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DOI 10.1126/science.aan8433

Медицинская библиотека · Science (New York, N.Y.) · 2017

Loci associated with skin pigmentation identified in African populations.

Crawford Nicholas G, Kelly Derek E, Hansen Matthew E B, Beltrame Marcia H, Fan Shaohua, Bowman Shanna L, Jewett Ethan, Ranciaro Alessia, Thompson Simon, Lo Yancy, Pfeifer Susanne P, Jensen Jeffrey D, Campbell Michael C, Beggs William, Hormozdiari Farhad, Mpoloka Sununguko Wata, Mokone Gaonyadiwe George, Nyambo Thomas, Meskel Dawit Wolde, Belay Gurja, Haut Jake, NISC Comparative Sequencing Program, Rothschild Harriet, Zon Leonard, Zhou Yi, Kovacs Michael A, Xu Mai, Zhang Tongwu, Bishop Kevin, Sinclair Jason, Rivas Cecilia, Elliot Eugene, Choi Jiyeon, Li Shengchao A, Hicks Belynda, Burgess Shawn, Abnet Christian, Watkins-Chow Dawn E, Oceana Elena, Song Yun S, Eskin Eleazar, Brown Kevin M, Marks Michael S, Loftus Stacie K, Pavan William J, Yeager Meredith, Chanock Stephen, Tishkoff Sarah A

СтатьяПоддержка NIH: внешняя программаResearch Support, N.I.H., IntramuralПоддержка исследования: вне правительства СШАПоддержка правительства СШАПеревод в очереди

Аннотация

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.

Для цитирования: Crawford Nicholas G, Kelly Derek E, Hansen Matthew E B, Beltrame Marcia H, Fan Shaohua, Bowman Shanna L, Jewett Ethan, Ranciaro Alessia, Thompson Simon, Lo Yancy, Pfeifer Susanne P, Jensen Jeffrey D, Campbell Michael C, Beggs William, Hormozdiari Farhad, Mpoloka Sununguko Wata, Mokone Gaonyadiwe George, Nyambo Thomas, Meskel Dawit Wolde, Belay Gurja, Haut Jake, NISC Comparative Sequencing Program, Rothschild Harriet, Zon Leonard, Zhou Yi, Kovacs Michael A, Xu Mai, Zhang Tongwu, Bishop Kevin, Sinclair Jason, Rivas Cecilia, Elliot Eugene, Choi Jiyeon, Li Shengchao A, Hicks Belynda, Burgess Shawn, Abnet Christian, Watkins-Chow Dawn E, Oceana Elena, Song Yun S, Eskin Eleazar, Brown Kevin M, Marks Michael S, Loftus Stacie K, Pavan William J, Yeager Meredith, Chanock Stephen, Tishkoff Sarah A. Loci associated with skin pigmentation identified in African populations.. Science (New York, N.Y.). 2017. DOI: 10.1126/science.aan8433.

Предметные рубрики MeSH

Africa, EasternAnimalsAntiportersBlack PeopleDNA-Binding ProteinsEthnicityEvolution, MolecularGene FlowGenetic LociGenome, HumanGenome-Wide Association StudyHumansMelaninsMelanocytesMembrane ProteinsMicePolymorphism, Single NucleotideRadiation ExposureSkin PigmentationSuppression, GeneticUltraviolet Rays
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