%0 Journal Article %J Nature %D 2007 %T Genome-wide detection and characterization of positive selection in human populations. %A Sabeti, Pardis C %A Varilly, Patrick %A Fry, Ben %A Lohmueller, Jason %A Hostetter, Elizabeth %A Cotsapas, Chris %A Xie, Xiaohui %A Byrne, Elizabeth H %A McCarroll, Steven A %A Gaudet, Rachelle %A Schaffner, Stephen F %A Lander, Eric S %A Frazer, Kelly A %A Ballinger, Dennis G %A Cox, David R %A Hinds, David A %A Stuve, Laura L %A Richard A Gibbs %A Belmont, John W %A Boudreau, Andrew %A Hardenbol, Paul %A Leal, Suzanne M %A Pasternak, Shiran %A David A Wheeler %A Willis, Thomas D %A Fuli Yu %A Yang, Huanming %A Zeng, Changqing %A Gao, Yang %A Hu, Haoran %A Hu, Weitao %A Li, Chaohua %A Lin, Wei %A Liu, Siqi %A Pan, Hao %A Tang, Xiaoli %A Wang, Jian %A Wang, Wei %A Yu, Jun %A Zhang, Bo %A Zhang, Qingrun %A Zhao, Hongbin %A Zhao, Hui %A Zhou, Jun %A Gabriel, Stacey B %A Barry, Rachel %A Blumenstiel, Brendan %A Camargo, Amy %A Defelice, Matthew %A Faggart, Maura %A Goyette, Mary %A Gupta, Supriya %A Moore, Jamie %A Nguyen, Huy %A Onofrio, Robert C %A Parkin, Melissa %A Roy, Jessica %A Stahl, Erich %A Winchester, Ellen %A Ziaugra, Liuda %A Altshuler, David %A Shen, Yan %A Yao, Zhijian %A Huang, Wei %A Chu, Xun %A He, Yungang %A Jin, Li %A Liu, Yangfan %A Shen, Yayun %A Sun, Weiwei %A Wang, Haifeng %A Wang, Yi %A Wang, Ying %A Xiong, Xiaoyan %A Xu, Liang %A Waye, Mary M Y %A Tsui, Stephen K W %A Xue, Hong %A Wong, J Tze-Fei %A Galver, Luana M %A Fan, Jian-Bing %A Gunderson, Kevin %A Murray, Sarah S %A Oliphant, Arnold R %A Chee, Mark S %A Montpetit, Alexandre %A Chagnon, Fanny %A Ferretti, Vincent %A Leboeuf, Martin %A Olivier, Jean-François %A Phillips, Michael S %A Roumy, Stéphanie %A Sallée, Clémentine %A Verner, Andrei %A Hudson, Thomas J %A Kwok, Pui-Yan %A Cai, Dongmei %A Koboldt, Daniel C %A Miller, Raymond D %A Pawlikowska, Ludmila %A Taillon-Miller, Patricia %A Xiao, Ming %A Tsui, Lap-Chee %A Mak, William %A Song, You Qiang %A Tam, Paul K H %A Nakamura, Yusuke %A Kawaguchi, Takahisa %A Kitamoto, Takuya %A Morizono, Takashi %A Nagashima, Atsushi %A Ohnishi, Yozo %A Sekine, Akihiro %A Tanaka, Toshihiro %A Tsunoda, Tatsuhiko %A Deloukas, Panos %A Bird, Christine P %A Delgado, Marcos %A Dermitzakis, Emmanouil T %A Gwilliam, Rhian %A Hunt, Sarah %A Morrison, Jonathan %A Powell, Don %A Stranger, Barbara E %A Whittaker, Pamela %A Bentley, David R %A Daly, Mark J %A de Bakker, Paul I W %A Barrett, Jeff %A Chretien, Yves R %A Maller, Julian %A McCarroll, Steve %A Patterson, Nick %A Pe'er, Itsik %A Price, Alkes %A Purcell, Shaun %A Richter, Daniel J %A Sabeti, Pardis %A Saxena, Richa %A Schaffner, Stephen F %A Sham, Pak C %A Varilly, Patrick %A Altshuler, David %A Stein, Lincoln D %A Krishnan, Lalitha %A Smith, Albert Vernon %A Tello-Ruiz, Marcela K %A Thorisson, Gudmundur A %A Chakravarti, Aravinda %A Chen, Peter E %A Cutler, David J %A Kashuk, Carl S %A Lin, Shin %A Abecasis, Gonçalo R %A Guan, Weihua %A Li, Yun %A Munro, Heather M %A Qin, Zhaohui Steve %A Thomas, Daryl J %A McVean, Gilean %A Auton, Adam %A Bottolo, Leonardo %A Cardin, Niall %A Eyheramendy, Susana %A Freeman, Colin %A Marchini, Jonathan %A Myers, Simon %A Spencer, Chris %A Stephens, Matthew %A Donnelly, Peter %A Cardon, Lon R %A Clarke, Geraldine %A Evans, David M %A Morris, Andrew P %A Weir, Bruce S %A Tsunoda, Tatsuhiko %A Johnson, Todd A %A Mullikin, James C %A Sherry, Stephen T %A Feolo, Michael %A Skol, Andrew %A Zhang, Houcan %A Zeng, Changqing %A Zhao, Hui %A Matsuda, Ichiro %A Fukushima, Yoshimitsu %A Macer, Darryl R %A Suda, Eiko %A Rotimi, Charles N %A Adebamowo, Clement A %A Ajayi, Ike %A Aniagwu, Toyin %A Marshall, Patricia A %A Nkwodimmah, Chibuzor %A Royal, Charmaine D M %A Leppert, Mark F %A Dixon, Missy %A Peiffer, Andy %A Qiu, Renzong %A Kent, Alastair %A Kato, Kazuto %A Niikawa, Norio %A Adewole, Isaac F %A Knoppers, Bartha M %A Foster, Morris W %A Clayton, Ellen Wright %A Watkin, Jessica %A Richard A Gibbs %A Belmont, John W %A Donna M Muzny %A Nazareth, Lynne %A Sodergren, Erica %A Weinstock, George M %A David A Wheeler %A Yakub, Imtaz %A Gabriel, Stacey B %A Onofrio, Robert C %A Richter, Daniel J %A Ziaugra, Liuda %A Birren, Bruce W %A Daly, Mark J %A Altshuler, David %A Wilson, Richard K %A Fulton, Lucinda L %A Rogers, Jane %A Burton, John %A Carter, Nigel P %A Clee, Christopher M %A Griffiths, Mark %A Jones, Matthew C %A McLay, Kirsten %A Plumb, Robert W %A Ross, Mark T %A Sims, Sarah K %A Willey, David L %A Chen, Zhu %A Han, Hua %A Kang, Le %A Godbout, Martin %A Wallenburg, John C %A L'Archevêque, Paul %A Bellemare, Guy %A Saeki, Koji %A Wang, Hongguang %A An, Daochang %A Fu, Hongbo %A Li, Qing %A Wang, Zhen %A Wang, Renwu %A Holden, Arthur L %A Brooks, Lisa D %A McEwen, Jean E %A Guyer, Mark S %A Wang, Vivian Ota %A Peterson, Jane L %A Shi, Michael %A Spiegel, Jack %A Sung, Lawrence M %A Zacharia, Lynn F %A Collins, Francis S %A Kennedy, Karen %A Jamieson, Ruth %A Stewart, John %K Antiporters %K Edar Receptor %K Gene Frequency %K Genetics, Population %K Genome, Human %K Geography %K Haplotypes %K Humans %K Models, Molecular %K Polymorphism, Single Nucleotide %K Protein Structure, Tertiary %K Selection, Genetic %X

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.

%B Nature %V 449 %P 913-8 %8 2007 Oct 18 %G eng %N 7164 %1 https://www.ncbi.nlm.nih.gov/pubmed/17943131?dopt=Abstract %R 10.1038/nature06250