ArticleGenetics2017
Contrasting Determinants of Mutation Rates in Germline and Soma.
Article in Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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.
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Who cites it
24 citing papers in PubMed, 36 citations in OpenAlex.
- Article
- Metabolic disease variants rewire gene regulation through disruption of DNA G-quadruplex structures.Genome biology · 2026Article
- Sequence context and methylation interact to shape germline mutation rate variation at CpG sites.PLoS genetics · 2026Article
- Sequence context and methylation interact to shape germline mutation rate variation at CpG sites.bioRxiv : the preprint server for biology · 2026Article
- Modest increase in the de novo single-nucleotide mutation rate in house mice born by assisted reproduction.Genome research · 2026Article
- Transcription start sites experience a high influx of heritable variants fueled by early development.Nature communications · 2025Article
- Linear covariation between germline and somatic mutation rates across ciliates and mammals.Current biology : CB · 2025Article
- Sex differences in transcription-associated mutagenesis in the human germline.bioRxiv : the preprint server for biology · 2025Article
- Increased rate ofbioRxiv : the preprint server for biology · 2025Article
- The clinical utility and prognostic value of next-generation sequencing for measurable residual disease assessment in acute myeloid leukemia.Therapeutic advances in hematology · 2025Article
- The Evolutionary Interplay of Somatic and Germline Mutation Rates.Annual review of biomedical data science · 2024Review
- Cell-type specificity of the human mutation landscape with respect to DNA replication dynamics.Cell genomics · 2023Article
- The landscape of somatic mutations in lymphoblastoid cell lines.Cell genomics · 2023Article
- Evolutionary Implications of Environmental Toxicant Exposure.Biomedicines · 2022Review
- How Sequence Context-Dependent Mutability Drives Mutation Rate Variation in the Genome.Genome biology and evolution · 2022Article
- Article
- Meiosis and beyond - understanding the mechanistic and evolutionary processes shaping the germline genome.Biological reviews of the Cambridge Philosophical Society · 2021Review
- The Impact of DNA Methylation Dynamics on the Mutation Rate During Human Germline Development.G3 (Bethesda, Md.) · 2020Article
- Cytosine Methylation Affects the Mutability of Neighboring Nucleotides in Germline and Soma.Genetics · 2020Article
- Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Recent studies of somatic and germline mutations have led to the identification of a number of factors that influence point mutation rates, including CpG methylation, expression levels, replication timing, and GC content. Intriguingly, some of the effects appear to differ between soma and germline: in particular, whereas mutation rates have been reported to decrease with expression levels in tumors, no clear effect has been detected in the germline. Distinct approaches were taken to analyze the data, however, so it is hard to know whether these apparent differences are real. To enable a cleaner comparison, we considered a statistical model in which the mutation rate of a coding region is predicted by GC content, expression levels, replication timing, and two histone repressive marks. We applied this model to both a set of germline mutations identified in exomes and to exonic somatic mutations in four types of tumors. Most determinants of mutations are shared: notably, we detected an effect of expression levels on both germline and somatic mutation rates. Moreover, in all tissues considered, higher expression levels are associated with greater strand asymmetry of mutations. However, mutation rates increase with expression levels in testis (and, more tentatively, in ovary), whereas they decrease with expression levels in somatic tissues. This contrast points to differences in damage or repair rates during transcription in soma and germline.
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Registered trials
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.