Lingering effects of Neanderthal DNA found in modern humans

Date:
June 8, 2023
Source:
Cornell University
Summary:
Recent scientific discoveries have shown that Neanderthal genes
comprise some 1 to 4% of the genome of present-day humans whose
ancestors migrated out of Africa, but the question remained open on
how much those genes are still actively influencing human traits --
until now.


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FULL STORY ========================================================================== Recent scientific discoveries have shown that Neanderthal genes comprise
some 1 to 4% of the genome of present-day humans whose ancestors migrated
out of Africa, but the question remained open on how much those genes
are still actively influencing human traits -- until now.

A multi-institution research team including Cornell University has
developed a new suite of computational genetic tools to address the
genetic effects of interbreeding between humans of non-African ancestry
and Neanderthals that took place some 50,000 years ago. (The study applies
only to descendants of those who migrated from Africa before Neanderthals
died out, and in particular, those of European ancestry.) In a study
published in eLife, the researchers reported that some Neanderthal genes
are responsible for certain traits in modern humans, including several
with a significant influence on the immune system. Overall, however,
the study shows that modern human genes are winning out over successive generations.

"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 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 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 study used a dataset of almost exclusively white individuals
living in the United Kingdom, the new computational methods developed
by the team 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 of years ago still
shapes the biology of many present-day humans, this study can fill in
some of those blanks," said senior investigator Sriram Sankararaman, an associate professor at the University of California, Los Angeles. "More broadly, our findings can also provide new insights for evolutionary
biologists looking at how the echoes of these types of events may
have both beneficial and detrimental consequences." The other co-lead
author on the study is Christopher Robles, postdoctoral researcher at
UCLA. Additional authors are UCLA doctoral student Ali Pazokitoroudi;
Andrea Ganna of Massachusetts General Hospital and the Broad Institute of
MIT and Harvard; Alexander Gusev and Arun Durvasula of Harvard Medical
School; Steven Gazal of USC; Po-Ru Loh of the Broad Institute of MIT
and Harvard; and David Reich of Harvard University.

The research was supported by grants from the National Institutes of
Health and the National Science Foundation, with additional funding
from an Alfred P Sloan Research Fellowship and a gift from the Okawa Foundation. Other authors received funding 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.

* RELATED_TOPICS
o Health_&_Medicine
# Genes # Human_Biology # Medical_Topics # Immune_System
o Fossils_&_Ruins
# Early_Humans # Human_Evolution # Evolution # Cultures
* RELATED_TERMS
o Human_Genome_Project o Human_genome o Gene o BRCA2 o
Timeline_of_human_evolution o Gene_therapy o Race o Evolution

========================================================================== Story Source: Materials provided by Cornell_University. Note: Content
may be edited for style and length.


========================================================================== Journal Reference:
1. Christopher R Robles, Xinzhu Wei, Ali Pazokitoroudi, Andrea Ganna,
Alexander Gusev, Arun Durvasula, Steven Gazal, Po-Ru Loh, David
Reich, Sriram Sankararaman. The lingering effects of Neanderthal
introgression on human complex traits. eLife, 2023; 12 DOI:
10.7554/eLife.80757 ==========================================================================

Link to news story: https://www.sciencedaily.com/releases/2023/06/230608195656.htm

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