Study Identifies Genes Responsible for Diversity of Human Skin Colors

Human populations feature a broad palette of skin tones. But until now, few genes have been shown to contribute to normal variation in skin color, and these had primarily been discovered through studies of European populations. Now, a study of diverse African groups has identified new genetic variants associated with skin pigmentation. The findings help explain the vast range of skin color on the African continent, shed light on human evolution and inform an understanding of the genetic risk factors for conditions such as skin cancer.

“We have identified new genetic variants that contribute to the genetic basis of one of the most strikingly variable traits in modern humans,” says Sarah Tishkoff, a Penn Integrates Knowledge Professor and the David and Lyn Silfen University Professor with appointments in both the School of Arts and Sciences and the Perelman School of Medicine. “When people think of skin color in Africa most would think of darker skin, but we show that within Africa there is a huge amount of variation, ranging from skin as light as some Asians to the darkest skin on a global level and everything in between. We identify genetic variants affecting these traits and show that mutations influencing light and dark skin have been around for a long time, since before the origin of modern humans.”

The findings are published in the journal Science. Tishkoff, senior author, collaborated with first author and lab member Nicholas Crawford, a postdoctoral fellow, and a multi-institutional, international team.

Tishkoff has long studied the genetics of African populations, looking at traits such as height, lactose tolerance, bitter-taste sensitivity and high-altitude adaptation. Skin color emerged as a trait of interest from her experience working on the continent and seeing the diversity present across groups.

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