Loci associated with skin pigmentation identified in African populations.

Science
Authors
Keywords
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
Journal
Science
Volume
358
Issue
6365
Date Published
2017 11 17
ISSN
1095-9203
DOI
10.1126/science.aan8433
PubMed ID
29025994
PubMed Central ID
PMC5759959
Links
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