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PMID: 23413192 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Multiple instances of ancient balancing selection shared between humans and chimpanzees.

Science (New York, N.Y.) ·Vol. 339 ·No. 6127 ·2013-03-29 ·Pages 1578-82

Leffler EM, Gao Z, Pfeifer S, Ségurel L, Auton A, Venn O, Bowden R, Bontrop R, Wall JD, Sella G, Donnelly P, McVean G, Przeworski M

Abstract

Instances in which natural selection maintains genetic variation in a population over millions of years are thought to be extremely rare. We conducted a genome-wide scan for long-lived balancing selection by looking for combinations of SNPs shared between humans and chimpanzees. In addition to the major histocompatibility complex, we identified 125 regions in which the same haplotypes are segregating in the two species, all but two of which are noncoding. In six cases, there is evidence for an ancestral polymorphism that persisted to the present in humans and chimpanzees. Regions with shared haplotypes are significantly enriched for membrane glycoproteins, and a similar trend is seen among shared coding polymorphisms. These findings indicate that ancient balancing selection has shaped human variation and point to genes involved in host-pathogen interactions as common targets.

MeSH Terms
Animals Base Sequence Genetic Association Studies Genome, Human/genetics Haplotypes Host-Pathogen Interactions/genetics Humans Molecular Sequence Data Pan troglodytes/genetics Pedigree Polymorphism, Single Nucleotide Selection, Genetic
Authors & Affiliations
13 authors, click to expand affiliations / ORCID
Leffler Ellen M
Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. [email protected]
Gao Ziyue
Pfeifer Susanne
Ségurel Laure
Auton Adam
Venn Oliver
Bowden Rory
Bontrop Ronald
Wall Jeffrey D
Sella Guy
Donnelly Peter
McVean Gilean
Przeworski Molly
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Article Info
Journal
Science (New York, N.Y.)
Abbr.
Science
ISSN
1095-9203
DOI
10.1126/science.1234070
Email
[email protected]
Published
2013-03-29
Epub
2013-00-14
Pages
1578-82
Language
English
Region
United States
NLM ID
0404511
PMCID
PMC3612375
Subset
IM
Grants
NHGRI NIH HHS · HG005226 · United States
Wellcome Trust · 095552/Z/11/Z · United Kingdom
NHGRI NIH HHS · R01 HG005226 · United States
Wellcome Trust · 095552 · United Kingdom
NIGMS NIH HHS · R01 GM072861 · United States
Howard Hughes Medical Institute · United States
Wellcome Trust · 086084/Z/08/Z · United Kingdom
Wellcome Trust · 075491/Z/04/B · United Kingdom
Wellcome Trust · 090532 · United Kingdom
NIGMS NIH HHS · GM72861 · United States
Wellcome Trust · 090532/Z/09/Z · United Kingdom
NIGMS NIH HHS · T32 GM007197 · United States
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PMID: 23438868
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PubMed source DOI: 10.1126/science.1234070 PMC Full Text View journal details
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