High mutation rates explain low population genetic divergence at copy-number-variable loci in Homo sapiens.

ABSTRACT: Copy-number-variable (CNV) loci differ from single nucleotide polymorphic (SNP) sites in size, mutation rate, and mechanisms of maintenance in natural populations. It is therefore hypothesized that population genetic divergence at CNV loci will differ from that found at SNP sites. Here, we test this hypothesis by analysing 856 CNV loci from the genomes of 1184 healthy individuals from 11 HapMap populations with a wide range of ancestry. The results show that population genetic divergence at the CNV loci is generally more than three times lower than at genome-wide SNP sites. Populations generally exhibit very small genetic divergence (G_st = 0.05 ± 0.049). The smallest divergence is among African populations (G_st = 0.0081 ± 0.0025), with increased divergence among non-A

SUBMITTER: Hu XS 

PROVIDER: S-EPMC5320550 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature