ArticleNature communications2020
Nucleosome positioning stability is a modulator of germline mutation rate variation across the human genome.
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 30 papers.
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Who cites it
30 citing papers in PubMed, 49 citations in OpenAlex.
- Effect of methylation on genome mutability in cattle.Genetics, selection, evolution : GSE · 2026Article
- Subtle-seq reveals frequent ageing-associated chromosome fragmentation on nucleosome core DNA.Nucleic acids research · 2026Article
- Screening of microhaplotypes for paternity testing from low-recombination regions in the human genome.BMC genomics · 2026Article
- Advances in epigenetic therapy for esophageal cancer.Clinical epigenetics · 2026Review
- Transcription start sites experience a high influx of heritable variants fueled by early development.Nature communications · 2025Article
- Chromatin unfolding via loops can drive clustered transposon insertion.Biophysical journal · 2025Article
- Convergent Evolution and the Epigenome.Epigenomes · 2025Review
- Linear covariation between germline and somatic mutation rates across ciliates and mammals.Current biology : CB · 2025Article
- Circulating Cell-free DNA Fragmentomics Detection and Beyond.Aging and disease · 2025Review
- Adenovirus small E1A directs activation of Alu transcription at YAP/TEAD- and AP-1-bound enhancers through interactions with the EP400 chromatin remodeler.Nucleic acids research · 2024Article
- Article
- Genomic profiling of six human somatic histone H1 variants denotes that H1X accumulates at recently incorporated transposable elements.Nucleic acids research · 2024Article
- Heritable epigenetic variation facilitates long-term maintenance of epigenetic and genetic variation.G3 (Bethesda, Md.) · 2024Article
- The divergence of mutation rates and spectra across the Tree of Life.EMBO reports · 2023Review
- Bisulfite probing reveals DNA structural intricacies.Nucleic acids research · 2023Article
- Chromatin structure influences rate and spectrum of spontaneous mutations inGenome research · 2023Article
- B1 SINE-binding ZFP266 impedes mouse iPSC generation through suppression of chromatin opening mediated by reprogramming factors.Nature communications · 2023Article
- Is the Mutation Rate Lower in Genomic Regions of Stronger Selective Constraints?Molecular biology and evolution · 2022Article
- A study of strong nucleosomes in the human genome.iScience · 2022Article
- NucPosDB: a database of nucleosome positioning in vivo and nucleosomics of cell-free DNA.Chromosoma · 2022Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 3 countries.
Funding
Abstract
Nucleosome organization has been suggested to affect local mutation rates in the genome. However, the lack of de novo mutation and high-resolution nucleosome data has limited the investigation of this hypothesis. Additionally, analyses using indirect mutation rate measurements have yielded contradictory and potentially confounding results. Here, we combine data on >300,000 human de novo mutations with high-resolution nucleosome maps and find substantially elevated mutation rates around translationally stable ('strong') nucleosomes. We show that the mutational mechanisms affected by strong nucleosomes are low-fidelity replication, insufficient mismatch repair and increased double-strand breaks. Strong nucleosomes preferentially locate within young SINE/LINE transposons, suggesting that when subject to increased mutation rates, transposons are then more rapidly inactivated. Depletion of strong nucleosomes in older transposons suggests frequent positioning changes during evolution. The findings have important implications for human genetics and genome evolution.
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