Loci associated with skin pigmentation identified in African populations

NISC Comparative Sequencing Program

Research output: Contribution to journalArticlepeer-review

218 Scopus citations

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 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.

Original languageEnglish (US)
Article numbereaan8433
JournalScience
Volume358
Issue number6365
DOIs
StatePublished - Nov 17 2017

ASJC Scopus subject areas

  • General

Fingerprint

Dive into the research topics of 'Loci associated with skin pigmentation identified in African populations'. Together they form a unique fingerprint.

Cite this