Unveiling the Neanderthal Legacy: How Their Genes Continue to Influence Modern Humans

by Manuel Costa
Early European Settlers

A team of researchers from various institutions, including Cornell University, has utilized advanced computational genetic tools to delve into the ongoing impact of Neanderthal genes on human traits among individuals of non-African ancestry. Their findings reveal that certain Neanderthal genes significantly affect modern human immune systems and various other traits. By examining nearly 300,000 UK Biobank datasets, the team discovered 4,303 Neanderthal genetic variants associated with 47 distinct genetic traits. Despite this influence, modern human genes ultimately prevail across generations.

Recent scientific discoveries have shed light on the fact that Neanderthal DNA constitutes approximately 1 to 4% of the genome in present-day humans descended from ancestors who departed Africa. However, the extent to which these genes continue to shape human traits remained uncertain—until now.

The multi-institutional research team, in collaboration with Cornell University, has developed an innovative suite of computational genetic tools to investigate the genetic consequences of interbreeding between humans of non-African ancestry and Neanderthals around 50,000 years ago. It is important to note that this study exclusively applies to descendants of individuals who migrated from Africa before the Neanderthals’ extinction, particularly those of European ancestry.

In their study published in eLife, the researchers disclosed that certain Neanderthal genes contribute to specific traits in modern humans, particularly those with a notable impact on the immune system. Nevertheless, the study overall demonstrates that modern human genes have the upper hand in successive generations.

“Significantly, we observed that several genes associated with modern human immune, metabolic, and developmental systems might have influenced human evolution following the migration of our ancestors out of Africa,” explained study co-lead author April (Xinzhu) Wei, an assistant professor of computational biology in the College of Arts and Sciences. “We have made our custom software freely available for download and use by anyone interested in further research.”

By employing an extensive dataset from the UK Biobank, comprising genetic and trait information from nearly 300,000 individuals of non-African ancestry, the researchers analyzed over 235,000 genetic variants likely derived from Neanderthals. Among these variants, they identified 4,303 significant differences in DNA that play a substantial role in modern humans, influencing 47 distinct genetic traits. These traits encompass characteristics such as metabolic rate and innate immune resistance to specific diseases.

Unlike previous studies that could not entirely distinguish modern human variants from Neanderthal genes, this new study employed more precise statistical methods, focusing specifically on variants attributable to Neanderthal genes.

While the dataset used in this study primarily consists of individuals of white ethnicity residing in the United Kingdom, the novel computational methods developed by the research team could pave the way for gaining evolutionary insights from other extensive databases, enabling a deeper understanding of the genetic influence of archaic humans on modern populations.

“For scientists studying human evolution and seeking to comprehend how interbreeding with archaic humans tens of thousands of years ago continues to shape the biology of many present-day humans, this study can provide valuable insights,” said senior investigator Sriram Sankararaman, an associate professor at the University of California, Los Angeles. “Moreover, our findings can offer new perspectives for evolutionary biologists investigating the potential beneficial and detrimental consequences of these historical events.”

Reference: “The lingering effects of Neanderthal introgression on human complex traits” by Xinzhu Wei, Christopher R Robles, Ali Pazokitoroudi, Andrea Ganna, Alexander Gusev, Arun Durvasula, Steven Gazal, Po-Ru Loh, David Reich, and Sriram Sankararaman, 20 March 2023, eLife.
DOI: 10.7554/eLife.80757

The research received support from grants provided by the National Institutes of Health and the National Science Foundation, along with additional funding from an Alfred P Sloan Research Fellowship and a gift from the Okawa Foundation. Other authors received financial support from the Paul G. Allen Frontiers Group, the John Templeton Foundation, the Howard Hughes Medical Institute, the Burroughs Wellcome Fund, and the Next Generation Fund at the Broad Institute of MIT and Harvard.

Frequently Asked Questions (FAQs) about Neanderthal genes

What is the main focus of the research?

The main focus of the research is to examine the ongoing influence of Neanderthal genes on modern humans, particularly those of non-African ancestry, and how these genes impact various traits, including the immune system.

How was the research conducted?

The research was conducted by a multi-institutional team, including Cornell University, using a suite of computational genetic tools. They analyzed a vast dataset from the UK Biobank, consisting of genetic and trait information from nearly 300,000 individuals of non-African ancestry.

What were the key findings of the study?

The study revealed that certain Neanderthal genes significantly affect modern human traits, with 4,303 genetic variants identified to have an impact on 47 distinct genetic traits. These traits include aspects such as metabolic rate and innate immune resistance to specific diseases.

How do modern human genes compare to Neanderthal genes?

Overall, the study indicates that modern human genes are prevailing over successive generations. While Neanderthal genes still influence certain traits, modern human genes demonstrate a stronger influence.

Can the research be applied to other populations?

The study primarily focused on individuals of non-African ancestry, particularly those of European descent. However, the computational methods developed by the research team have the potential to be applied to other large databases, enabling a deeper understanding of archaic humans’ genetic influences on modern populations.

Are the research findings publicly available?

Yes, the custom software developed by the researchers is available for free download and use by anyone interested in further research. This allows other scientists to explore the implications and expand upon the findings of the study.

More about Neanderthal genes

  • eLife: “The lingering effects of Neanderthal introgression on human complex traits”

  • National Institutes of Health (NIH)

  • National Science Foundation (NSF)

  • Alfred P Sloan Research Fellowship

  • Okawa Foundation

  • Paul G. Allen Frontiers Group

  • John Templeton Foundation

  • Howard Hughes Medical Institute (HHMI)

  • Burroughs Wellcome Fund

  • Next Generation Fund at the Broad Institute of MIT and Harvard

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CuriousCat99 June 15, 2023 - 8:50 am

so, our ancestors really got it on with Neanderthals? that’s wild! but it’s amazing to see how our genes have evolved over time. i hope they can study other populations too, not just the ones in the UK.

JohnDoe123 June 15, 2023 - 10:04 am

interesting research! who knew that we still have Neanderthal genes in us? i wonder how they affect our immune system and other traits. can we use this info for medical stuff?

HistoryBuff23 June 15, 2023 - 12:25 pm

it’s mind-blowing to think about how interbreeding between ancient humans and Neanderthals still impacts us today. i wonder what other surprises our genetic history holds. science is like a never-ending detective story!

LanguageLover June 15, 2023 - 6:18 pm

i’m impressed by the researchers’ use of computational tools to analyze the massive dataset. it’s great that they’re making their software available for others to use. more collaboration means more discoveries!

BioGeekGirl June 15, 2023 - 8:44 pm

genetics is so fascinating! this study shows that even though Neanderthal genes still have some influence, our modern human genes are the winners in the long run. it’s like an ongoing genetic battle between the past and the present.

ScienceNerd42 June 15, 2023 - 10:29 pm

cool, they used computational tools to dig into our genetic past and find out how Neanderthal genes are still at play in modern humans. i love how science keeps uncovering these hidden connections!


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