Biased gene conversion skews allele frequencies in human populations, increasing the disease burden of recessive alleles.

ABSTRACT: Gene conversion results in the nonreciprocal transfer of genetic information between two recombining sequences, and there is evidence that this process is biased toward G and C alleles. However, the strength of GC-biased gene conversion (gBGC) in human populations and its effects on hereditary disease have yet to be assessed on a genomic scale. Using high-coverage whole-genome sequences of African hunter-gatherers, agricultural populations, and primate outgroups, we quantified the effects of GC-biased gene conversion on population genomic data sets. We find that genetic distances (FST and population branch statistics) are modified by gBGC. In addition, the site frequency spectrum is left-shifted when ancestral alleles are favored by gBGC and right-shifted when derived alleles are favored b

SUBMITTER: Lachance J 

PROVIDER: S-EPMC4185123 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature