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Genes with monoallelic expression contribute disproportionately to genetic diversity in humans
  • Published Date:
    Jan 25 2016
  • Source:
    Nat Genet. 48(3):231-237.
Filetype[PDF-1.25 MB]

  • Pubmed ID:
  • Pubmed Central ID:
  • Description:
    An unexpectedly large number of human autosomal genes are subject to monoallelic expression (MAE). Our analysis of 4,227 such genes uncovers surprisingly high genetic variation across human populations. This increased diversity is unlikely to reflect relaxed purifying selection. Remarkably, MAE genes exhibit an elevated recombination rate and an increased density of hypermutable sequence contexts. However, these factors do not fully account for the increased diversity. We find that the elevated nucleotide diversity of MAE genes is also associated with greater allelic age: variants in these genes tend to be older and are enriched in polymorphisms shared by Neanderthals and chimpanzees. Both synonymous and nonsynonymous alleles of MAE genes have elevated average population frequencies. We also observed strong enrichment of the MAE signature among genes reported to evolve under balancing selection. We propose that an important biological function of widespread MAE might be the generation of cell-to-cell heterogeneity; the increased genetic variation contributes to this heterogeneity.

  • Document Type:
  • Collection(s):
  • Funding:
    R01 GM078598/GM/NIGMS NIH HHS/United States
    R01 GM061936/GM/NIGMS NIH HHS/United States
    DP1 GM106412/GM/NIGMS NIH HHS/United States
    R01 GM114864/GM/NIGMS NIH HHS/United States
    GM105857/GM/NIGMS NIH HHS/United States
    U54 LM008748/LM/NLM NIH HHS/United States
    R01 GM61936/GM/NIGMS NIH HHS/United States
    5DP1 GM106412/DP/NCCDPHP CDC HHS/United States
    R01 GM105857/GM/NIGMS NIH HHS/United States
    R01 MH101244/MH/NIMH NIH HHS/United States
    MH101244/MH/NIMH NIH HHS/United States
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