Evidence map›Paper›PMID 37561850›Full record

ArticleScience (New York, N.Y.)2023

A genome-wide genetic screen uncovers determinants of human pigmentation.

Vivek K Bajpai, Tomek Swigut, Jaaved Mohammed, Sahin Naqvi, Martin Arreola, Josh Tycko, Tayne C Kim, Jonathan K Pritchard, Michael C Bassik, Joanna Wysocka

Open access · hybridAbstract read
In one paragraph

Article in Science (New York, N.Y.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed
10.2field-weighted citation impact, top 1% of its field
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

35 citing papers in PubMed, 49 citations in OpenAlex.

  1. Ancient DNA and Human Physiology.Physiology (Bethesda, Md.) · 2026
    Review
  2. 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
  3. Article
  4. Structural Mechanisms of DNAJC13 Dimeric Assembly and InsPbioRxiv : the preprint server for biology · 2026
    Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 3 institutions in 1 country.

Vivek K BajpaiDepartment of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.ORCID 0000-0003-4659-3211
Tomek SwigutDepartment of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.ORCID 0000-0002-7649-6781
Jaaved Mohammed *Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.ORCID 0000-0002-7053-5575
Sahin Naqvi *Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.ORCID 0000-0003-2635-7967
Martin ArreolaInstitute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.ORCID 0009-0001-3703-4760
Josh TyckoDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.ORCID 0000-0002-4108-0575
Tayne C KimDepartment of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.ORCID 0000-0001-6549-3588
Jonathan K PritchardDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.ORCID 0000-0002-8828-5236
Michael C BassikDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.ORCID 0000-0001-5185-8427
Joanna WysockaDepartment of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.ORCID 0000-0002-6909-6544
Stanford University · USHoward Hughes Medical Institute · USUniversity of Oklahoma · US

Funding

Uncovering fundamentals of gene regulation by enhancersR35GM131757 · NIGMS · STANFORD UNIVERSITY · PI Joanna Wysocka · 2019 to 2026
$3.1M
Mapping and prediction of quantitative transcription factor dosage effects to understand variation in craniofacial morphology and diseaseK99DE032729 · NIDCR · STANFORD UNIVERSITY · PI NAQVI, SAHIN · 2023 to 2024
$248k
Howard Hughes Medical InstituteNIDCR NIH HHS K99 DE032729NIGMS NIH HHS R35 GM131757
6 · The paper itself

Abstract

Skin color, one of the most diverse human traits, is determined by the quantity, type, and distribution of melanin. In this study, we leveraged the light-scattering properties of melanin to conduct a genome-wide screen for regulators of melanogenesis. We identified 169 functionally diverse genes that converge on melanosome biogenesis, endosomal transport, and gene regulation, of which 135 represented previously unknown associations with pigmentation. In agreement with their melanin-promoting function, the majority of screen hits were up-regulated in melanocytes from darkly pigmented individuals. We further unraveled functions of KLF6 as a transcription factor that regulates melanosome maturation and pigmentation in vivo, and of the endosomal trafficking protein COMMD3 in modulating melanosomal pH. Our study reveals a plethora of melanin-promoting genes, with broad implications for human variation, cell biology, and medicine.

Indexed as

Adaptor Proteins, Signal TransducingKruppel-Like Factor 6MelaninsMelanocytesMelanosomesSkin PigmentationAnimalsCell Line, TumorEndosomesGenome-Wide Association StudyHumansMiceAdaptor Proteins, Signal TransducingCOMMD3 protein, humanKLF6 protein, humanKruppel-Like Factor 6Melanins

Identifiers

PMID37561850
PMCPMC10901463
OpenAlexW4385727322

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.