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Somatic mutation in single human neurons tracks developmental and transcriptional history
Open accessAbstract
Individualized neuronal mutations in the human brain: The neurons of the human brain can last for decades, carrying out computational and signaling functions. Lodato et al. analyzed the DNA of individual neurons sampled from postmortem human brains and found that individual neurons acquired somatic mutations (see the Perspective by Linnarsson). The mechanism of mutation involved gene transcription rather than DNA replication. Thus, postmitotic neurons would seem to be their own worst enemy: Genes used for neuronal function are the very genes put most at risk of somatic mutation. Science , this issue p. 94 ; see also p. 37
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Metadata
- Authors
- Lodato, M. A., Woodworth, M. B., Lee, S., Evrony, G. D., Mehta, B. K., Karger, A., Lee, S., Chittenden, T. W., D’Gama, A. M., Cai, X., Luquette, L. J., Lee, E., Park, P. J., & Walsh, C. A.
- Affiliations
- Broad Institute (US)
- Harvard University (US)
- Brigham and Women's Hospital (US)
- Corresponding author
- Lodato, Michael A.
- Woodworth, Mollie B.
- Lee, Semin
- Park, Peter J.
- Walsh, Christopher A.
- ORCID
- Venue
- Science
- Published
- 2015-10-02
- Volume
- 350
- Issue
- 6256
- Pages
- 94-98
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC4664477
- OpenAlex
- W2218943248
- Cited by
- 570
- References
- 55
- Citations by year
- 2026: 34 · 2025: 37 · 2024: 31 · 2023: 35 · 2022: 48 · 2021: 79 · 2020: 63 · 2019: 56 · 2018: 68 · 2017: 64 · 2016: 47 · 2015: 7
- FWCI
- 27.08
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Scholarworks@UNIST (Ulsan National Institute of Science and Technology) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institute of Mental Health (P50 MH106933)
- National Institute on Aging (T32 AG000222)
- National Institute of General Medical Sciences (NIGMS) (T32 GM007753)
- NIGMS (T32 GM007753, T32 GM007226)
- National Institute of Neurological Disorders and Stroke (R01 NS032457, R01 NS079277, U01 MH106883)
- National Center for Research Resources (1S10RR028832-01)
- Paul G. Allen Family Foundation
- Leonard and Isabelle Goldenson Research Fellowship
- Louis Lange III Scholarship in Translational Research
- Eleanor and Miles Shore Fellowship
- Manton Center for Orphan Disease Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Single-cell and spatial transcriptomics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- somatic mutations, single nucleotide variants, human neurons, cerebral cortex, transcriptional mutagenesis, DNA damage, neuronal development, single-cell sequencing, postmitotic neurons
- MeSH terms
- Adolescent, Cerebral Cortex, DNA Mutational Analysis, DNA Replication, Female, Humans, Male, Mitosis, Mutation, Neurons, Transcription, Genetic, Cell Lineage, Polymorphism, Single Nucleotide, Genetic Loci, Single-Cell Analysis
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