Loci associated with skin pigmentation identified in African populations
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Date
2017-07
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Science
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 southern 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 UV response genes under
selection in Eurasians.
Description
Keywords
Loci, Skin pigmentation, African
Citation
Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J; NISC Comparative Sequencing Program; Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA. Loci associated with skin pigmentation identified in African populations. Science. 2017 Nov 17;358(6365):eaan8433. doi: 10.1126/science.aan8433. Epub 2017 Oct 12. Erratum in: Science. 2020 Jan 17;367(6475): PMID: 29025994; PMCID: PMC5759959.