| Literature DB >> 29025994 |
Nicholas G Crawford1, Derek E Kelly1,2, Matthew E B Hansen1, Marcia H Beltrame1, Shaohua Fan1, Shanna L Bowman3,4, Ethan Jewett5,6, Alessia Ranciaro1, Simon Thompson1, Yancy Lo1, Susanne P Pfeifer7, Jeffrey D Jensen7, Michael C Campbell1,8, William Beggs1, Farhad Hormozdiari9,10, Sununguko Wata Mpoloka11, Gaonyadiwe George Mokone12, Thomas Nyambo13, Dawit Wolde Meskel14, Gurja Belay14, Jake Haut1, Harriet Rothschild15, Leonard Zon15,16, Yi Zhou15,17, Michael A Kovacs18, Mai Xu18, Tongwu Zhang18, Kevin Bishop19, Jason Sinclair19, Cecilia Rivas20, Eugene Elliot20, Jiyeon Choi18, Shengchao A Li21,22, Belynda Hicks21,22, Shawn Burgess19, Christian Abnet21, Dawn E Watkins-Chow20, Elena Oceana23, Yun S Song5,6,24,25,26, Eleazar Eskin27, Kevin M Brown18, Michael S Marks3,4, Stacie K Loftus20, William J Pavan20, Meredith Yeager21,22, Stephen Chanock21, Sarah A Tishkoff28,25.
Abstract
Despite the wide range of skin pigmentation in humans, little is known about its genetic basis in global populations. Examining ethnically diverse African genomes, we identify variants in or near SLC24A5, MFSD12, DDB1, TMEM138, OCA2, and HERC2 that are significantly associated with skin pigmentation. Genetic evidence indicates that the light pigmentation variant at SLC24A5 was introduced into East Africa by gene flow from non-Africans. At all other loci, variants associated with dark pigmentation in Africans are identical by descent in South Asian and Australo-Melanesian populations. Functional analyses indicate that MFSD12 encodes a lysosomal protein that affects melanogenesis in zebrafish and mice, and that mutations in melanocyte-specific regulatory regions near DDB1/TMEM138 correlate with expression of ultraviolet response genes under selection in Eurasians.Entities:
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Year: 2017 PMID： 29025994 PMCID： PMC5759959 DOI： 10.1126/science.aan8433
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728