Shades of complexity: New perspectives on the evolution and genetic architecture of human skin
Open accessAbstract
Like many highly variable human traits, more than a dozen genes are known to contribute to the full range of skin color. However, the historical bias in favor of genetic studies in European and European-derived populations has blinded us to the magnitude of pigmentation's complexity. As deliberate efforts are being made to better characterize diverse global populations and new sequencing technologies, better measurement tools, functional assessments, predictive modeling, and ancient DNA analyses become more widely accessible, we are beginning to appreciate how limited our understanding of the genetic bases of human skin color have been. Novel variants in genes not previously linked to pigmentation have been identified and evidence is mounting that there are hundreds more variants yet to be found. Even for genes that have been exhaustively characterized in European populations like MC1R, OCA2, and SLC24A5, research in previously understudied groups is leading to a new appreciation of the degree to which genetic diversity, epistatic interactions, pleiotropy, admixture, global and local adaptation, and cultural practices operate in population-specific ways to shape the genetic architecture of skin color. Furthermore, we are coming to terms with how factors like tanning response and barrier function may also have influenced selection on skin throughout human history. By examining how our knowledge of pigmentation genetics has shifted in the last decade, we can better appreciate h…
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Jablonski, N. G. (2021) · American Journal of Physical Anthropology · doi:10.1002/ajpa.24200 · Cited by 139 · see citing works
“…of the large number and diverse modes of action of “skin color genes” has been gratifying and surprising, with studies of the convergent evolution of similar skin colors under similar solar conditions being among the most important (Norton, 2008; Norton et al., 2007, 2016; Quillen et al., 2019).”
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- Authors
- Quillen, E. E., Norton, H. L., Parra, E. J., Lona‐Durazo, F., Ang, K. C., Illiescu, F. M., Pearson, L. N., Shriver, M. D., Lasisi, T., Gokcumen, O., Starr, I., Lin, Y., Martin, A. R., & Jablonski, N. G.
- Affiliations
- Wake Forest University Health Sciences (US)
- University of Cincinnati (US)
- University of Toronto (CA)
- Pennsylvania State University (US)
- Department of Zoology University of Cambridge Cambridge United Kingdom
- Department of Biological Sciences State University of New York at Buffalo Buffalo New York
- University at Buffalo, State University of New York (US)
- Broad Institute (US)
- Corresponding author
- Quillen, Ellen E.
- ORCID
- Venue
- American Journal of Physical Anthropology
- Publisher
- Wiley
- Published
- 2018-11-08
- Volume
- 168
- Issue
- S67
- Pages
- 4-26
- ISSN
- 0002-9483 (ISSN-L)
- 1096-8644
- OpenAlex
- W2900088434
- Cited by
- 67
- References
- 47
- Citations by year
- 2026: 8 · 2025: 7 · 2024: 6 · 2023: 8 · 2022: 8 · 2021: 12 · 2020: 11 · 2019: 7
- FWCI
- 4.16
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- American Journal of Physical Anthropology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Science Foundation (1714867)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Keywords
- human skin color, pigmentation genetics, genetic architecture, MC1R, OCA2, SLC24A5, epistasis, pleiotropy, admixture, local adaptation, skin barrier function, genetic diversity, underrepresented groups, complex human traits
- MeSH terms
- Anthropology, Physical, Biological Evolution, Genetics, Population, Humans, Membrane Proteins, Skin, Skin Physiological Phenomena, Skin Pigmentation, Antiporters, Guanine Nucleotide Exchange Factors, Membrane Transport Proteins, Receptor, Melanocortin, Type 1, Ubiquitin-Protein Ligases
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