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The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals

View ORCID ProfileStéphane Peyrégne, View ORCID ProfileJanet Kelso, View ORCID ProfileBenjamin M. Peter, View ORCID ProfileSvante Pääbo
doi: https://doi.org/10.1101/2021.11.29.470407
Stéphane Peyrégne
Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology, Deutscher Platz 6, D-04103 Leipzig, Germany
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  • For correspondence: [email protected] [email protected]
Janet Kelso
Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology, Deutscher Platz 6, D-04103 Leipzig, Germany
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Benjamin M. Peter
Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology, Deutscher Platz 6, D-04103 Leipzig, Germany
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Svante Pääbo
Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology, Deutscher Platz 6, D-04103 Leipzig, Germany
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  • For correspondence: [email protected] [email protected]
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Abstract

Proteins associated with the spindle apparatus, a cytoskeletal structure that ensures the proper segregation of chromosomes during cell division, experienced an unusual number of amino acid substitutions in modern humans after the split from the ancestors of Neandertals and Denisovans. Here, we analyze the history of these substitutions and show that some of the genes in which they occur may have been targets of positive selection. We also find that the two changes in the kinetochore scaffold 1 (KNL1) protein, previously believed to be specific to modern humans, were present in some Neandertals. We show that the KNL1 gene of these Neandertals shared a common ancestor with present-day Africans about 200,000 years ago due to gene flow from the ancestors (or relatives) of modern humans into Neandertals. Subsequently, some non-Africans inherited this modern human-like gene variant from Neandertals, but none inherited the ancestral gene variants. These results add to the growing evidence of early contacts between modern humans and archaic groups in Eurasia and illustrate the intricate relationships among these groups.

Competing Interest Statement

The authors have declared no competing interest.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted November 30, 2021.
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The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals
Stéphane Peyrégne, Janet Kelso, Benjamin M. Peter, Svante Pääbo
bioRxiv 2021.11.29.470407; doi: https://doi.org/10.1101/2021.11.29.470407
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The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals
Stéphane Peyrégne, Janet Kelso, Benjamin M. Peter, Svante Pääbo
bioRxiv 2021.11.29.470407; doi: https://doi.org/10.1101/2021.11.29.470407

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