Nov 9, 2018

Shades of complexity: New perspectives on the evolution and genetic architecture of human skin

American Journal of Physical Anthropology
Ellen E QuillenN G Jablonski

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...Continue Reading

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Mentioned in this Paper

Research
Genes
SLC24A5 gene
OCA2 gene
Nucleic Acid Sequencing
Genetic Pleiotropy
SLC24A5
Ancient DNA
Evaluation
Sequencing

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