Genome-wide detection and characterization of positive selection in human populations

Pardis C. Sabeti, Patrick Varilly, Ben Fry, Jason Lohmueller, Elizabeth Hostetter, Chris Cotsapas, Xiaohui Xie, Elizabeth H. Byrne, Steven A. McCarroll, Rachelle Gaudet, Stephen F. Schaffner and Eric S. Lander
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Pardis C. Sabeti: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Patrick Varilly: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Ben Fry: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Jason Lohmueller: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Elizabeth Hostetter: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Chris Cotsapas: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Xiaohui Xie: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Elizabeth H. Byrne: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Steven A. McCarroll: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Rachelle Gaudet: Harvard University, Cambridge, Massachusetts 02138, USA
Stephen F. Schaffner: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Eric S. Lander: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA

Nature, 2007, vol. 449, issue 7164, 913-918

Abstract: HapMap2 raises the bar The International HapMap Consortium has produced a second-generation version of its remarkable haplotype map of the human genome. The Phase II HapMap charts human genetic variation even more extensively than the original, tripling of the number of genetic markers included. The original HapMap was instrumental in making large-scale genome-wide association studies possible. An indication of how this type of work will be extended with 'HapMap2' is presented in this issue: Sabeti et al. build on previous work detecting signs of positive natural selection on human genes. With many more markers now available, they have discovered three examples of apparent population-specific selection based on geographic area — involving gene pairs linked to Lassa virus in West Africa, skin pigmentation in Europe and hair follicle development in Asia — and they speculate on how these may relate to human biology.

Date: 2007
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DOI: 10.1038/nature06250

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