Shades of complexity

New perspectives on the evolution and genetic architecture of human skin

Ellen E. Quillen, Heather L. Norton, Esteban J. Parra, Frida Lona-Durazo, Khai Ang, Florin Mircea Illiescu, Laurel N. Pearson, Mark Shriver, Tina Lasisi, Omer Gokcumen, Izzy Starr, Yen Lung Lin, Alicia R. Martin, Nina G. Jablonski

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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 how far we have come in understanding human diversity and the still long road ahead for understanding many complex human traits.

Original languageEnglish (US)
Pages (from-to)4-26
Number of pages23
JournalAmerican Journal of Physical Anthropology
Volume168
DOIs
StatePublished - Jan 1 2019

Fingerprint

Molecular Evolution
Medical Genetics
Skin Pigmentation
Pigmentation
Skin
Population
Tanning
Genes
History
new technology
Technology
road
Research
trend
history
interaction
evidence
Group

All Science Journal Classification (ASJC) codes

  • Anatomy
  • Anthropology

Cite this

Quillen, Ellen E. ; Norton, Heather L. ; Parra, Esteban J. ; Lona-Durazo, Frida ; Ang, Khai ; Illiescu, Florin Mircea ; Pearson, Laurel N. ; Shriver, Mark ; Lasisi, Tina ; Gokcumen, Omer ; Starr, Izzy ; Lin, Yen Lung ; Martin, Alicia R. ; Jablonski, Nina G. / Shades of complexity : New perspectives on the evolution and genetic architecture of human skin. In: American Journal of Physical Anthropology. 2019 ; Vol. 168. pp. 4-26.
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Quillen, EE, Norton, HL, Parra, EJ, Lona-Durazo, F, Ang, K, Illiescu, FM, Pearson, LN, Shriver, M, Lasisi, T, Gokcumen, O, Starr, I, Lin, YL, Martin, AR & Jablonski, NG 2019, 'Shades of complexity: New perspectives on the evolution and genetic architecture of human skin', American Journal of Physical Anthropology, vol. 168, pp. 4-26. https://doi.org/10.1002/ajpa.23737

Shades of complexity : New perspectives on the evolution and genetic architecture of human skin. / Quillen, Ellen E.; Norton, Heather L.; Parra, Esteban J.; Lona-Durazo, Frida; Ang, Khai; Illiescu, Florin Mircea; Pearson, Laurel N.; Shriver, Mark; Lasisi, Tina; Gokcumen, Omer; Starr, Izzy; Lin, Yen Lung; Martin, Alicia R.; Jablonski, Nina G.

In: American Journal of Physical Anthropology, Vol. 168, 01.01.2019, p. 4-26.

Research output: Contribution to journalArticle

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AU - Ang, Khai

AU - Illiescu, Florin Mircea

AU - Pearson, Laurel N.

AU - Shriver, Mark

AU - Lasisi, Tina

AU - Gokcumen, Omer

AU - Starr, Izzy

AU - Lin, Yen Lung

AU - Martin, Alicia R.

AU - Jablonski, Nina G.

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