The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals
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Abstract
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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Other more complex scenarios including a first introgression event from ancestors of modern humans into archaic humans followed by a second archaic introgression event into non-Africans and back to Africa migrations cannot be discarded.
“Similarly, we cannot discard other more complex scenarios including a first introgression event from the ancestors of modern humans into archaic humans followed by a second archaic introgression event into non-Africans and back to Africa migrations, as similarly suggested to explain the finding of Neanderthal introgression sequences in the 1000 GP African populations or the presence of a putative”
From Human genetic adaptation related to cellular zinc homeostasis (2023) · cites this paper as [45]
The Results sections on KNL1 introgression into Neandertals and reintroduction into non-Africans support the proposed two-step gene-flow scenario. Our copy does not connect that scenario to back-to-Africa migration or Neandertal-introgressed sequences in African populations. (LLM, conf=0.85)
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References 65 · Cited by 24
- Authors
- Peyrégne, S., Kelso, J., Peter, B. M., & Pääbo, S.
- Affiliations
- Max Planck Institute for Evolutionary Anthropology (DE)
- Corresponding author
- Peyrégne, Stéphane
- Pääbo, Svante
- Venue
- eLife
- Publisher
- eLife Sciences Publications, Ltd
- Published
- 2022-07-11
- Volume
- 11
- ISSN
- 2050-084X (ISSN-L)
- PMC
- PMC9273211
- OpenAlex
- W4285018310
- Cited by
- 24
- References
- 65
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 8 · 2023: 6 · 2022: 2
- FWCI
- 27.65
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- eLife (publishedVersion, cc-by)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Max Planck Society
- European Research Council (694707)
- NOMIS Foundation
- Topics
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- human evolution, Neanderthals, Denisovans, kinetochore, KNL1, gene flow, positive selection, amino acid substitutions, archaic human admixture, chromosome segregation
- MeSH terms
- Animals, Biological Evolution, Fossils, Humans, Hominidae, Black People, Gene Flow, Neanderthals
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