ArticleNature communications2020
Germline de novo mutation rates on exons versus introns in humans.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Genes shielded, repeats exposed: mutation bias in the midge Chironomus riparius.G3 (Bethesda, Md.) · 2026Article
- Causal inference clarifies the roles of background selection and mutation rate variation in shaping human genetic diversity.bioRxiv : the preprint server for biology · 2026Article
- Transcription start sites experience a high influx of heritable variants fueled by early development.Nature communications · 2025Article
- NoncodingiScience · 2025Article
- Short-Term Evolutionary Features and Circadian Clock-Modulated Gene Expression Analysis ofInsects · 2025Article
- Nonhypermutator Cancers Access Driver Mutations Through Reversals in Germline Mutational Bias.Molecular biology and evolution · 2025Article
- Low Mutation Rate and Atypical Mutation Spectrum in Prasinoderma coloniale: Insights From an Early Diverging Green Lineage.Genome biology and evolution · 2025Article
- Mutational signature analyses in multi-child families reveal sources of age-related increases in human germline mutations.Communications biology · 2024Article
- Characterization and distribution of de novo mutations in the zebra finch.Communications biology · 2024Article
- Germline genome editing of human IVF embryos should not be subject to overly stringent restrictions.Journal of assisted reproduction and genetics · 2024Article
- Elevated incidence of somatic mutations at prevalent genetic sites.Briefings in bioinformatics · 2024Article
- Emergence and influence of sequence bias in evolutionarily malleable, mammalian tandem arrays.BMC biology · 2023Article
- Do Noncoding and Coding Sites in Angiosperm Chloroplast DNA Have Different Mutation Processes?Genes · 2023Article
- Introns: the "dark matter" of the eukaryotic genome.Frontiers in genetics · 2023Review
- Enabling Inference for Context-Dependent Models of Mutation by Bounding the Propagation of Dependency.Journal of computational biology : a journal of computational molecular cell biology · 2022Article
- The impact of genetic modifiers on variation in germline mutation rates within and among human populations.Genetics · 2022Article
- Spontaneous mutation rate estimates for the principal malaria vectors Anopheles coluzzii and Anopheles stephensi.Scientific reports · 2022Article
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A main assumption of molecular population genetics is that genomic mutation rate does not depend on sequence function. Challenging this assumption, a recent study has found a reduction in the mutation rate in exons compared to introns in somatic cells, ascribed to an enhanced exonic mismatch repair system activity. If this reduction happens also in the germline, it can compromise studies of population genomics, including the detection of selection when using introns as proxies for neutrality. Here we compile and analyze published germline de novo mutation data to test if the exonic mutation rate is also reduced in germ cells. After controlling for sampling bias in datasets with diseased probands and extended nucleotide context dependency, we find no reduction in the mutation rate in exons compared to introns in the germline. Therefore, there is no evidence that enhanced exonic mismatch repair activity determines the mutation rate in germline cells.
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