ArticleProceedings of the National Academy of Sciences of the United States of America2026
Methylation-associated mutagenesis underlies variation in the mutation spectrum across eukaryotes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- What sets the mutation rate of a cell type in an animal species?PLoS biology · 2026Article
- Methylation-associated mutagenesis underlies variation in the mutation spectrum across eukaryotes.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- What sets the mutation rate of a cell type in an animal species?bioRxiv : the preprint server for biology · 2025Article
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4 authors.
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Abstract
Mutation spectra vary across genetic and environmental contexts, leading to differences between and within species. Most research on mutation spectrum has focused on trinucleotide (3-mer) mutation types in mammals, limiting the breadth and depth of variation surveyed. In this study, we use whole-genome resequencing data across 108 eukaryotic species-including mammals, fish, plants, and invertebrates-to characterize pentanucleotide (5-mer) noncoding mutation spectra using a Bayesian approach. Our findings reveal cytosine transition mutability at CpG sites and other sources of variation in the transition/transversion ratio as the main drivers of variation in mutation spectra across eukaryotes. We find that inferred CpG mutation rates almost perfectly predict genomic CpG depletion but are not predicted by genome-wide average CpG methylation levels. Together, our results illustrate the pivotal role of mutagenesis in shaping genome composition across eukaryotes and highlight a gap in knowledge about the mechanisms governing mutation rates.
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