Population size interacts with reproductive longevity to shape the germline mutation rate

Mutation rates vary across the tree of life by many orders of magnitude, with fewer mutations occurring each generation in species that reproduce quickly and maintain large effective population sizes. A compelling explanation is that large effective population sizes facilitate selection against weakly deleterious "mutator alleles" such as variants that modulate cell division or interfere with the molecular efficacy of DNA repair. However, while the fidelity of a single cell division largely determines microorganisms' mutation rates, the relationship of the mutation rate to the molecular determinants of DNA damage and repair is more complex in multicellular species with long generation times. Since long generations leave more time for mutations to accrue each generation, we posit that a long generation time likely amplifies the fitness consequences of any damage agent or DNA repair defect that creates extra mutations in the spermatogonia or oocytes. This leads to the counterintuitive prediction that the species with the highest germline mutation rates per generation are also the species with most effective mechanisms for avoiding and repairing mutations in their reproductive cells. Consistent with this, we show that mutation rates in the reproductive cells are inversely correlated with generation time; in contrast, the number of germline mutations that occur during prepuberty development trends weakly upward as generation time increases. Our results parallel recent findings that the longest-lived species have the lowest mutation rates in adult somatic tissues, potentially due to selection to keep the lifetime mutation load below a harmful threshold.

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Publication Details

Journal
Proceedings of the National Academy of Sciences
Published
2025-05-20
DOI
https://doi.org/10.1073/pnas.2423311122
Citations
10
Primary Topic
Evolution and Genetic Dynamics
Type
article
Field-Weighted Citation Impact
18.17

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article

Population size interacts with reproductive longevity to shape the germline mutation rate

Kelley Harris, Annabel C. Beichman, Luke Zhu
10 citations
Proceedings of the National Academy of Sciences
Evolution and Genetic Dynamics
18.17
article

Population size interacts with reproductive longevity to shape the germline mutation rate

Kelley Harris, Annabel C. Beichman, Luke Zhu
article en
10 citations

Abstract

Mutation rates vary across the tree of life by many orders of magnitude, with fewer mutations occurring each generation in species that reproduce quickly and maintain large effective population sizes. A compelling explanation is that large effective population sizes facilitate selection against weakly deleterious "mutator alleles" such as variants that modulate cell division or interfere with the molecular efficacy of DNA repair. However, while the fidelity of a single cell division largely determines microorganisms' mutation rates, the relationship of the mutation rate to the molecular determinants of DNA damage and repair is more complex in multicellular species with long generation times. Since long generations leave more time for mutations to accrue each generation, we posit that a long generation time likely amplifies the fitness consequences of any damage agent or DNA repair defect that creates extra mutations in the spermatogonia or oocytes. This leads to the counterintuitive prediction that the species with the highest germline mutation rates per generation are also the species with most effective mechanisms for avoiding and repairing mutations in their reproductive cells. Consistent with this, we show that mutation rates in the reproductive cells are inversely correlated with generation time; in contrast, the number of germline mutations that occur during prepuberty development trends weakly upward as generation time increases. Our results parallel recent findings that the longest-lived species have the lowest mutation rates in adult somatic tissues, potentially due to selection to keep the lifetime mutation load below a harmful threshold.

Proceedings of the National Academy of SciencesVol. 122(21)
Cape Town HVTN Immunology Laboratory / Hutchinson Centre Research Institute of South Africa (ZA), University of Washington (US), Fred Hutch Cancer Center (US)
Burroughs Wellcome Fund, Pew Charitable Trusts, Allen Foundation, National Institutes of Health, National Institute on Aging, National Institute of General Medical Sciences
Life in Land
Openalex Percentile: Top 1%
Evolution and Genetic Dynamics
18.17
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