Loci associated with skin pigmentation identified in African populations

Author:

Crawford Nicholas G.1ORCID,Kelly Derek E.12ORCID,Hansen Matthew E. B.1ORCID,Beltrame Marcia H.1ORCID,Fan Shaohua1ORCID,Bowman Shanna L.34ORCID,Jewett Ethan56,Ranciaro Alessia1ORCID,Thompson Simon1ORCID,Lo Yancy1ORCID,Pfeifer Susanne P.7ORCID,Jensen Jeffrey D.7,Campbell Michael C.18ORCID,Beggs William1,Hormozdiari Farhad910ORCID,Mpoloka Sununguko Wata11ORCID,Mokone Gaonyadiwe George12,Nyambo Thomas13ORCID,Meskel Dawit Wolde14ORCID,Belay Gurja14ORCID,Haut Jake1ORCID,Rothschild Harriet15ORCID,Zon Leonard1516ORCID,Zhou Yi1517ORCID,Kovacs Michael A.18ORCID,Xu Mai18,Zhang Tongwu18,Bishop Kevin19ORCID,Sinclair Jason19ORCID,Rivas Cecilia20ORCID,Elliot Eugene20ORCID,Choi Jiyeon18ORCID,Li Shengchao A.2122,Hicks Belynda2122ORCID,Burgess Shawn19ORCID,Abnet Christian21ORCID,Watkins-Chow Dawn E.20ORCID,Oceana Elena23ORCID,Song Yun S.56242526ORCID,Eskin Eleazar27,Brown Kevin M.18ORCID,Marks Michael S.34ORCID,Loftus Stacie K.20,Pavan William J.20,Yeager Meredith2122,Chanock Stephen21,Tishkoff Sarah A.125ORCID,

Affiliation:

1. Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

2. Genomics and Computational Biology Graduate Program, University of Pennsylvania, Philadelphia, PA 19104, USA.

3. Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia Research Institute, Philadelphia, PA 19104, USA.

4. Department of Pathology and Laboratory Medicine and Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

5. Department of Electrical Engineering and Computer Sciences, University of California, Berkeley, Berkeley, CA 94704, USA.

6. Department of Statistics, University of California, Berkeley, Berkeley, CA 94704, USA.

7. School of Life Sciences, Arizona State University, Tempe, AZ 85287, USA.

8. Department of Biology, Howard University, Washington, DC 20059, USA.

9. Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.

10. Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA.

11. Department of Biological Sciences, University of Botswana, Gaborone, Botswana.

12. Department of Biomedical Sciences, University of Botswana School of Medicine, Gaborone, Botswana.

13. Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.

14. Department of Biology, Addis Ababa University, Addis Ababa, Ethiopia.

15. 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.

16. Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA.

17. Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA.

18. Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

19. Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

20. Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

21. Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.

22. Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc., Frederick, MD 21701, USA.

23. Department of Molecular Pharmacology, Physiology and Biotechnology, Brown University, Providence, RI 02912, USA.

24. Chan Zuckerberg Biohub, San Francisco, CA 94158, USA.

25. Department of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA 19104, USA.

26. Department of Mathematics, University of Pennsylvania, Philadelphia, PA 19104, USA.

27. Department of Computer Science and Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA.

Abstract

African genomics and skin color Skin color varies among human populations and is thought to be under selection, with light skin maximizing vitamin D production at higher latitudes and dark skin providing UV protection in equatorial zones. To identify the genes that give rise to the palette of human skin tones, Crawford et al. applied genome-wide analyses across diverse African populations (see the Perspective by Tang and Barsh). Genetic variants were identified with likely function in skin phenotypes. Comparison to model organisms verified a conserved function of MFSD12 in pigmentation. A global genetic panel was used to trace how alleles associated with skin color likely moved across the globe as humans migrated, both within and out of Africa. Science , this issue p. eaan8433 ; see also p. 867

Funder

NIH Office of the Director

National Cancer Institute

National Institute of Environmental Health Sciences

Center of Excellence in Environmental Toxicology

Science Without Borders - CNPq – Brazil

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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