Molecular Look at Mechanisms Behind Pigmentation Variation

A new collaborative study of African populations offers a better understanding of genes and variants responsible for skin color, providing insights into human evolution and local adaptation.

A member of Dr. Tishkoff’s research team draws blood from a participant to extract the genetic information that will inform the study. (Image: Courtesy of Sarah Tishkfoff and Alessia Ranciaro).
Researchers from the University of Pennsylvania, and colleagues, have discovered key insights into the molecular basis of skin color variations among African populations. Their findings, published January 10, 2024 in Nature Genetics, broaden the understanding of human evolution and the genetics underpinning contemporary human skin color diversity. The article is titled “Integrative Functional Genomic Analyses Identify Genetic Variants Influencing Skin Pigmentation in Africans.” “Despite the abundant genetic diversity within African populations, they have been historically under-represented in genetic studies,” says senior author Sarah Tishkoff, PhD, a Penn Integrates Knowledge University Professor with appointments in the Perelman School of Medicine and School of Arts & Sciences. “Our findings offer novel information about the genetic basis and evolutionary history of skin color diversity, contributing to a clearer depiction of human evolution.”
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