Loci associated with skin pigmentation identified in African populations.
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| 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 , , , , , and that are significantly associated with skin pigmentation. Genetic evidence indicates that the light pigmentation variant at 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 encodes a lysosomal protein that affects melanogenesis in zebrafish and mice, and that mutations in melanocyte-specific regulatory regions near correlate with expression of ultraviolet response genes under selection in Eurasians. |
| Year of Publication | 2017
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| Journal | Science
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| Volume | 358
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| Issue | 6365
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| Date Published | 2017 11 17
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| ISSN | 1095-9203
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| DOI | 10.1126/science.aan8433
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| PubMed ID | 29025994
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| PubMed Central ID | PMC5759959
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| Grant list | P30 ES013508 / ES / NIEHS NIH HHS / United States
R01 AR048155 / AR / NIAMS NIH HHS / United States
T32 ES019851 / ES / NIEHS NIH HHS / United States
K12 GM081259 / GM / NIGMS NIH HHS / United States
R01 GM113657 / GM / NIGMS NIH HHS / United States
R01 GM094402 / GM / NIGMS NIH HHS / United States
R24 OD017870 / OD / NIH HHS / United States
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