Cited by 429Forensic and Genetic ResearchEvolution and Genetic DynamicsGenetic diversity and population structure

Mutations arising in the wave front of an expanding population

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Edmonds, Christopher A., Lillie, Anita S., Cavalli-Sforza, L. Luca·2004·Proceedings of the National Academy of Sciences

Abstract

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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Research works printed but not linked: 9

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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
Published
2004-01-19
Volume
101
Issue
4
Pages
975-979
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
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
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

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