ArticleNature communications2022
Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
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- A transposase-derived gene required for human brain development.Science advances · 2026Article
- Advances in single-cell DNA sequencing enable insights into human somatic mosaicism.Nature reviews. Genetics · 2025Review
- Diploid donor-specific assembly enhances somatic structural variant detection in cancer genomes.bioRxiv : the preprint server for biology · 2025Article
- Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Molecular neurodegeneration · 2025Review
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- The Somatic Mosaicism across Human Tissues Network.Nature · 2025Review
- Mechanism of cytarabine-induced neurotoxicity.Nature · 2025Article
- GDBr: genomic signature interpretation tool for DNA double-strand break repair mechanisms.Nucleic acids research · 2025Article
- Astrocytes in aging.Neuron · 2025Review
- Using in vivo intact structure for system-wide quantitative analysis of changes in proteins.Nature communications · 2024Article
- Tau beyond Tangles: DNA Damage Response and Cytoskeletal Protein Crosstalk on Neurodegeneration.International journal of molecular sciences · 2024Review
- Brain injury drives optic glioma formation through neuron-glia signaling.Acta neuropathologica communications · 2024Article
- High-quality nuclei isolation from postmortem human heart muscle tissues for single-cell studies.Journal of molecular and cellular cardiology · 2023Article
- High-Quality Nuclei Isolation from Postmortem Human Heart Muscle Tissues for Single-Cell Studies.bioRxiv : the preprint server for biology · 2023Article
- Premature aging in genetic diseases: what conclusions can be drawn for physiological aging.Frontiers in aging · 2023Review
- Identification and validation of biomarkers based on cellular senescence in mild cognitive impairment.Frontiers in aging neuroscience · 2023Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
Replication errors and various genotoxins cause DNA double-strand breaks (DSBs) where error-prone repair creates genomic mutations, most frequently focal deletions, and defective repair may lead to neurodegeneration. Despite its pathophysiological importance, the extent to which faulty DSB repair alters the genome, and the mechanisms by which mutations arise, have not been systematically examined reflecting ineffective methods. Here, we develop PhaseDel, a computational method to detect focal deletions and characterize underlying mechanisms in single-cell whole genome sequences (scWGS). We analyzed high-coverage scWGS of 107 single neurons from 18 neurotypical individuals of various ages, and found that somatic deletions increased with age and in highly expressed genes in human brain. Our analysis of 50 single neurons from DNA repair-deficient diseases with progressive neurodegeneration (Cockayne syndrome, Xeroderma pigmentosum, and Ataxia telangiectasia) reveals elevated somatic deletions compared to age-matched controls. Distinctive mechanistic signatures and transcriptional associations suggest roles for somatic deletions in neurodegeneration.
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