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Model reveals surprising disconnect between physical characteristics and genetic ancestry in certain populations

Picture of a population

A new model developed by Stanford biologists finds that, over generations, visible physical traits – such as skin color – might not “match” genetic ancestry in certain populations.

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Apr 6 2021

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Research, Faculty

A new study by Stanford University biologists finds an explanation for the idea that physical characteristics such as skin pigmentation are “only skin deep.” Using genetic modeling, the team has found that when two populations with distinct traits combine over generations, traits of individuals within the resulting “admixed” population come to reveal very little about individuals’ ancestry. Their findings were published March 27 in a special edition of the American Journal of Physical Anthropology on race and racism.

“When two founding groups first come together, a visible physical trait that differed between those founders initially carries information about the genetic ancestry of admixed individuals,” says Jaehee Kim, a postdoctoral research fellow in biology at Stanford and first author of the study. “But this study shows that after enough time has passed, that’s no longer true, and you can no longer identify a person’s genetic ancestry based only on such traits.”

Working with Stanford biology professor Noah Rosenberg and others, Kim built a mathematical model to better understand genetic admixture – the process by which two populations that have long been separated come together and create a third admixed population with ancestral roots in both sources. They specifically studied how the relationship between physical traits and genetic admixture level changes over time.

The study found that over time, traits that might have initially been indicative of an individual’s genetic ancestry ultimately no longer carried that information. While this decoupling of ancestry and traits occurred more slowly if mating was assortative rather than random, decoupling still happened in all scenarios.

“In the model, if assortative mating depends on a genetically inherited trait, a correlation between the trait and genetic ancestry would last longer than if mating had occurred randomly, but the correlation would still disassociate eventually,” said Rosenberg, senior author of the paper, who holds the Stanford Professorship in Population Genetics and Society in the School of Humanities and Sciences.

According to Kim, the new findings have important implications for understanding the social meaning of physical traits.

“When societies attach social meaning to a trait like skin pigmentation, the model suggests that after admixture has been ongoing for enough time, that trait is not going to be telling us much about genetic ancestry – or about other traits that are based in genetics,” she said.