ArticleNature genetics2018
Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence.
Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.Human genomics · 2024Pooled it
- Large-scale whole-genome sequencing reveals the landscape and health implications of de novo mutations.Nature medicine · 2026Article
- Unraveling the lexicon of complex mutational phenomena in human cancers.Nature cancer · 2026Review
- The Effect of Age and Sex on the Rate of Germline Mutations in Barn Owls.Genome biology and evolution · 2026Article
- Break-induced replication forms long mutable single-strand DNA during meiosis.Nature communications · 2026Article
- Diagnoses of double heterozygous NF1 variants and dual RASopathy.Molecular and cellular pediatrics · 2026Review
- Transcription start sites experience a high influx of heritable variants fueled by early development.Nature communications · 2025Article
- Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans.Scientific reports · 2025Article
- Sequence diversity lost in early pregnancy.Nature · 2025Article
- Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.PLoS genetics · 2025Article
- Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria.The Journal of allergy and clinical immunology · 2025Article
- Complete human recombination maps.Nature · 2025Article
- Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses.Scientific reports · 2024Article
- Exploring the Role of Clustered Mutations in Carcinogenesis and Their Potential Clinical Implications in Cancer.International journal of molecular sciences · 2024Review
- Article
- A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription.Nature genetics · 2023Article
- Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.Human genomics · 2023Article
- Evolution of the Mutation Spectrum Across a Mammalian Phylogeny.Molecular biology and evolution · 2023Article
- The rate of de novo structural variation is increased in in vitro-produced offspring and preferentially affects the paternal genome.Genome research · 2023Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clustering of mutations has been observed in cancer genomes as well as for germline de novo mutations (DNMs). We identified 1,796 clustered DNMs (cDNMs) within whole-genome-sequencing data from 1,291 parent-offspring trios to investigate their patterns and infer a mutational mechanism. We found that the number of clusters on the maternal allele was positively correlated with maternal age and that these clusters consisted of more individual mutations with larger intermutational distances than those of paternal clusters. More than 50% of maternal clusters were located on chromosomes 8, 9 and 16, in previously identified regions with accelerated maternal mutation rates. Maternal clusters in these regions showed a distinct mutation signature characterized by C>G transversions. Finally, we found that maternal clusters were associated with processes involving double-strand-breaks (DSBs), such as meiotic gene conversions and de novo deletion events. This result suggested accumulation of DSB-induced mutations throughout oocyte aging as the mechanism underlying the formation of maternal mutation clusters.
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