Loci associated with skin pigmentation identified in African populations
| dc.contributor.author | Nyambo, Thomas B. | |
| dc.date.accessioned | 2023-09-27T07:42:03Z | |
| dc.date.available | 2023-09-27T07:42:03Z | |
| dc.date.issued | 2017-07 | |
| dc.description.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 southern 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 UV response genes under selection in Eurasians. | en_US |
| dc.identifier.citation | Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J; NISC Comparative Sequencing Program; Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA. Loci associated with skin pigmentation identified in African populations. Science. 2017 Nov 17;358(6365):eaan8433. doi: 10.1126/science.aan8433. Epub 2017 Oct 12. Erratum in: Science. 2020 Jan 17;367(6475): PMID: 29025994; PMCID: PMC5759959. | en_US |
| dc.identifier.other | doi: 10.1126/science.aan8433. | |
| dc.identifier.uri | http://hdl.handle.net/123456789/1219 | |
| dc.language.iso | en | en_US |
| dc.publisher | Science | en_US |
| dc.subject | Loci | en_US |
| dc.subject | Skin pigmentation | en_US |
| dc.subject | African | en_US |
| dc.title | Loci associated with skin pigmentation identified in African populations | en_US |
| dc.type | Article | en_US |