Cited by 33Pleistocene-Era Hominins and ArchaeologyForensic and Genetic ResearchGenetic diversity and population structure

Different historical generation intervals in human populations inferred from Neanderthal fragment lengths and mutation signatures

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Coll Macià, Moisès, Skov, Laurits, Peter, Benjamin Marco, Schierup, Mikkel Heide·2021·Nature Communications

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Abstract

After the main Out-of-Africa event, humans interbred with Neanderthals leaving 1–2% of Neanderthal DNA scattered in small fragments in all non-African genomes today. Here we investigate what can be learned about human demographic processes from the size distribution of these fragments. We observe differences in fragment length across Eurasia with 12% longer fragments in East Asians than West Eurasians. Comparisons between extant populations with ancient samples show that these differences are caused by different rates of decay in length by recombination since the Neanderthal admixture. In concordance, we observe a strong correlation between the average fragment length and the mutation accumulation, similar to what is expected by changing the ages at reproduction as estimated from trio studies. Altogether, our results suggest differences in the generation interval across Eurasia, by up 10–20%, over the past 40,000 years. We use sex-specific mutation signatures to infer whether these changes were driven by shifts in either male or female age at reproduction, or both. We also find that previously reported variation in the mutational spectrum may be largely explained by changes to the generation interval. We conclude that Neanderthal fragment lengths provide unique insight into differences among human populations over recent history.

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  • The model does not exclude the possibility that differences in population sizes or generation time between eastern and western Asia may also have played a role in shaping Neanderthal ancestry patterns.

    “This model does not exclude the possibility that differences in population sizes (15) or in generation time (53) between eastern and western Asia may also have played a role in shaping NE ancestry patterns, but a modeling study focusing on these aspects would be”

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Cited by

Sorted by citations

Authors
Coll Macià, M., Skov, L., Peter, B. M., & Schierup, M. H.
Affiliations
  • Max Planck Institute for Evolutionary Anthropology (DE)
  • Aarhus University (DK)
Corresponding author
Schierup, Mikkel Heide
Venue
Nature Communications
Published
2021-09-07
Volume
12
Issue
1
Pages
5317-5317
ISSN
2041-1723 (ISSN-L)
OpenAlex
W3198827456
Cited by
33
References
14
Citations by year
2026: 3 · 2025: 3 · 2024: 6 · 2023: 11 · 2022: 6 · 2021: 4
FWCI
26.64
Type
journal article
Language
en
Open access
Locations
  • Nature Communications (publishedVersion, cc-by)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, other-oa)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • RePEc: Research Papers in Economics (submittedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • Novo Nordisk Fonden (NNF18OC0031004)
  • Det Frie Forskningsråd (6108-00385)
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 › Genetic diversity and population structure
Keywords
Neanderthal admixture, fragment size distribution, generation interval, age at reproduction, mutation spectrum, recombination, human demographic history, ancient DNA
MeSH terms
DNA, Ancient, Animals, Asia, Crosses, Genetic, Europe, Female, Humans, Male, Mutation, Polymorphism, Restriction Fragment Length, Genome, Human, History, 21st Century, History, Ancient, Gene Flow, Neanderthals

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