Signals of Recent Positive Selection in a Worldwide Sample of Human Populations

Overview

Journal Genome Res

Specialty Genetics

Date 2009 Mar 25

PMID 19307593

Citations 426

Authors

Joseph K Pickrell

Graham Coop

John Novembre

Sridhar Kudaravalli

Jun Z Li

Devin Absher

Balaji S Srinivasan

Gregory S Barsh

Richard M Myers

Marcus W Feldman

Jonathan K Pritchard

Affiliations

Soon will be listed here.

Abstract

Genome-wide scans for recent positive selection in humans have yielded insight into the mechanisms underlying the extensive phenotypic diversity in our species, but have focused on a limited number of populations. Here, we present an analysis of recent selection in a global sample of 53 populations, using genotype data from the Human Genome Diversity-CEPH Panel. We refine the geographic distributions of known selective sweeps, and find extensive overlap between these distributions for populations in the same continental region but limited overlap between populations outside these groupings. We present several examples of previously unrecognized candidate targets of selection, including signals at a number of genes in the NRG-ERBB4 developmental pathway in non-African populations. Analysis of recently identified genes involved in complex diseases suggests that there has been selection on loci involved in susceptibility to type II diabetes. Finally, we search for local adaptation between geographically close populations, and highlight several examples.

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