Evidence map›Paper›PMID 29195075›Full record

ArticleCell2017

An Unexpectedly Complex Architecture for Skin Pigmentation in Africans.

Alicia R Martin, Meng Lin, Julie M Granka, Justin W Myrick, Xiaomin Liu, Alexandra Sockell, Elizabeth G Atkinson, Cedric J Werely, Marlo Möller, Manjinder S Sandhu and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
86citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

86 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. 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 · 2026
    Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Review
  9. Polygenic prediction of human complex traits using ancient DNA.Current opinion in genetics & development · 2025
    Review
  10. Article
  11. Review
  12. Article
  13. Review
  14. Review
  15. Article
  16. Review
  17. Article
  18. Article
  19. Review
  20. Article

26 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors.

Alicia R MartinDepartment of Genetics, Stanford University, Stanford, CA 94305, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02141, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02141, USA. Electronic address: armartin@broadinstitute.org.
Meng LinDepartment of Ecology and Evolution, SUNY Stony Brook, NY 11794, USA.
Julie M GrankaDepartment of Biological Sciences, Stanford University, Stanford, CA 94305, USA.
Justin W MyrickDepartment of Ecology and Evolution, SUNY Stony Brook, NY 11794, USA.
Xiaomin LiuBGI-Shenzhen, Shenzhen, Guangdong, China.
Alexandra SockellDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.
Elizabeth G AtkinsonDepartment of Ecology and Evolution, SUNY Stony Brook, NY 11794, USA.
Cedric J WerelySA MRC Centre for Tuberculosis Research, DST/NRF Centre of Excellence for Biomedical Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, Cape Town, South Africa.
Marlo MöllerSA MRC Centre for Tuberculosis Research, DST/NRF Centre of Excellence for Biomedical Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, Cape Town, South Africa.
Manjinder S SandhuWellcome Trust Sanger Institute, Genome Campus, Hinxton, UK.
David M KingsleyDepartment of Developmental Biology, Stanford University, Stanford, CA 94305, USA.
Eileen G HoalSA MRC Centre for Tuberculosis Research, DST/NRF Centre of Excellence for Biomedical Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, Cape Town, South Africa.
Xiao LiuBGI-Shenzhen, Shenzhen, Guangdong, China.
Mark J DalyAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02141, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02141, USA.
Marcus W FeldmanDepartment of Biological Sciences, Stanford University, Stanford, CA 94305, USA.
Christopher R GignouxDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.
Carlos D BustamanteDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.
Brenna M HennDepartment of Ecology and Evolution, SUNY Stony Brook, NY 11794, USA. Electronic address: brenna.henn@stonybrook.edu.

Funding

INSTITUTIONAL TRAINING GRANT IN GENOME SCIENCET32HG000044 · NHGRI · STANFORD UNIVERSITY · PI MICHAEL P. SNYDER · 1995 to 2026
$32.2M
GENETICS TRAINING PROGRAM FOR PHD CANDIDATEST32GM007790 · NIGMS · STANFORD UNIVERSITY · PI BRUNET, ANNE, KINGSLEY, DAVID M · 1985 to 2020
$12.8M
CORE--PROGRAM DEVELOPMENTP30AG017253 · NIA · STANFORD UNIVERSITY · PI BHATTACHARYA, JAY · 1999 to 2019
$5.8M
COMPUTATIONAL METHODS FOR PROTEOMIC ANALYSISK22HG000044 · NHGRI · UNIVERSITY OF UTAH · PI GIDDINGS, MORGAN CORINNE · 2000 to 2005
$1.3M
Medical Research Council MR/K013491/1NHGRI NIH HHS K22 HG000044NHGRI NIH HHS T32 HG000044NIA NIH HHS P30 AG017253NIGMS NIH HHS T32 GM007790
6 · The paper itself

Abstract

Approximately 15 genes have been directly associated with skin pigmentation variation in humans, leading to its characterization as a relatively simple trait. However, by assembling a global survey of quantitative skin pigmentation phenotypes, we demonstrate that pigmentation is more complex than previously assumed, with genetic architecture varying by latitude. We investigate polygenicity in the KhoeSan populations indigenous to southern Africa who have considerably lighter skin than equatorial Africans. We demonstrate that skin pigmentation is highly heritable, but known pigmentation loci explain only a small fraction of the variance. Rather, baseline skin pigmentation is a complex, polygenic trait in the KhoeSan. Despite this, we identify canonical and non-canonical skin pigmentation loci, including near SLC24A5, TYRP1, SMARCA2/VLDLR, and SNX13, using a genome-wide association approach complemented by targeted resequencing. By considering diverse, under-studied African populations, we show how the architecture of skin pigmentation can vary across humans subject to different local evolutionary pressures.

Indexed as

Skin PigmentationAfricaBlack PeopleHumansPolymorphism, Single NucleotideAfricaheritabilityhuman evolutionpigmentationpopulation genetics

Identifiers

PMID29195075
PMCPMC5884124

What OpenQuestion holds

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Registered trials

None linked

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.