TY - JOUR
T1 - Loci associated with skin pigmentation identified in African populations
AU - NISC Comparative Sequencing Program
AU - Crawford, Nicholas G.
AU - Kelly, Derek E.
AU - Hansen, Matthew E.B.
AU - Beltrame, Marcia H.
AU - Fan, Shaohua
AU - Bowman, Shanna L.
AU - Jewett, Ethan
AU - Ranciaro, Alessia
AU - Thompson, Simon
AU - Lo, Yancy
AU - Pfeifer, Susanne
AU - Jensen, Jeffrey
AU - Campbell, Michael C.
AU - Beggs, William
AU - Hormozdiari, Farhad
AU - Mpoloka, Sununguko Wata
AU - Mokone, Gaonyadiwe George
AU - Nyambo, Thomas
AU - Meskel, Dawit Wolde
AU - Belay, Gurja
AU - Haut, Jake
AU - Rothschild, Harriet
AU - Zon, Leonard
AU - Zhou, Yi
AU - Kovacs, Michael A.
AU - Xu, Mai
AU - Zhang, Tongwu
AU - Bishop, Kevin
AU - Sinclair, Jason
AU - Rivas, Cecilia
AU - Elliot, Eugene
AU - Choi, Jiyeon
AU - Li, Shengchao A.
AU - Hicks, Belynda
AU - Burgess, Shawn
AU - Abnet, Christian
AU - Watkins-Chow, Dawn E.
AU - Oceana, Elena
AU - Song, Yun S.
AU - Eskin, Eleazar
AU - Brown, Kevin M.
AU - Marks, Michael S.
AU - Loftus, Stacie K.
AU - Pavan, William J.
AU - Yeager, Meredith
AU - Chanock, Stephen
AU - Tishkoff, Sarah A.
N1 - Publisher Copyright:
© 2017, American Association for the Advancement of Science. All rights reserved.
PY - 2017/11/17
Y1 - 2017/11/17
N2 - 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.
AB - 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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U2 - 10.1126/science.aan8433
DO - 10.1126/science.aan8433
M3 - Article
C2 - 29025994
AN - SCOPUS:85031791606
SN - 0036-8075
VL - 358
JO - Science
JF - Science
IS - 6365
M1 - eaan8433
ER -