Research into ancient DNA has revolutionized our understanding of human evolution, unraveling the intricate genetic ties between modern humans and their closest relatives, the Neanderthals. A recent study conducted by scientists from the Max Planck Institute for Evolutionary Anthropology and the University of California, Berkeley, reveals how interactions between the two species left an indelible mark on the genetics of modern non-African humans.

Approximately 50,000 years ago, the first modern humans who migrated out of Africa encountered Neanderthals in Eurasia. This meeting resulted not only in cultural exchange but also in genetic intermingling. Analysis of 300 current and ancient genomes identified a significant event of genetic flow around 47,000 years ago, leaving between one and two percent of Neanderthal DNA in modern non-African humans.

This unique event, which occurred shortly after the out-of-Africa migration, aligns with archaeological evidence showing the coexistence of the two species in Europe and Asia during this period. The fragments of Neanderthal DNA, whose lengths decrease with each generation, were pivotal in determining that this genetic exchange lasted for approximately 7,000 years.

Homo sapiens neanderthalensis
The researchers found that the vast majority of Neandertal ancestry can be traced to a single, shared, extended period of gene flow into the common ancestors of all non-African individuals today. Credit: AI-generated / DALL-E & BioRender

The impact of Neanderthal DNA on modern humans was not uniform. Some inherited variants proved beneficial, aiding humans in adapting to environments outside Africa. These variants include genes related to skin pigmentation, immune function, and metabolism. Such changes facilitated survival in colder climates and areas exposed to different pathogens.

However, not all genetic contributions were advantageous. Extensive regions of the modern human genome are entirely devoid of Neanderthal DNA, suggesting that many of these genetic segments were detrimental and rapidly purged by natural selection.

Interestingly, these regions are also absent in the genomes of ancient humans from 30,000 to 45,000 years ago, reinforcing the hypothesis that certain Neanderthal sequences were unfavorable for modern humans.

Homo sapiens neanderthalensis
The researchers identified regions with Neandertal ancestry in over 300 individuals. They assessed sharing of segments, inferred gene flow, and looked at variation to identify candidates for positive and negative selection. Credit: Leonardo Iasi et al.

The analysis of this genetic exchange not only sheds light on the relationship between modern humans and Neanderthals but also provides clues about human dispersal out of Africa. The data suggests that the major migration into Eurasia occurred no later than 43,500 years ago, establishing a timeline for the colonization of new regions.

Additionally, the observed genetic diversity among non-African populations could be explained by the structure of populations during the genetic flow event. For instance, early differentiation among human groups outside Africa may have begun concurrently with genetic mixing with Neanderthals, explaining variations in Neanderthal DNA proportions across different modern populations.

The research also highlights future directions: studying more ancient genomes from Eurasia and Oceania could provide a more detailed perspective on how modern humans expanded across the globe. This approach promises to unravel the yet-unknown chapters of our complex evolutionary history.


SOURCES

Max Planck Institute for Evolutionary Anthropology

Leonardo N. M. Iasi, Manjusha Chintalapati, Laurits Skov, et al., Neanderthal ancestry through time: Insights from genomes of ancient and present-day humans. Science, 2024; 386 (6727) DOI: 10.1126/science.adq3010


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