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

Sabeti P.C., Varilly P., Fry B., Lohmueller J., Hostetter E., Cotsapas C., Xie X., Byrne E.H., McCarroll S.A., Gaudet R., Schaffner S.F., Lander E.S., Frazer K.A., Ballinger D.G., Cox D.R., Hinds D.A., Stuve L.L., Gibbs R.A., Belmont J.W., Boudreau A., Hardenbol P., Leal S.M., Pasternak S., Wheeler D.A., Willis T.D., Yu F., Yang H., Zeng C., Gao Y., Hu H., Hu W., Li C., Lin W., Liu S., Pan H., Tang X., Wang J., Wang W., Yu J., Zhang B., Zhang Q., Zhao H., Zhao H., Zhou J., Gabriel S.B., Barry R., Blumenstiel B., Camargo A., Defelice M., Faggart M., Goyette M., Gupta S., Moore J., Nguyen H., Onofrio R.C., Parkin M., Roy J., Stahl E., Winchester E., Ziaugra L., Altshuler D., Shen Y., Yao Z., Huang W., Chu X., He Y., Jin L., Liu Y., Shen Y., Sun W., Wang H., Wang Y., Wang Y., Xiong X., Xu L., Waye M.M.Y., Tsui S.K.W., Xue H., Wong J.T.-F., Galver L.M., Fan J.-B., Gunderson K., Murray S.S., Oliphant A.R., Chee M.S., Montpetit A., Chagnon F., Ferretti V., Leboeuf M., Olivier J.-F., Phillips M.S., Roumy S., Sallee C., Verner A., Hudson T.J., Kwok P.-Y., Cai D., Koboldt D.C., Miller R.D., Pawlikowska L., Taillon-Miller P., Xiao M., Tsui L.-C., Mak W., You Q.S., Tam P.K.H., Nakamura Y., Kawaguchi T., Kitamoto T., Morizono T., Nagashima A., Ohnishi Y., Sekine A., Tanaka T., Tsunoda T., Deloukas P., Bird C.P., Delgado M., Dermitzakis E.T., Gwilliam R., Hunt S., Morrison J., Powell D., Stranger B.E., Whittaker P., Bentley D.R., Daly M.J., De Bakker P.I.W., Barrett J., Chretien Y.R., Maller J., McCarroll S., Patterson N., Pe'Er I., Price A., Purcell S., Richter D.J., Saxena R., Sham P.C., Stein L.D., Krishnan L., Smith A.V., Tello-Ruiz M.K., Thorisson G.A., Chakravarti A., Chen P.E., Cutler D.J., Kashuk C.S., Lin S., Abecasis G.R., Guan W., Li Y., Munro H.M., Qin Z.S., Thomas D.J., McVean G., Auton A., Bottolo L., Cardin N., Eyheramendy S., Freeman C., Marchini J., Myers S., Spencer C., Stephens M., Donnelly P., Cardon L.R., Clarke G., Evans D.M., Morris A.P., Weir B.S., Johnson T.A., Mullikin J.C., Sherry S.T., Feolo M., Skol A., Zhang H., Matsuda I., Fukushima Y., MacEr D.R., Suda E., Rotimi C.N., Adebamowo C.A., Ajayi I., Aniagwu T., Marshall P.A., Nkwodimmah C., Royal C.D.M., Leppert M.F., Dixon M., Peiffer A., Qiu R., Kent A., Kato K., Niikawa N., Adewole I.F., Knoppers B.M., Foster M.W., Clayton E.W., Watkin J., Muzny D., Nazareth L., Sodergren E., Weinstock G.M., Yakub I., Birren B.W., Wilson R.K., Fulton L.L., Rogers J., Burton J., Carter N.P., Clee C.M., Griffiths M., Jones M.C., McLay K., Plumb R.W., Ross M.T., Sims S.K., Willey D.L., Chen Z., Han H., Kang L., Godbout M., Wallenburg J.C., L'Archeveque P., Bellemare G., Saeki K., Wang H., An D., Fu H., Li Q., Wang Z., Wang R., Holden A.L., Brooks L.D., McEwen J.E., Guyer M.S., Wang V.O., Peterson J.L., Shi M., Spiegel J., Sung L.M., Zacharia L.F., Collins F.S., Kennedy K., Jamieson R. and Stewart J. (2007) Genome-wide detection and characterization of positive selection in human populations. Nature, 449 7164: 913-918. doi:10.1038/nature06250

Author Sabeti P.C.
Varilly P.
Fry B.
Lohmueller J.
Hostetter E.
Cotsapas C.
Xie X.
Byrne E.H.
McCarroll S.A.
Gaudet R.
Schaffner S.F.
Lander E.S.
Frazer K.A.
Ballinger D.G.
Cox D.R.
Hinds D.A.
Stuve L.L.
Gibbs R.A.
Belmont J.W.
Boudreau A.
Hardenbol P.
Leal S.M.
Pasternak S.
Wheeler D.A.
Willis T.D.
Yu F.
Yang H.
Zeng C.
Gao Y.
Hu H.
Hu W.
Li C.
Lin W.
Liu S.
Pan H.
Tang X.
Wang J.
Wang W.
Yu J.
Zhang B.
Zhang Q.
Zhao H.
Zhao H.
Zhou J.
Gabriel S.B.
Barry R.
Blumenstiel B.
Camargo A.
Defelice M.
Faggart M.
Goyette M.
Gupta S.
Moore J.
Nguyen H.
Onofrio R.C.
Parkin M.
Roy J.
Stahl E.
Winchester E.
Ziaugra L.
Altshuler D.
Shen Y.
Yao Z.
Huang W.
Chu X.
He Y.
Jin L.
Liu Y.
Shen Y.
Sun W.
Wang H.
Wang Y.
Wang Y.
Xiong X.
Xu L.
Waye M.M.Y.
Tsui S.K.W.
Xue H.
Wong J.T.-F.
Galver L.M.
Fan J.-B.
Gunderson K.
Murray S.S.
Oliphant A.R.
Chee M.S.
Montpetit A.
Chagnon F.
Ferretti V.
Leboeuf M.
Olivier J.-F.
Phillips M.S.
Roumy S.
Sallee C.
Verner A.
Hudson T.J.
Kwok P.-Y.
Cai D.
Koboldt D.C.
Miller R.D.
Pawlikowska L.
Taillon-Miller P.
Xiao M.
Tsui L.-C.
Mak W.
You Q.S.
Tam P.K.H.
Nakamura Y.
Kawaguchi T.
Kitamoto T.
Morizono T.
Nagashima A.
Ohnishi Y.
Sekine A.
Tanaka T.
Tsunoda T.
Deloukas P.
Bird C.P.
Delgado M.
Dermitzakis E.T.
Gwilliam R.
Hunt S.
Morrison J.
Powell D.
Stranger B.E.
Whittaker P.
Bentley D.R.
Daly M.J.
De Bakker P.I.W.
Barrett J.
Chretien Y.R.
Maller J.
McCarroll S.
Patterson N.
Pe'Er I.
Price A.
Purcell S.
Richter D.J.
Saxena R.
Sham P.C.
Stein L.D.
Krishnan L.
Smith A.V.
Tello-Ruiz M.K.
Thorisson G.A.
Chakravarti A.
Chen P.E.
Cutler D.J.
Kashuk C.S.
Lin S.
Abecasis G.R.
Guan W.
Li Y.
Munro H.M.
Qin Z.S.
Thomas D.J.
McVean G.
Auton A.
Bottolo L.
Cardin N.
Eyheramendy S.
Freeman C.
Marchini J.
Myers S.
Spencer C.
Stephens M.
Donnelly P.
Cardon L.R.
Clarke G.
Evans D.M.
Morris A.P.
Weir B.S.
Johnson T.A.
Mullikin J.C.
Sherry S.T.
Feolo M.
Skol A.
Zhang H.
Matsuda I.
Fukushima Y.
MacEr D.R.
Suda E.
Rotimi C.N.
Adebamowo C.A.
Ajayi I.
Aniagwu T.
Marshall P.A.
Nkwodimmah C.
Royal C.D.M.
Leppert M.F.
Dixon M.
Peiffer A.
Qiu R.
Kent A.
Kato K.
Niikawa N.
Adewole I.F.
Knoppers B.M.
Foster M.W.
Clayton E.W.
Watkin J.
Muzny D.
Nazareth L.
Sodergren E.
Weinstock G.M.
Yakub I.
Birren B.W.
Wilson R.K.
Fulton L.L.
Rogers J.
Burton J.
Carter N.P.
Clee C.M.
Griffiths M.
Jones M.C.
McLay K.
Plumb R.W.
Ross M.T.
Sims S.K.
Willey D.L.
Chen Z.
Han H.
Kang L.
Godbout M.
Wallenburg J.C.
L'Archeveque P.
Bellemare G.
Saeki K.
Wang H.
An D.
Fu H.
Li Q.
Wang Z.
Wang R.
Holden A.L.
Brooks L.D.
McEwen J.E.
Guyer M.S.
Wang V.O.
Peterson J.L.
Shi M.
Spiegel J.
Sung L.M.
Zacharia L.F.
Collins F.S.
Kennedy K.
Jamieson R.
Stewart J.
Title Genome-wide detection and characterization of positive selection in human populations
Journal name Nature   Check publisher's open access policy
ISSN 0028-0836
Publication date 2007-10-18
Year available 2007
Sub-type Article (original research)
DOI 10.1038/nature06250
Open Access Status Not yet assessed
Volume 449
Issue 7164
Start page 913
End page 918
Total pages 6
Place of publication LONDON
Language eng
Subject 1000 General
Abstract With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used 'long-range haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.
Keyword Multidisciplinary Sciences
Science & Technology - Other Topics
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID 077011
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: ResearcherID Downloads - Archived
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