Mutations arising in the wave front of an expanding population
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The ability to infer the time and place of origin of a mutation can be very useful when reconstructing the evolutionary histories of populations and species. We use forward computer simulations of population growth, migration, and mutation in an analysis of an expanding population with a wave front that advances at a constant slow rate. A pronounced founder effect can be observed among mutations arising in this wave front where extreme population bottlenecks arise and are followed by major population growth. A fraction of mutations travel with the wave front and generate mutant populations that are on average much larger than those that remain stationary. Analysis of the diffusion of these mutants makes it possible to reconstruct migratory trajectories during population expansions, thus helping us better understand observed patterns in the evolution of species such as modern humans. Examination of some historical data supports our model.
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As hunter-gatherers spread over Europe, their Neanderthal introgression levels increased because of a combination of stochastic demographic and migratory processes related to gene dilution and gene surfing, which explain the spatial gradients of Neanderthal ancestry observed in hunter-gatherers.
“According to the expansion hypothesis (19), as HGs spread over Europe, their NE introgression levels increased because of a combination of stochastic demographic and migratory processes related to gene dilution (20, 31, 39) and gene surfing (22, 23), which explain the spatial gradients of NE ancestry observed in HGs (Fig. 5).”
From Past human expansions shaped the spatial pattern of Neanderthal ancestry (2023) · cites this paper as [22]
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- Authors
- Edmonds, C. A., Lillie, A. S., & Cavalli-Sforza, L. L.
- Affiliations
- Stanford Medicine (US)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2004-01-19
- Volume
- 101
- Issue
- 4
- Pages
- 975-979
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC327127
- OpenAlex
- W2051334294
- Cited by
- 429
- References
- 12
- Citations by year
- 2026: 6 · 2025: 24 · 2024: 13 · 2023: 19 · 2022: 17 · 2021: 20 · 2020: 15 · 2019: 18 · 2018: 38 · 2017: 21 · 2016: 29 · 2015: 22 · 2014: 22 · 2013: 24 · 2012: 27
- FWCI
- 6.78
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Public Health Service (28428)
- National Institute of General Medical Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- mutation origin, founder effect, population growth, wavefronts, population bottleneck, migration, migratory trajectories, human evolution, population genetics, forward modeling
- MeSH terms
- Biological Evolution, Mutation
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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