Jan. 30, 2020

After sequencing the Neanderthal genome, scientists discovered all present day non-African individuals carry some Neanderthal ancestry in their DNA. Now, researchers at Princeton University present evidence of Neanderthal ancestry in African populations too, and its origin provides new insights into human history.

When the first Neanderthal genome was sequenced, using DNA collected from ancient bones, it was accompanied by the discovery that modern humans in Asia, Europe and America inherited approximately 2% of their DNA from Neanderthals — proving humans and Neanderthals had interbred after humans left Africa. Since that study, new methods have continued to catalogue Neanderthal ancestry in non-African populations, seeking to better understand human history and the effects of Neanderthal DNA on human health and disease. A comparable catalogue of Neanderthal ancestry in African populations, however, has remained an acknowledged blind spot for the field due to technical constraints and the assumption that Neanderthals and ancestral African populations were geographically isolated from each other.

In a paper published today in the journal Cell, a team of Princeton researchers detailed a new computational method for detecting Neanderthal ancestry in the human genome. Their method, called IBDmix, enabled them for the first time to search for Neanderthal ancestry in African populations as well as non-African ones. The project was led by Joshua Akey, a professor in Princeton’s Lewis-Sigler Institute for Integrative Genomics (LSI).

Full story, by Aaron Wolf, Lewis-Sigler Institute for Integrative Genomics