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Shades of complexity: New perspectives on the evolution and genetic architecture of human skin
Author(s) -
Quillen Ellen E.,
Norton Heather L.,
Parra Esteban J.,
LonaDurazo Frida,
Ang Khai C.,
Illiescu Florin Mircea,
Pearson Laurel N.,
Shriver Mark D.,
Lasisi Tina,
Gokcumen Omer,
Starr Izzy,
Lin YenLung,
Martin Alicia R.,
Jablonski Nina G.
Publication year - 2019
Publication title -
american journal of physical anthropology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.146
H-Index - 119
eISSN - 1096-8644
pISSN - 0002-9483
DOI - 10.1002/ajpa.23737
Subject(s) - genetic architecture , evolutionary biology , adaptation (eye) , biology , epistasis , pleiotropy , human genetic variation , population , selection (genetic algorithm) , genetics , human genome , gene , phenotype , genome , demography , sociology , computer science , artificial intelligence , neuroscience
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.