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Multiple Instances of Ancient Balancing Selection Shared Between Humans and Chim

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Title:
Multiple Instances of Ancient Balancing Selection Shared Between Humans and Chimpanzees
Authors:
Leffler, Ellen M.; 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
Affiliation:
AA(Department of Human Genetics, 920 E 58th Street, University of Chicago, Chicago, IL 60637, USA), AB(Committee on Genetics, Genomics and Systems Biology, University of Chicago, Chicago, IL 60637, USA), AC(Department of Statistics, 1 South Parks Road, University of Oxford, Oxford OX1 3TG, UK), AD(Department of Human Genetics, 920 E 58th Street, University of Chicago, Chicago, IL 60637, USA.; Howard Hughes Medical Institute, University of Chicago, Chicago, IL 60637, USA), AE(Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK), AF(Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK), AG(Department of Statistics, 1 South Parks Road, University of Oxford, Oxford OX1 3TG, UK.; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK), AH(Department of Comparative Genetics and Refinement, Biomedical Primate Research Centre, Lange Kleiweg 139 2288 GJ, Rijswijk, Netherlands), AI(Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA), AJ(Department of Ecology and Evolution, 1101 E. 57th Street, Chicago, IL 60637, USA.; Department of Ecology, Evolution and Behavior, Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem 91904, Israel), AK(Department of Statistics, 1 South Parks Road, University of Oxford, Oxford OX1 3TG, UK.; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK), AL(Department of Statistics, 1 South Parks Road, University of Oxford, Oxford OX1 3TG, UK.; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK), AM()
Publication:
Science, Volume 339, Issue 6127, pp. 1578-1582 (2013). (Sci Homepage)
Publication Date:
03/2013
Category:
EVOLUTION Genetics, Anthropology, Cell-Biology
Origin:
SCIENCE
Abstract Copyright:
(c) 2013: Science
DOI:
10.1126/science.1234070
Bibliographic Code:
2013Sci...339.1578L

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.
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