Loci associated with skin pigmentation identified in African populations.
Science
; 358(6365)2017 11 17.
Article
em En
| MEDLINE
| ID: mdl-29025994
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pigmentação da Pele
/
Evolução Molecular
/
População Negra
/
Fluxo Gênico
/
Loci Gênicos
/
Melaninas
Tipo de estudo:
Risk_factors_studies
Limite:
Animals
/
Humans
País/Região como assunto:
Africa
Idioma:
En
Revista:
Science
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Estados Unidos