ArticleGenetics2022
Intrinsic base substitution patterns in diverse species reveal links to cancer and metabolism.
Article in Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- The Yeast Metabolic Cycle as a Tractable Cellular Framework for Redox Timing, Redox Buffering, and Transcriptome Fidelity.Antioxidants (Basel, Switzerland) · 2026Article
- What sets the mutation rate of a cell type in an animal species?PLoS biology · 2026Article
- What sets the mutation rate of a cell type in an animal species?bioRxiv : the preprint server for biology · 2025Article
- Germline mutation rates and fine-scale recombination parameters in zebra finch.PLoS genetics · 2025Article
- Mutation and recombination parameters in zebra finch are similar to those in mammals.bioRxiv : the preprint server for biology · 2025Article
- The clock-like accumulation of germline and somatic mutations can arise from the interplay of DNA damage and repair.PLoS biology · 2024Article
- Mutational profile of the regenerative process and de novo genome assembly of the planarian Schmidtea polychroa.Nucleic acids research · 2024Article
- Disentangling sources of clock-like mutations in germline and soma.bioRxiv : the preprint server for biology · 2023Article
- Analyses of mutational patterns induced by formaldehyde and acetaldehyde reveal similarity to a common mutational signature.G3 (Bethesda, Md.) · 2022Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Analyses of large-scale cancer sequencing data have revealed that mutagenic processes can create distinctive patterns of base substitutions, called mutational signatures. Interestingly, mutational patterns resembling some of these signatures can also be observed in normal cells. To determine whether similar patterns exist more generally, we analyzed large data sets of genetic variation, including mutations from 7 model species and single nucleotide polymorphisms in 42 species, totaling >1.9 billion variants. We found that base substitution patterns for most species closely match single base substitution (SBS) mutational signature 5 in the Catalog of Somatic Mutations in Cancer (COSMIC) database. SBS5 is ubiquitous in cancers and also present in normal human cells, suggesting that similar patterns of genetic variation across so many species are likely due to conserved biochemistry. We investigated the mechanistic origins of the SBS5-like mutational pattern in Saccharomyces cerevisiae, and show that translesion DNA synthesis and sugar metabolism are directly linked to this form of mutagenesis. We propose that conserved metabolic processes in cells are coupled to continuous generation of genetic variants, which can be acted upon by selection to drive the evolution of biological entities.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.