The Joint Impact of Deleterious Mutations, Dominance, and Gene Flow on Linked Neutral Variation in Structured Populations
- 1CE3C - Centre for Ecology, Evolution and Environmental Changes
Abstract
Most species are geographically structured, which leaves characteristic signatures in neutral genomic regions used to reconstruct demographic history. Yet, these signatures can be distorted by linked selection due to deleterious mutations. This can reduce genetic diversity through Background Selection, or increase diversity through Associative Overdominance. While their effects are well characterized in panmictic populations, they remain largely unexplored in structured populations. We investigated an Isolation-with-Migration model using simulations across a range of migration, selection, dominance, and recombination parameters. We quantified the effects of deleterious mutations on standard summary statistics by simulating either genotypes at neutral and deleterious mutations (genotype-based approach) or genealogies and deleterious mutations (Ancestral Recombination Graph-based approach). The latter recovered similar patterns, directly relating genomic patterns to underlying coalescent processes. For lower recombination rates, we found a Background Selection-driven regime for weakly codominant mutations, characterized by lower diversity and increased genetic differentiation. For recessive mutations, we identified an Associative Overdominance-driven regime, characterized by increased diversity and lower genetic differentiation. This is reflected in the genealogies: Background Selection shrunk coalescence times and led to lineage sorting topologies, while Associative Overdominance stretched coalescence times and led to incomplete lineage-sorting topologies. Migration strongly affected genetic differentiation and topology frequencies but had weaker effects on diversity and coalescence times. Our results provide evidence of a transition from Associative Overdominance to Background Selection for recessive deleterious mutations in an isolation-with-migration model. Importantly, these processes leave distinct signatures on genealogies, highlighting that Ancestral Recombination Graph-based approaches have the potential for inferring linked-selection in structured populations.
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BibTeX
@misc{lesturgie2026joint,
title = {{The Joint Impact of Deleterious Mutations, Dominance, and Gene Flow on Linked Neutral Variation in Structured Populations}},
author = {P. Lesturgie and A. Blanckaert and V. C. Sousa},
howpublished = {bioRxiv},
year = {2026},
month = may,
doi = {10.64898/2026.05.15.724312},
url = {https://www.biorxiv.org/content/10.64898/2026.05.15.724312v2},
note = {CC BY-ND},
}
RIS
TY - UNPB
TI - The Joint Impact of Deleterious Mutations, Dominance, and Gene Flow on Linked Neutral Variation in Structured Populations
AU - P. Lesturgie
AU - A. Blanckaert
AU - V. C. Sousa
PY - 2026
DA - 2026/05/15
PB - bioRxiv
DO - 10.64898/2026.05.15.724312
UR - https://www.biorxiv.org/content/10.64898/2026.05.15.724312v2
AB - Most species are geographically structured, which leaves characteristic signatures in neutral genomic regions used to reconstruct demographic history. Yet, these signatures can be distorted by linked selection due to deleterious mutations. This can reduce genetic diversity through Background Selection, or increase diversity through Associative Overdominance. While their effects are well characterized in panmictic populations, they remain largely unexplored in structured populations. We investigated an Isolation-with-Migration model using simulations across a range of migration, selection, dominance, and recombination parameters. We quantified the effects of deleterious mutations on standard summary statistics by simulating either genotypes at neutral and deleterious mutations (genotype-based approach) or genealogies and deleterious mutations (Ancestral Recombination Graph-based approach). The latter recovered similar patterns, directly relating genomic patterns to underlying coalescent processes. For lower recombination rates, we found a Background Selection-driven regime for weakly codominant mutations, characterized by lower diversity and increased genetic differentiation. For recessive mutations, we identified an Associative Overdominance-driven regime, characterized by increased diversity and lower genetic differentiation. This is reflected in the genealogies: Background Selection shrunk coalescence times and led to lineage sorting topologies, while Associative Overdominance stretched coalescence times and led to incomplete lineage-sorting topologies. Migration strongly affected genetic differentiation and topology frequencies but had weaker effects on diversity and coalescence times. Our results provide evidence of a transition from Associative Overdominance to Background Selection for recessive deleterious mutations in an isolation-with-migration model. Importantly, these processes leave distinct signatures on genealogies, highlighting that Ancestral Recombination Graph-based approaches have the potential for inferring linked-selection in structured populations.
ER -