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

Peyrégne, S., Kelso, J., Peter, B. M., & Pääbo, S. (2022). The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals. eLife, 11: e75464. doi:10.7554/eLife.75464.

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Peyrégne_Evolutionary_eLife_2022.pdf (Publisher version), 3MB
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This article is distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use and redistribution provided that the original author and source are credited.

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Peyrégne, Stéphane1, Author                 
Kelso, Janet2, Author                 
Peter, Benjamin M.3, Author                 
Pääbo, Svante4, 5, Author                 
Affiliations:
1Genomes, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society, ou_2074331              
2The Minerva Research Group for Bioinformatics, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society, ou_2074303              
3Genetic Diversity through Space and Time, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society, ou_2559696              
4Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society, ou_1497672              
5Neandertals and more, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society, Deutscher Platz 6, 04103 Leipzig, DE, ou_2074328              

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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.

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Language(s): eng - English
 Dates: 2022-07-11
 Publication Status: Published online
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 Rev. Type: Peer
 Identifiers: DOI: 10.7554/eLife.75464
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Title: eLife
Source Genre: Journal
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Publ. Info: Cambridge : eLife Sciences Publications
Pages: - Volume / Issue: 11 Sequence Number: e75464 Start / End Page: - Identifier: ISSN: 2050-084X