Open AccessLoci associated with skin pigmentation identified in African populations
Author(s) -
Nicholas G. Crawford,
Derek E. Kelly,
Matthew E.B. Hansen,
Márcia Holsbach Beltrame,
Shaohua Fan,
Shanna L. Bowman,
Ethan M. Jewett,
Alessia Ranciaro,
Simon R. Thompson,
Yancy Lo,
Susanne P. Pfeifer,
Jeffrey D. Jensen,
Michael C. Campbell,
William Beggs,
Farhad Hormozdiari,
Sununguko Wata Mpoloka,
Gaonyadiwe George Mokone,
Thomas Nyambo,
Dawit Wolde Meskel,
Gurja Belay,
Jake Haut,
Harriet Rothschild,
Leonard I. Zon,
Yi Zhou,
Michael A. Kovacs,
Mai Xu,
Tongwu Zhang,
Kevin Bishop,
Jason Sinclair,
Cecilia Rivas,
Eugene Elliot,
Jiyeon Choi,
Shengchao A. Li,
Belynda Hicks,
Shawn M. Burgess,
Christian C. Abnet,
Dawn E. WatkinsChow,
Elena Oceana,
Yun S. Song,
Eleazar Eskin,
Kevin M. Brown,
Michael S. Marks,
Stacie K. Loftus,
William J. Pavan,
Meredith Yeager,
Stephen Chanock,
Sarah A. Tishkoff
Publication year - 2017
Publication title -
science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 12.556
H-Index - 1186
eISSN - 1095-9203
pISSN - 0036-8075
DOI - 10.1126/science.aan8433
Subject(s) - skin color , human skin , biology , evolutionary biology , genetics , dark skin , allele , palette (painting) , adaptation (eye) , gene , neuroscience , operating system , artificial intelligence , computer science
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.
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