ArticleNature communications2018
High prevalence of focal and multi-focal somatic genetic variants in the human brain.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- Clonal hematopoiesis is associated with protection from Alzheimer's disease.Nature medicine · 2023Pooled it
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
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- TET2 in epigenetic control of immune cells: Implications for inflammatory responses and age-related pathologies.The Journal of biological chemistry · 2026Review
- Accurate detection of somatic single-nucleotide variants from bulk RNA-seq data using RNA-MosaicHunter.Nucleic acids research · 2026Article
- Early death and neuronal abnormalities inbioRxiv : the preprint server for biology · 2025Article
- Probability and Neurodegeneration: Alzheimer's Disease and Huntington's Disease.Brain sciences · 2025Article
- A reciprocal relationship between markers of genomic DNA damage and alpha-synuclein pathology in dementia with Lewy bodies.Molecular neurodegeneration · 2025Article
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- Origin and cell type specificity of mitochondrial DNA mutations inScience advances · 2025Article
- The genetic landscape of early-onset Alzheimer's disease in China.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Parkinson's disease is associated with clonal hematopoiesis with TET2 mutation.NPJ Parkinson's disease · 2024Article
- A microglia clonal inflammatory disorder in Alzheimer's Disease.bioRxiv : the preprint server for biology · 2024Article
- Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.Acta neuropathologica · 2024Article
- Neuropathologically-directed profiling ofbioRxiv : the preprint server for biology · 2024Article
- Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia.bioRxiv : the preprint server for biology · 2024Article
- Transcriptional mutagenesis of α-synuclein caused by DNA oxidation in Parkinson's disease pathogenesis.Acta neuropathologica · 2023Article
- High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.Neurology. Genetics · 2023Article
- Molecular and clinical aspects relevant for counseling individuals with clonal hematopoiesis of indeterminate potential.Frontiers in oncology · 2023Review
- Very large hidden genetic diversity in one single tumor: evidence for tumors-in-tumor.National science review · 2022Article
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18 authors at 6 institutions in 2 countries.
Funding
Abstract
Somatic mutations during stem cell division are responsible for several cancers. In principle, a similar process could occur during the intense cell proliferation accompanying human brain development, leading to the accumulation of regionally distributed foci of mutations. Using dual platform >5000-fold depth sequencing of 102 genes in 173 adult human brain samples, we detect and validate somatic mutations in 27 of 54 brains. Using a mathematical model of neurodevelopment and approximate Bayesian inference, we predict that macroscopic islands of pathologically mutated neurons are likely to be common in the general population. The detected mutation spectrum also includes DNMT3A and TET2 which are likely to have originated from blood cell lineages. Together, these findings establish developmental mutagenesis as a potential mechanism for neurodegenerative disorders, and provide a novel mechanism for the regional onset and focal pathology in sporadic cases.
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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.