Signals of recent positive selection in a worldwide sample of human populations.
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.
Pickrell
Joseph K
JK
Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA. pickrell@uchicago.edu
Coop
Graham
G
Novembre
John
J
Kudaravalli
Sridhar
S
Li
Jun Z
JZ
Absher
Devin
D
Srinivasan
Balaji S
BS
Barsh
Gregory S
GS
Myers
Richard M
RM
Feldman
Marcus W
MW
Pritchard
Jonathan K
JK
D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D066246:ErbB Receptors / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005828:Genetics, Population; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D020880:Neuregulins / Q000235:genetics; D010641:Phenotype; D066247:Receptor, ErbB-4; D012641:Selection, Genetic
D020880:Neuregulins; C587689:ERBB4 protein, human; D066246:ErbB Receptors; D066247:Receptor, ErbB-4