ArticleScience (New York, N.Y.)2017
Loci associated with skin pigmentation identified in African populations.
Erratum issuedAbstract read
In one paragraph
Article in Science (New York, N.Y.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 167 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
167citing papers in PubMed, 4 pooled it
19.9field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
167 citing papers in PubMed, 4 syntheses or guidelines pooled it, 358 citations in OpenAlex.
- A systematic review of skin ageing genes: gene pleiotropy and genes on the chromosomal band 16q24.3 may drive skin ageing.Scientific reports · 2022Pooled it
- Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes.International journal of obesity (2005) · 2021Pooled it
- Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.BMC genetics · 2019Pooled it
- A Genome-Wide Association Study of Skin and Iris Pigmentation among Individuals of South Asian Ancestry.Genome biology and evolution · 2019Pooled it
- Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype.Current molecular medicine · 2018Trial
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- Recovering the precolonial population structure of Khoe-San descendant populations.Science advances · 2026Article
- Beyond the Classics: The Synergy of AI and Genomics Reveals an Expanded Repertoire of Pigmentation Genes.Journal of experimental zoology. Part B, Molecular and developmental evolution · 2026Review
- Features of Skin of Color.Deutsches Arzteblatt international · 2026Review
- Activation of MyD88/IRAK1 axis and downstream proinflammatory signaling in healthy adult and neonatal African American skin.JID innovations : skin science from molecules to population health · 2026Article
- Principled measures and estimates of trait polygenicity.American journal of human genetics · 2026Article
- Article
- Rapid adaptive increase of amylase gene copy number in Indigenous Andeans.Nature communications · 2026Article
- Improving Melanoma Risk Stratification of Skin Color Type by Polygenic Scores of Skin Color and Melanoma.International journal of dermatology · 2026Article
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment cell & melanoma research · 2026Article
- Analysis of medieval burials from Ibiza reveals genetic and pathogenic diversity during the Islamic period.Nature communications · 2026Article
- Global, regional and national burden of skin and subcutaneous diseases: a systematic analysis of the Global Burden of Disease Study 2021.International health · 2026Article
- Interbreeding between Neanderthals and modern humans was strongly sex biased.Science (New York, N.Y.) · 2026Article
- Developing and Teaching Curriculum to Reduce Genetic Essentialism in University Classrooms.Behavior genetics · 2026Article
- Multi-trait analysis of pigmentation traits in relation to skin and ocular cancers: Relevance for evolutionary medicine.Evolution, medicine, and public health · 2026Article
107 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
48 authors at 15 institutions in 4 countries.
Nicholas G CrawfordDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0003-3250-3414
Derek E KellyDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0003-1555-595X
Matthew E B HansenDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-1183-4137
Marcia H BeltrameDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0003-2102-6667
Shaohua FanDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0003-0610-9106
Shanna L BowmanDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA 19104, USA.ORCID 0000-0001-6944-1945
Ethan JewettDepartment of Electrical Engineering and Computer Sciences, University of California, Berkeley, Berkeley, CA 94704, USA.
Alessia RanciaroDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-3972-9646
Simon ThompsonDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0001-6966-5842
Yancy LoDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0003-2843-4882
Susanne P PfeiferSchool of Life Sciences, Arizona State University, Tempe, AZ 85287, USA.ORCID 0000-0003-1378-2913
Jeffrey D JensenSchool of Life Sciences, Arizona State University, Tempe, AZ 85287, USA.
Michael C CampbellDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0003-0749-3445
William BeggsDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Farhad HormozdiariDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.ORCID 0000-0002-5617-6174
Sununguko Wata MpolokaDepartment of Biological Sciences, University of Botswana, Gaborone, Botswana.ORCID 0000-0003-0147-1819
Gaonyadiwe George MokoneDepartment of Biomedical Sciences, University of Botswana School of Medicine, Gaborone, Botswana.
Thomas NyamboDepartment of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.ORCID 0000-0002-1462-7651
Dawit Wolde MeskelDepartment of Biology, Addis Ababa University, Addis Ababa, Ethiopia.ORCID 0000-0003-2737-8487
Gurja BelayDepartment of Biology, Addis Ababa University, Addis Ababa, Ethiopia.ORCID 0000-0001-7349-9218
Jake HautDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-7146-4297
NISC Comparative Sequencing Program
Harriet RothschildStem 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.ORCID 0000-0001-5311-2872
Leonard ZonStem 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.ORCID 0000-0003-0860-926X
Yi ZhouStem 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.ORCID 0000-0003-0935-1635
Michael A KovacsLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-4298-9609
Mai XuLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Tongwu ZhangLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Kevin BishopTranslational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-2571-4803
Jason SinclairTranslational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-9012-9646
Cecilia RivasGenetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-0175-167X
Eugene ElliotGenetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-3983-083X
Jiyeon ChoiLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-0955-2384
Shengchao A LiDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.
Belynda HicksDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.ORCID 0000-0001-8014-4888
Shawn BurgessTranslational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-1147-0596
Christian AbnetDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.ORCID 0000-0002-3008-7843
Dawn E Watkins-ChowGenetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-4355-0868
Elena OceanaDepartment of Molecular Pharmacology, Physiology and Biotechnology, Brown University, Providence, RI 02912, USA.ORCID 0000-0001-9584-5230
Yun S SongDepartment of Electrical Engineering and Computer Sciences, University of California, Berkeley, Berkeley, CA 94704, USA.ORCID 0000-0002-0734-9868
Eleazar EskinDepartment of Computer Science and Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Kevin M BrownLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-8558-6711
Michael S MarksDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA 19104, USA.ORCID 0000-0001-7435-7262
Stacie K LoftusGenetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
William J PavanGenetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Meredith YeagerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.
Stephen ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.
Sarah A TishkoffDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. tishkoff@pennmedicine.upenn.edu.ORCID 0000-0002-1339-5959
National Institutes of Health · USUniversity of Pennsylvania · USLeidos (United States) · USAddis Ababa University · ETArizona State University · USHoward Hughes Medical Institute · USUniversity of Botswana · BWBroad Institute · USBrown University · USChildren's Hospital of Philadelphia · USDana-Farber Cancer Institute · USHoward University · USMuhimbili University of Health and Allied Sciences · TZUniversity of California, Berkeley · USUniversity of California, Los Angeles · US
Funding
Inter- and Intra-Species Comparative SequencingZIBHG000196 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI THOMAS, JAMES · 2009 to 2025
$177.6MTranslational Research Support CoreP30ES013508 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca A Simmons · 2006 to 2026
$35.3MNHGRI/DIR Embryonic Stem Cell and Transgenic Mouse CoreZICHG200349 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BURGESS, SHAWN M · 2010 to 2025
$23.8MUniversity of Pennsylvania Postdoctoral Opportunities in Research and TeachingK12GM081259 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Janis K. Burkhardt · 2007 to 2026
$20.1MZebrafish targeted mutagenesis and functional genomicsZIAHG000183 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BURGESS, SHAWN M · 2009 to 2025
$16.7MFunction genomic analysis of neural crest developmentZIAHG000136 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PAVAN, WILLIAM J · 2009 to 2023
$13.6MHearing regeneration in zebrafishZIAHG200386 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BURGESS, SHAWN M · 2012 to 2025
$12.5MNHGRI/DIR Zebrafish CoreZICHG200351 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI SOOD, RAMAN · 2015 to 2025
$12.1MA Community Zebrafish Resource for Modeling GWAS BiologyR24OD017870 · OD · BRIGHAM AND WOMEN'S HOSPITAL · PI GOESSLING, WOLFRAM, MACRAE, CALUM A. · 2014 to 2021
$6.3MTranslational Research Training Program in Environmental Health SciencesT32ES019851 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI Kara A Bernstein, Trevor M Penning · 2012 to 2026
$6.0MProject-002U54DK110805 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI ORKIN, STUART H, ZON, LEONARD IRA · 2016 to 2020
$5.9MMelanosome BiogenesisR01AR048155 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI MARKS, MICHAEL S · 2002 to 2017
$4.2MCCR NIH HHS HHSN261200800001CNCI NIH HHS HHSN261200800001ENIAMS NIH HHS R01 AR048155NIAMS NIH HHS R01 AR066318NIDDK NIH HHS R01 DK104339NIDDK NIH HHS U54 DK110805NIEHS NIH HHS P30 ES013508NIEHS NIH HHS T32 ES019851NIGMS NIH HHS K12 GM081259NIGMS NIH HHS R01 GM094402NIGMS NIH HHS R01 GM113657NIH HHS R24 OD017870
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
Indexed as
Evolution, MolecularGene FlowGenetic LociAfrica, EasternAnimalsAntiportersBlack PeopleDNA-Binding ProteinsEthnicityGenome, HumanGenome-Wide Association StudyHumansMelaninsMelanocytesMembrane ProteinsMiceAntiportersDDB1 protein, humanDNA-Binding ProteinseumelaninMelaninsMembrane ProteinsMFSD12 protein, humanSLC24A5 protein, humanTMEM138 protein, human
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.