ArticleScientific reports2023
Mutational signatures association with replication timing in normal cells reveals similarities and differences with matched cancer tissues.
Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Motif-centered analyses reveal universal and tissue-specific mutagenic mechanisms operating in the human body.NAR cancer · 2026Article
- Motif-Centered Analyses Reveal Universal and Tissue-Specific Mutagenic Mechanisms Operating in the Human Body.bioRxiv : the preprint server for biology · 2026Article
- 8-Oxoguanine: A Lesion, an Epigenetic Mark, or a Molecular Signal?International journal of molecular sciences · 2025Review
- Joint inference of mutational signatures from indels and single-nucleotide substitutions reveals prognostic impact of DNA repair deficiencies.Genome medicine · 2025Article
- Neuronal somatic mutations are increased in multiple sclerosis lesions.Nature neuroscience · 2025Article
- Polyguanine microsatellites are robust replication clocks in cancer.Nature genetics · 2025Article
- Quantifying cell divisions along evolutionary lineages in cancer.Nature genetics · 2025Article
- Landscape of human protein-coding somatic mutations across tissues and individuals.bioRxiv : the preprint server for biology · 2025Article
- Reconstructing developmental lineages: a retrospective approach using somatic mutations and variant allele frequency.Frontiers in genetics · 2025Review
- Replication timing alterations are associated with mutation acquisition during breast and lung cancer evolution.Nature communications · 2024Article
- Isocitrate Dehydrogenase Mutations in Cancer: Mechanisms of Transformation and Metabolic Liability.Cold Spring Harbor perspectives in medicine · 2024Review
- Review
- ssMutPA: single-sample mutation-based pathway analysis approach for cancer precision medicine.GigaScience · 2024Article
- Both cell autonomous and non-autonomous processes modulate the association between replication timing and mutation rate.Scientific reports · 2023Article
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutational signatures' association with replication timing (RT) has been studied in cancer samples, but the RT distribution of somatic mutations in non-cancerous cells was only minimally explored. Here, we performed comprehensive analyses of mutational signatures in 2.9 million somatic mutations across multiple non-cancerous tissues, stratified by early and late RT regions. We found that many mutational processes are active mainly or solely in early RT, such as SBS16 in hepatocytes and SBS88 in the colon, or in late RT, such as SBS4 in lung and hepatocytes, and SBS18 across many tissues. The two ubiquitous signatures, SBS1 and SBS5, showed late and early bias, respectively, across multiple tissues and in mutations representing germ cells. We also performed a direct comparison with cancer samples in 4 matched tissue-cancer types. Unexpectedly, while for most signatures the RT bias was consistent in normal tissue and in cancer, we found that SBS1's late RT bias is lost in cancer.
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