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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; 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.
Afiliação
  • Crawford NG; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Kelly DE; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Hansen MEB; Genomics and Computational Biology Graduate Program, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Beltrame MH; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Fan S; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Bowman SL; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Jewett E; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA 19104, USA.
  • Ranciaro A; Department of Pathology and Laboratory Medicine and Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Thompson S; Department of Electrical Engineering and Computer Sciences, University of California, Berkeley, Berkeley, CA 94704, USA.
  • Lo Y; Department of Statistics, University of California, Berkeley, Berkeley, CA 94704, USA.
  • Pfeifer SP; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Jensen JD; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Campbell MC; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Beggs W; School of Life Sciences, Arizona State University, Tempe, AZ 85287, USA.
  • Hormozdiari F; School of Life Sciences, Arizona State University, Tempe, AZ 85287, USA.
  • Mpoloka SW; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Mokone GG; Department of Biology, Howard University, Washington, DC 20059, USA.
  • Nyambo T; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Meskel DW; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
  • Belay G; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA.
  • Haut J; Department of Biological Sciences, University of Botswana, Gaborone, Botswana.
  • Rothschild H; Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
  • Zon L; Department of Biology, Addis Ababa University, Addis Ababa, Ethiopia.
  • Zhou Y; Department of Biology, Addis Ababa University, Addis Ababa, Ethiopia.
  • Kovacs MA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Zhang T; Stem Cell Program, Division of Hematology and Oncology, Pediatric Hematology Program, Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA.
  • Bishop K; Stem Cell Program, Division of Hematology and Oncology, Pediatric Hematology Program, Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA.
  • Sinclair J; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA.
  • Rivas C; Stem Cell Program, Division of Hematology and Oncology, Pediatric Hematology Program, Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA.
  • Elliot E; Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA.
  • Choi J; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Li SA; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Hicks B; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Burgess S; Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Abnet C; Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Watkins-Chow DE; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Oceana E; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Song YS; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Eskin E; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.
  • Brown KM; Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc., Frederick, MD 21701, USA.
  • Marks MS; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.
  • Loftus SK; Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc., Frederick, MD 21701, USA.
  • Pavan WJ; Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Yeager M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.
  • Chanock S; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Tishkoff SA; Department of Molecular Pharmacology, Physiology and Biotechnology, Brown University, Providence, RI 02912, USA.
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.
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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
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

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