Humans whose genetic ancestors lived outside Africa have a small proportion of the genome that traces back to interbreeding events with Neanderthals. To quantify the contribution of this ancestry to present-day phenotypic variation, scientists from Cornell University and elsewhere developed a convincing set of approaches that takes into account various complicating factors and applied it to about 300,000 unrelated white British individuals in the UK Biobank.
“Interestingly, we found that several of the identified genes involved in modern human immune, metabolic and developmental systems might have influenced human evolution after the ancestors’ migration out of Africa,” said Cornell University’s Dr. April (Xinzhu) Wei, lead author of the study.
“We have made our custom software available for free download and use by anyone interested in further research.”
Using a vast dataset from the UK Biobank consisting of genetic and trait information of nearly 300,000 Brits of non-African ancestry, the researchers analyzed more than 235,000 genetic variants likely to have originated from Neanderthals.
They found that 4,303 of those differences in DNA are playing a substantial role in modern humans and influencing 47 distinct genetic traits, such as how fast someone can burn calories or a person’s natural immune resistance to certain diseases.
Unlike previous studies that could not fully exclude genes from modern human variants, the new study leveraged more precise statistical methods to focus on the variants attributable to Neanderthal genes.
While the authors used a dataset of almost exclusively white individuals living in the United Kingdom, their computational methods could offer a path forward in gleaning evolutionary insights from other large databases to delve deeper into archaic humans’ genetic influences on modern humans.
“For scientists studying human evolution interested in understanding how interbreeding with archaic humans tens of thousands…
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