Article Synopsis
- The study explores the genetic basis of skin pigmentation by analyzing ethnically diverse African genomes and identifies specific genetic variants associated with skin color.
- Genetic evidence suggests that the light pigmentation variant in East Africa originated from gene flow with non-African populations, while dark pigmentation variants found in Africans are similar to those in South Asian and Australo-Melanesian groups.
- Functional analyses reveal that certain genes impact melanin production and are linked to ultraviolet light response genes, showing evolutionary selection in Eurasian populations.
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Article Abstract
Despite the wide range of skin pigmentation in humans, little is known about its genetic basis in global populations. Examining ethnically diverse African genomes, we identify variants in or near , , , , , and that are significantly associated with skin pigmentation. Genetic evidence indicates that the light pigmentation variant at was introduced into East Africa by gene flow from non-Africans. At all other loci, variants associated with dark pigmentation in Africans are identical by descent in South Asian and Australo-Melanesian populations. Functional analyses indicate that encodes a lysosomal protein that affects melanogenesis in zebrafish and mice, and that mutations in melanocyte-specific regulatory regions near correlate with expression of ultraviolet response genes under selection in Eurasians.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759959 | PMC |
| http://dx.doi.org/10.1126/science.aan8433 | DOI Listing |
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