ArticleScience (New York, N.Y.)2023
Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line.
Article in Science (New York, N.Y.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
44 citing papers in PubMed, 54 citations in OpenAlex.
- Inferring the Landscapes of Mutation and Recombination in the Common Marmoset (Callithrix jacchus) in the Presence of Twinning and Hematopoietic Chimerism.American journal of primatology · 2026Article
- Mapping Meiotic Recombination DNA Double-Strand Breaks (DSBs) Hotspots -Methodological Advances and Challenges.Advanced genetics (Hoboken, N.J.) · 2026Article
- Article
- MRE11 suppresses germline mutagenesis at meiotic double-strand breaks in mice.Genes & development · 2026Article
- Polymorphism can extensively reshape the genome-wide crossover landscape in Arabidopsis thaliana.Nature communications · 2026Article
- The Effect of Age and Sex on the Rate of Germline Mutations in Barn Owls.Genome biology and evolution · 2026Article
- Identification of a master regulator Msd1 that governs meiotic entry in a global basidiomycete pathogen.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Break-induced replication forms long mutable single-strand DNA during meiosis.Nature communications · 2026Article
- Adaptive Spo11 RNA editing gate optimizes meiosis I pace and mitotic proliferation while preserving ascospore formation.Science advances · 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
- A sibling study of variation in parental mutation rates.bioRxiv : the preprint server for biology · 2026Article
- Why recombination hotspots?PLoS genetics · 2026Review
- Meiotic double-strand DNA breaks and spontaneous mutation in Drosophila melanogaster.G3 (Bethesda, Md.) · 2026Article
- Article
- MRE11 suppresses germline mutagenesis at meiotic double-strand breaks in mice.bioRxiv : the preprint server for biology · 2026Article
- Machine learning-based prediction of human structural variation and characterization of associated sequence determinants.bioRxiv : the preprint server for biology · 2026Article
- Population-wide single-pollen nuclei genotyping in rye sheds light on the genetic basis and environmental plasticity of meiotic recombination.The New phytologist · 2026Article
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- Interrogating the Regulatory Function of HAQERs during Human Cortical Development.bioRxiv : the preprint server for biology · 2025Article
- Transcription start sites experience a high influx of heritable variants fueled by early development.Nature communications · 2025Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Meiotic recombination commences with hundreds of programmed DNA breaks; however, the degree to which they are accurately repaired remains poorly understood. We report that meiotic break repair is eightfold more mutagenic for single-base substitutions than was previously understood, leading to de novo mutation in one in four sperm and one in 12 eggs. Its impact on indels and structural variants is even higher, with 100- to 1300-fold increases in rates per break. We uncovered new mutational signatures and footprints relative to break sites, which implicate unexpected biochemical processes and error-prone DNA repair mechanisms, including translesion synthesis and end joining in meiotic break repair. We provide evidence that these mechanisms drive mutagenesis in human germ lines and lead to disruption of hundreds of genes genome wide.
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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.