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  Genes with monoallelic expression contribute disproportionately to genetic diversity in humans

Savova, V., Chun, S., Sohail, M., McCole, R. B., Witwicki, R., Gai, L., et al. (2016). Genes with monoallelic expression contribute disproportionately to genetic diversity in humans. Nature Genetics, 3493. doi:10.1038/ng.3493.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0029-B5D0-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002B-AFD7-E
Genre: Journal Article

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 Creators:
Savova, Virginia, Author
Chun, Sung, Author
Sohail, Mashaal, Author
McCole, Ruth B, Author
Witwicki, Robert, Author
Gai, Lisa, Author
Lenz, Tobias L.1, Author              
Wu, C-ting, Author
Sunyaev, Shamil R, Author
Gimelbrant, Alexander A, Author
Affiliations:
1Emmy Noether Research Group Evolutionary Immunogenomics, Department Evolutionary Ecology, Max Planck Institute for Evolutionary Biology, Max Planck Society, ou_2068286              

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Free keywords: Epigenetics; population genetics
 Abstract: 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.

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Language(s): eng - English
 Dates: 2014-12-142015-12-232016-01-25
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1038/ng.3493
PMID: 26808112
 Degree: -

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Title: Nature Genetics
  Other : Nature Genet.
Source Genre: Journal
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Publ. Info: New York, NY : Nature America, Inc.
Pages: 10 Seiten Volume / Issue: - Sequence Number: 3493 Start / End Page: - Identifier: ISSN: 1061-4036
CoNE: /journals/resource/954925598609