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Loci associated with skin pigmentation identified in African populations
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
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Both light and dark pigmentation alleles evolved prior to the emergence of modern humans.
“They show that both light and dark pigmentation alleles evolved prior to the emergence of modern humans”
From The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion (2023) · cites this paper as Crawford et al., 2017
Crawford and colleagues identified pigmentation critical gene variants that repair DNA damage and underpin melanocyte biology (DDB1/TMEM138).
“This is supported by Crawford and colleagues (2017) who examined ethnically diverse African genomes, identifying pigmentation critical gene variants that repair DNA damage and underpin melanocyte biology (DDB1/TMEM138).”
From The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion (2023) · cites this paper as Crawford et al., 2017
Dark pigmentation in Africans is identical (by descent) in both South Asian and Australo-Melanesian populations.
“and that dark pigmentation in Africans is identical (by descent) in both South Asian and Australo‐Melanesian populations (Crawford et al., 2017).”
From The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion (2023) · cites this paper as Crawford et al., 2017
Loci relevant to European pigmentation variation may be neither relevant to, nor as numerous as in populations outside of Europe.
“Indeed, loci relevant to European pigmentation variation may be neither relevant to, nor as numerous as in populations outside of Europe (Crawford et al., 2017; Martin et al., 2017; Norton, 2020; Quillen et al., 2018).”
From The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion (2023) · cites this paper as Crawford et al., 2017
Early work led to a bias in favor of genetic research on European/European derived populations, and this hid the true global complexity in genetic architecture that underscores skin color.
“Unfortunately, early work has led to a bias in favor of genetic research on European/European derived populations, and this hid the true global complexity in genetic architecture that underscores skin color.”
From The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion (2023) · cites this paper as Crawford et al., 2017
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Metadata
- Authors
- Crawford, N. G., Kelly, D. E., Hansen, M. E. B., Beltrame, M. H., Fan, S., Bowman, S. L., Jewett, E., Ranciaro, A., Thompson, S., Lo, Y., Pfeifer, S. P., Jensen, J. D., Campbell, M. C., Beggs, W., Hormozdiari, F., Mpoloka, S. W., Mokone, G. G., Nyambo, T., Meskel, D. W., Belay, G., Haut, J., Program, N. C. S., Rothschild, H., Zon, L., Zhou, Y., Kovacs, M. A., Xu, M., Zhang, T., Bishop, K., Sinclair, J., Rivas, C., Elliot, E., Choi, J., Li, S. A., Hicks, B., Burgess, S., Abnet, C., Watkins-Chow, D. E., Oceana, E., Song, Y. S., Eskin, E., Brown, K. M., Marks, M. S., Loftus, S. K., Pavan, W. J., Yeager, M., Chanock, S., & Tishkoff, S. A.
- Affiliations
- Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
- Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia Research Institute, Philadelphia, PA 19104, USA.
- Department of Electrical Engineering and Computer Sciences, University of California, Berkeley, Berkeley, CA 94704, USA.
- School of Life Sciences, Arizona State University, Tempe, AZ 85287, USA.
- Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
- Department of Biological Sciences, University of Botswana, Gaborone, Botswana.
- Department of Biomedical Sciences, University of Botswana School of Medicine, Gaborone, Botswana.
- Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
- Department of Biology, Addis Ababa University, Addis Ababa, Ethiopia.
- 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.
- Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
- Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
- Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.
- Department of Molecular Pharmacology, Physiology and Biotechnology, Brown University, Providence, RI 02912, USA.
- Department of Computer Science and Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA.
- ORCID
- Crawford, Nicholas G.
- Kelly, Derek E.
- Hansen, Matthew E. B.
- Beltrame, Marcia H.
- Fan, Shaohua
- Bowman, Shanna L.
- Ranciaro, Alessia
- Thompson, Simon
- Lo, Yancy
- Pfeifer, Susanne P.
- Campbell, Michael C.
- Hormozdiari, Farhad
- Mpoloka, Sununguko Wata
- Nyambo, Thomas
- Meskel, Dawit Wolde
- Belay, Gurja
- Haut, Jake
- Rothschild, Harriet
- Zon, Leonard
- Zhou, Yi
- Kovacs, Michael A.
- Bishop, Kevin
- Sinclair, Jason
- Rivas, Cecilia
- Elliot, Eugene
- Choi, Jiyeon
- Hicks, Belynda
- Burgess, Shawn
- Abnet, Christian
- Watkins-Chow, Dawn E.
- Oceana, Elena
- Song, Yun S.
- Brown, Kevin M.
- Marks, Michael S.
- Tishkoff, Sarah A.
- Venue
- Science
- Published
- 2017-11-17
- Volume
- 358
- Issue
- 6365
- ISSN
- 0036-8075
- 1095-9203
- PMC
- PMC5759959
- Cited by
- 321
- References
- 42
- Language
- en
- Funders
- NIH Office of the Director (1R01DK104339-01, 1R01GM113657-01, R01 AR048155, R01 AR066318, 5R24OD017870-04, 1U54DK110805-01, K12 GM081259)
- National Cancer Institute (HHSN261200800001E)
- National Institute of Environmental Health Sciences (T32-ES019851)
- Center of Excellence in Environmental Toxicology (P30-ES013508)
- Science Without Borders - CNPq – Brazil
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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