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The Genetics of Human Skin and Hair Pigmentation

Authors
  • Pavan, William J.
  • Sturm, Richard A.
Type
Published Article
Journal
Annual Review of Genomics and Human Genetics
Publisher
Annual Reviews
Publication Date
Aug 31, 2019
Volume
20
Pages
41–72
Identifiers
DOI: 10.1146/annurev-genom-083118-015230
Source
Annual Reviews
Keywords
License
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Abstract

Human skin and hair color are visible traits that can vary dramatically within and across ethnic populations. The genetic makeup of these traits—including polymorphisms in the enzymes and signaling proteins involved in melanogenesis, and the vital role of ion transport mechanisms operating during the maturation and distribution of the melanosome—has provided new insights into the regulation of pigmentation. A large number of novel loci involved in the process have been recently discovered through four large-scale genome-wide association studies in Europeans, two large genetic studies of skin color in Africans, one study in Latin Americans, and functional testing in animal models. The responsible polymorphisms within these pigmentation genes appear at different population frequencies, can be used as ancestry-informative markers, and provide insight into the evolutionary selective forces that have acted to create this human diversity.

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