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Publication : Loci associated with skin pigmentation identified in African populations.

First Author  Crawford NG Year  2017
Journal  Science PubMed ID  29025994
Mgi Jnum  J:243759 Mgi Id  MGI:5912387
Doi  10.1126/science.aan8433 Citation  Crawford NG, et al. (2017) Loci associated with skin pigmentation identified in African populations. Science 358(6365)
abstractText  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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