A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection

作者: S. R. Grossman , I. Shylakhter , E. K. Karlsson , E. H. Byrne , S. Morales

DOI: 10.1126/SCIENCE.1183863

关键词:

摘要: The human genome contains hundreds of regions whose patterns genetic variation indicate recent positive natural selection, yet for most the underlying gene and advantageous mutation remain unknown. We developed a method, composite multiple signals (CMS), that combines tests selection increases resolution by up to 100-fold. By applying CMS candidate from International Haplotype Map, we localized population-specific selective 55 kilobases (median), identifying known novel causal variants. can not just identify individual loci but implicates precise variants selected evolution.

参考文章(17)
Kyong Soo Park, Hyoung Doo Shin, Byung Lae Park, Hyun Sub Cheong, Young Min Cho, Hong Kyu Lee, Jong-Young Lee, Jong-Keuk Lee, Bermseok Oh, Kuchan Kimm, Polymorphisms in the leptin receptor (LEPR)—putative association with obesity and T2DM Journal of Human Genetics. ,vol. 51, pp. 85- 91 ,(2006) , 10.1007/S10038-005-0327-8
B. S. Weir, C. Clark Cockerham, ESTIMATING F -STATISTICS FOR THE ANALYSIS OF POPULATION STRUCTURE Evolution. ,vol. 38, pp. 1358- 1370 ,(1984) , 10.1111/J.1558-5646.1984.TB05657.X
Scott H Williamson, Melissa J Hubisz, Andrew G Clark, Bret A Payseur, Carlos D Bustamante, Rasmus Nielsen, Localizing Recent Adaptive Evolution in the Human Genome PLOS Genetics. ,vol. 3, ,(2005) , 10.1371/JOURNAL.PGEN.0030090
Benjamin F Voight, Sridhar Kudaravalli, Xiaoquan Wen, Jonathan K Pritchard, A Map of Recent Positive Selection in the Human Genome PLOS Biology. ,vol. 4, pp. 446- 458 ,(2006) , 10.1371/JOURNAL.PBIO.0040072
Piotr Kazmierczak, Hirofumi Sakaguchi, Joshua Tokita, Elizabeth M. Wilson-Kubalek, Ronald A. Milligan, Ulrich Müller, Bechara Kachar, Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature. ,vol. 449, pp. 87- 91 ,(2007) , 10.1038/NATURE06091
Lawrence Shapiro, Allison M. Fannon, Peter D. Kwong, Andrew Thompson, Mogens S. Lehmann, Gerhard Grübel, Jean-François Legrand, Jens Als-Nielsen, David R. Colman, Wayne A. Hendrickson, Structural basis of cell-cell adhesion by cadherins. Nature. ,vol. 374, pp. 327- 337 ,(1995) , 10.1038/374327A0
R. A. Sturm, Molecular genetics of human pigmentation diversity Human Molecular Genetics. ,vol. 18, ,(2009) , 10.1093/HMG/DDP003
Chin-Yo Lin, Vinsensius B Vega, Jane S Thomsen, Tao Zhang, Say Li Kong, Min Xie, Kuo Ping Chiu, Leonard Lipovich, Daniel H Barnett, Fabio Stossi, Ailing Yeo, Joshy George, Vladimir A Kuznetsov, Yew Kok Lee, Tze Howe Charn, Nallasivam Palanisamy, Lance D Miller, Edwin Cheung, Benita S Katzenellenbogen, Yijun Ruan, Guillaume Bourque, Chia-Lin Wei, Edison T Liu, None, Whole-Genome Cartography of Estrogen Receptor α Binding Sites PLOS Genetics. ,vol. 3, pp. 867- 885 ,(2005) , 10.1371/JOURNAL.PGEN.0030087
Jan Reiners, Erwin van Wijk, Tina Märker, Ulrike Zimmermann, Karin Jürgens, Heleen te Brinke, Nora Overlack, Ronald Roepman, Marlies Knipper, Hannie Kremer, Uwe Wolfrum, Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2 Human Molecular Genetics. ,vol. 14, pp. 3933- 3943 ,(2005) , 10.1093/HMG/DDI417