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

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  • Xin-Sheng Hu
  • Francis C Yeh
  • Yang Hu
  • Deng Li-Ting
  • Richard Ennos
  • Xiaoyang Chen

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Original languageEnglish
Article number43178
JournalScientific Reports
Early online date22 Feb 2017
Publication statusE-pub ahead of print - 22 Feb 2017


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 (Gst=0.05±0.049). The smallest divergence is among African populations (Gst=0.0081±0.0025), with increased divergence among non-African populations (Gst=0.0217±0.0109) and then among African and non-African populations (Gst=0.0324±0.0064). Genetic diversity at CNV loci is high in African populations (~0.13), low in Asian populations (~0.11), and intermediate in the remaining 11 populations. Few significant linkage disequilibria (LDs) occur between the genome-wide CNV loci. Patterns of gametic and zygotic LDs indicate the absence of epistasis among CNV loci. Mutation rate is about twice as large as the migration rate in the non-African populations, suggesting that the high mutation rates play a dominant role in producing the low population genetic divergence at CNV loci.

    Research areas

  • copy number variation, population structure, mutation, gene flow, hapMap

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