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Unraveling Human History: New Studies Reveal Impact of Neanderthal DNA on Modern Humans

Leipzig, 12 December 2024: Two studies published in Nature and Science offer new insights into the role of Neandertal DNA in the evolution of modern humans.

In Science, Iasi et al. sought to establish the timing, duration and subsequent effects of Neandertal gene flow into modern humans by studying ancient and modern human genomes. The researchers linked the first major  Neandertal gene flow event, which occurred about 47,000 years ago and lasted about 7,000 years, to archaeological evidence of human and Neandertal coexistence in Europe. The gene flow event left in the human genome specific Neandertal variants related to immune function, skin pigmentation and metabolism. Other variants, thought to be deleterious, were rapidly lost after admixture.

In Nature, Sümer et al. highlight the insights provided by ancient genomes from individuals from the European sites of Zlatý kůň and Ranis. The high-quality genomes indicated early divergence from other non-African migrants and no recent Neandertal admixture, suggesting a different interaction or migration pattern. Despite the divergence, the Neandertal ancestry in this population was consistent with that found in all non-African populations today, suggesting a common ancient gene flow event (see: Iasi et al, Science). These genomes also showed traits reflecting their recent African origin, such as dark skin, hair colour and brown eyes.

Both studies make significant contributions to our understanding of human evolution, migration and the complex history and impact of Neandertal gene flow into modern humans.

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Images

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Illustration of Zlatý kůň, who belonged to the same population as the Ranis individuals and was closely related to two of them. © Tom Björklund for Max Planck Institute for Evolutionary Anthropology
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Illustration of the Zlatý kůň/Ranis group. Around 45,000 years ago, individuals from Ranis in Germany and Zlatý kůň in Czechia likely traveled together across the open steppe landscapes of Europe. © Tom Björklund for Max Planck Institute for Evolutionary Anthropology
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Prosek (Main) Dóme of Koněprusy Caves - the area of excavation/research in the 1950s is the left side of the stalagmite. © Martin Frouz
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Prosek (Main) Dóme of the Koněprusy Caves. © Martin Frouz
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Koněprusy - View from Houb's quarry on Zlatý kůň hill; on the wall, roughly in the middle at the top, is the entrance from which the cave was discovered. © Martin Frouz
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The Zlatý kůň skull from fronto-lateral view. © Marek Jantač
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The Zlatý kůň skull from right lateral view. © Marek Jantač
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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. © Leonardo Iasi, MPI-EVA, AI-generated using DALL-E & BioRender.com
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The researchers identified regions with Neanderthal 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. © Leonardo Iasi et al., Science (2024)
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Die Forschenden identifizierten Genabschnitte mit Neandertaler-Abstammung bei mehr als 300 Individuen. Sie ermittelten gemeinsame Abschnitte, schlossen auf Genfluss, untersuchten Variationen und identifizierten Kandidaten für positive und negative Selektion. © Leonardo Iasi et al., Science (2024)