel
Transient Receptor Potential Cation Channel Subfamily V Member 6
European Continental Ancestry Group

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