ArticlePhilosophical transactions of the Royal Society of London. Series B, Biological sciences2016
Mutation rates and the evolution of germline structure.
Article in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- Research progress on the role and mechanism of DNA damage repair in germ cell development.Frontiers in endocrinology · 2023Pooled it
- Landscape of parental postzygotic mutations across >11,000 rare disease trios.American journal of human genetics · 2026Article
- Population size interacts with reproductive longevity to shape the germline mutation rate.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Characterizing the Rates and Patterns of De Novo Germline Mutations in the Aye-Aye (Daubentonia madagascariensis).Molecular biology and evolution · 2025Article
- Characterizing the rates and patterns ofbioRxiv : the preprint server for biology · 2024Article
- Population size interacts with reproductive longevity to shape the germline mutation rate.bioRxiv : the preprint server for biology · 2024Article
- Germline mutation rate is elevated in young and old parents inEvolution letters · 2023Article
- The 'faulty male' hypothesis for sex-biased mutation and disease.Current biology : CB · 2023Review
- Predicting the number of lifetime divisions for hematopoietic stem cells from telomere length measurements.iScience · 2023Article
- Initial heritable genome editing: mapping a responsible pathway from basic research to the clinic.Medicine, health care, and philosophy · 2023Article
- Examining the Effects of Hibernation on Germline Mutation Rates in Grizzly Bears.Genome biology and evolution · 2022Article
- De novo Mutations in Domestic Cat are Consistent with an Effect of Reproductive Longevity on Both the Rate and Spectrum of Mutations.Molecular biology and evolution · 2022Article
- Telomeres, aging, and cancer: the big picture.Blood · 2022Article
- Review
- Article
- The germline mutational process in rhesus macaque and its implications for phylogenetic dating.GigaScience · 2021Article
- Mitotic gene conversion can be as important as meiotic conversion in driving genetic variability in plants and other species without early germline segregation.PLoS biology · 2021Article
- Differences between germline genomes of monozygotic twins.Nature genetics · 2021Article
- A comparison of humans and baboons suggests germline mutation rates do not track cell divisions.PLoS biology · 2020Article
- Paternal age in rhesus macaques is positively associated with germline mutation accumulation but not with measures of offspring sociability.Genome research · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 2 countries.
Funding
Abstract
Genome sequencing studies of de novo mutations in humans have revealed surprising incongruities in our understanding of human germline mutation. In particular, the mutation rate observed in modern humans is substantially lower than that estimated from calibration against the fossil record, and the paternal age effect in mutations transmitted to offspring is much weaker than expected from our long-standing model of spermatogenesis. I consider possible explanations for these discrepancies, including evolutionary changes in life-history parameters such as generation time and the age of puberty, a possible contribution from undetected post-zygotic mutations early in embryo development, and changes in cellular mutation processes at different stages of the germline. I suggest a revised model of stem-cell state transitions during spermatogenesis, in which 'dark' gonial stem cells play a more active role than hitherto envisaged, with a long cycle time undetected in experimental observations. More generally, I argue that the mutation rate and its evolution depend intimately on the structure of the germline in humans and other primates.This article is part of the themed issue 'Dating species divergences using rocks and clocks'.
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Registered trials
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