Research establishes traces of Neandertal DNA present in genome of modern humans

“Ancient DNA caused a revolution in how we think about human evolution,” says Steven Churchill, co-author of the study and a professor of evolutionary anthropology at Duke University. “We often think of evolution as branches on a tree, and researchers have spent a lot of time trying to trace back the path that led to us, Homo sapiens. But we’re now beginning to understand that it isn’t a tree – it’s more like a series of streams that converge and diverge at multiple points.”

“Our work here gives us a deeper understanding of where those streams came together,” says Ann Ross, corresponding author of the study and a professor of biological sciences at North Carolina State University.

Neanderthal/Photo:en.wikipedia.org

“The picture is really complicated,” Churchill says. “We know there was interbreeding. Modern Asian populations seem to have more Neandertal DNA than modern European populations, which is weird – because Neandertals lived in what is now Europe. That has suggested that Neandertals interbred with what are now modern humans as our prehistoric ancestors left Africa, but before spreading to Asia. Our goal with this study was to see what additional light we could shed on this by assessing the facial structure of prehistoric humans and Neandertals.”

“By evaluating facial morphology, we can trace how populations moved and interacted over time,” Ross explains. “And the evidence shows us that the Near East was an important crossroads, both geographically and in the context of human evolution.”

For this study, the researchers collected data on craniofacial morphology from the published literature. This ultimately resulted in a data set including 13 Neandertals, 233 prehistoric Homo sapiens, and 83 modern humans.

The researchers focused on standard craniofacial measurements, which are reproducible, and used those measurements to assess the size and shape of key facial structures. This then allowed the researchers to do an in-depth analysis to determine whether a given human population was likely to have interbred with Neandertal populations, as well as the extent of that likely interbreeding.

“Neandertals had big faces,” Churchill says. “But size alone doesn’t establish any genetic link between a human population and Neandertal populations. Our work here involved a more robust analysis of the facial structures.”

The researchers also accounted for environmental variables that are associated with changes in human facial characteristics, to determine the likelihood that connections they established between Neandertal and human populations were the result of interbreeding rather than other factors.

“We found that the facial characteristics we focused on were not strongly influenced by climate, which made it easier to identify likely genetic influences,” Ross says. “We also found that facial shape was a more useful variable for tracking the influence of Neandertal interbreeding in human populations over time. Neandertals were just bigger than humans. Over time, the size of human faces became smaller, generations after they had bred with Neandertals. But the actual shape of some facial features retained evidence of interbreeding with Neandertals.”

“This was an exploratory study,” Churchill says. “And, honestly, I wasn’t sure this approach would actually work – we have a relatively small sample size, and we didn’t have as much data on facial structures as we would have liked. But, ultimately, the results we got are really compelling.

“To build on this, we’d like to incorporate measurements from more human populations, such as the Natufians, who lived more than 11,000 years ago on the Mediterranean in what is now Israel, Jordan and Syria.”

Neanderthal gene in modern women helps give birth to more children, says study

 “The progesterone receptor is an example of how favourable genetic variants that were introduced into modern humans by mixing with Neanderthals can have effects in people living today,” says Hugo Zeberg, researcher at the Department of Neuroscience at Karolinska Institutet and the Max Planck Institute for Evolutionary Anthropology, who performed the study with colleagues Janet Kelso and Svante Pääbo.

Neanderthals in a cave /Searchmap.eu

“The proportion of women who inherited this gene is about ten times greater than for most Neanderthal gene variants,” says Hugo Zeberg. “These findings suggest that the Neanderthal variant of the receptor has a favourable effect on fertility.”

Genomic Evidence from Past Studies

It’s thought that the Neanderthals and modern humans encountered in ancient periods and had sexual rendezvous, according to genomic evidence from past studies. Scientists believe that Western Asia is the most likely spot where it happened, said a 2017 study that analyzed the genetic material of people living in the region today, identifying DNA sequences inherited from Neanderthals.

“As far as human history goes, this area was the stepping stone for the peopling of all of Eurasia,” said Omer Gokcumen of biological sciences in the University at Buffalo College of Arts and Sciences. “This is where humans first settled when they left Africa. It may be where they first met Neanderthals. From the standpoint of genetics, it’s a very interesting region.”

The scientists analyzed 16 genomes belonging to people of Turkish descent. For example, one DNA sequence that originated from Neanderthals includes a genetic variant linked to celiac disease. Another includes a variant tied to a lowered risk for malaria. The bottom line is that Neanderthals tens of thousands of years ago may continue to exert an influence on our well-being today, Gokcumen says.