Africa A molecular look at the mechanisms behind pigmentation variation

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

Researchers from the University of Pennsylvania have discovered key insights into the molecular basis of skin color variations among African populations. Their findings, published in Nature Genetics, broaden the understanding of human evolution and the genetics underpinning contemporary human skin color diversity.

“Despite the abundant genetic diversity within African populations, they have been historically underrepresented in genetic studies,” says senior author Sarah Tishkoff, 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.”

The story of human evolution is as rich and diverse as the adaptations found across the world’s populations, Tishkoff says. She notes that, among many adaptive traits, skin color stands out as one of the most well-known. Darker skin tones, prevalent in equatorial regions, serve as nature’s very own sunblock, evolving over millennia to shield these populations from the sun’s intense ultraviolet radiation. Conversely, lighter pigmentation, as seen in populations closer to the poles, is an adaptation to mitigate the risks of insufficient sun exposure by maximizing vitamin D production, which is triggered by UV exposure.

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