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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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Cites
Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing
Benjamini, Y., & Hochberg, Y. (1995) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1995.tb02031.x · Cited by 109,482
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
Gene Ontology: tool for the unification of biology
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,724
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,457
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
Gene ontology analysis for RNA-seq: accounting for selection bias
Young, M. D., Wakefield, M. J., Smyth, G. K., & Oshlack, A. (2010) · Genome Biology · doi:10.1186/gb-2010-11-2-r14 · Cited by 7,107
Integrative analysis of 111 reference human epigenomes
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature · doi:10.1038/nature14248 · Cited by 6,368
Mutational heterogeneity in cancer and the search for new cancer-associated genes
Lawrence, M. S., Stojanov, P., Polak, P., Kryukov, G. V., Cibulskis, K., Sivachenko, A., Carter, S. L., Stewart, C., Mermel, C. H., Roberts, S. A., et al. (2013) · Nature · doi:10.1038/nature12213 · Cited by 5,461
The KEGG resource for deciphering the genome
Kanehisa, M. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkh063 · Cited by 5,120
The Somatic Genomic Landscape of Glioblastoma
Brennan, C. W., Verhaak, R. G. W., McKenna, A., Campos, B., Noushmehr, H., Salama, S. R., Zheng, S., Chakravarty, D., Sanborn, J. Z., Berman, S. H., et al. (2013) · Cell · doi:10.1016/j.cell.2013.09.034 · Cited by 5,016
Self-citationSensitive detection of somatic point mutations in impure and heterogeneous cancer samples
Cibulskis, K., Lawrence, M. S., Carter, S. L., Sivachenko, A., Jaffe, D. B., Sougnez, C. L., Gabriel, S., Meyerson, M. M., Lander, E. S., & Getz, G. A. (2013) · Nature Biotechnology · doi:10.1038/nbt.2514 · Cited by 4,965
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencingPreprint
Koboldt, D. C., Zhang, Q., Larson, D. E., Shen, D., McLellan, M. D., Lin, L., Miller, C. A., Mardis, E. R., Ding, L., & Wilson, R. K. (2012) · Genome Research · doi:10.1101/gr.129684.111 · Cited by 4,954
Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt
Durinck, S., Spellman, P. T., Birney, E., & Huber, W. K. (2009) · Nature Protocols · doi:10.1038/nprot.2009.97 · Cited by 4,226
Global epigenomic reconfiguration during mammalian brain development
Lister, R., Mukamel, E. A., Nery, J. R., Urich, M., Puddifoot, C. A., Johnson, N. D., Lucero, J., Huang, Y., Dwork, A. J., Schultz, M. D., et al. (2013) · Science · doi:10.1126/science.1237905 · Cited by 1,830
High burden and pervasive positive selection of somatic mutations in normal human skin
Martincorena, I., Roshan, A., Gerstung, M., Ellis, P., Van Loo, P., McLaren, S., Wedge, D. C., Fullam, A., Alexandrov, L. B., Tubio, J. M., et al. (2015) · Science · doi:10.1126/science.aaa6806 · Cited by 1,770
Transcriptional landscape of the prenatal human brain
Miller, J. A., Ding, S.-L., Sunkin, S. M., Smith, K. A., Ng, L., Szafer, A., Ebbert, A., Riley, Z. L., Royall, J. J., Aiona, K., et al. (2014) · Nature · doi:10.1038/nature13185 · Cited by 1,325
Dean, F. B., Nelson, J. R., Giesler, T. L., & Lasken, R. S. (2001) · Genome Research · doi:10.1101/gr.180501 · Cited by 1,070
Clonal evolution in breast cancer revealed by single nucleus genome sequencing
Wang, Y., Waters, J., Leung, M. L., Unruh, A., Roh, W., Shi, X., Chen, K., Scheet, P., Vattathil, S., Liang, H., et al. (2014) · Nature · doi:10.1038/nature13600 · Cited by 1,029
Single-Cell Exome Sequencing Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor
Xu, X., Hou, Y., Yin, X., Bao, L., Tang, A., Song, L., Li, F., Tsang, S., Wu, K., Wu, H., et al. (2012) · Cell · doi:10.1016/j.cell.2012.02.025 · Cited by 667
DNA damage and its links to neurodegeneration
Madabhushi, R., Pan, L., & Tsai, L.-H. (2014) · Neuron · doi:10.1016/j.neuron.2014.06.034 · Cited by 654
Somatic mutation, genomic variation, and neurological disease
Poduri, A., Evrony, G. D., Cai, X., & Walsh, C. A. (2013) · Science · doi:10.1126/science.1237758 · Cited by 584
Self-citationThe UCSC Genome Browser database: update 2010
Rhead, B., Karolchik, D., Kuhn, R. M., Hinrichs, A. S., Zweig, A. S., Fujita, P. A., Diekhans, M., Smith, K. E., Rosenbloom, K. R., Raney, B. J., et al. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp939 · Cited by 572
Sequencing newly replicated DNA reveals widespread plasticity in human replication timing
Hansen, R. S., Thomas, S., Sandstrom, R. S., Canfield, T. K., Thurman, R. E., Weaver, M., Dorschner, M. O., Gartler, S. M., & Stamatoyannopoulos, J. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912402107 · Cited by 556
Mosaic Copy Number Variation in Human Neurons
McConnell, M. J., Lindberg, M. R., Brennand, K. J., Piper, J. C., Voet, T., Cowing-Zitron, C., Shumilina, S., Lasken, R. S., Vermeesch, J. R., Hall, I. M., et al. (2013) · Science · doi:10.1126/science.1243472 · Cited by 551
Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain
Evrony, G. D., Cai, X., Lee, E., Hills, L. B., Elhosary, P. C., Lehmann, H. S., Parker, J. J., Atabay, K. D., Gilmore, E. C., Poduri, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.09.035 · Cited by 548
Self-citationGenome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm
Wang, J., Fan, H. C., Behr, B. R., & Quake, S. R. (2012) · Cell · doi:10.1016/j.cell.2012.06.030 · Cited by 521
Variation in the mutation rate across mammalian genomes
Hodgkinson, A., & Eyre-Walker, A. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3098 · Cited by 487
Guo, G., Sun, X., Chen, C., Wu, S., Huang, P., Li, Z., Dean, M. C., Huang, Y. F., Jia, W., Zhou, Q., et al. (2013) · Nature Genetics · doi:10.1038/ng.2798 · Cited by 479
Deterministic Progenitor Behavior and Unitary Production of Neurons in the Neocortex
Gao, P., Postiglione, M. P., Krieger, T. G., Hernandez, L., Wang, C., Han, Z., Streicher, C., Papusheva, E., Insolera, R., Chugh, K., et al. (2014) · Cell · doi:10.1016/j.cell.2014.10.027 · Cited by 449
Human mutation rate associated with DNA replication timing
Stamatoyannopoulos, J. A., Adzhubei, I. A., Thurman, R. E., Kryukov, G. V., Mirkin, S. M., & Sunyaev, S. R. (2009) · Nature Genetics · doi:10.1038/ng.363 · Cited by 423
The Landscape of Microsatellite Instability in Colorectal and Endometrial Cancer Genomes
Kim, T., Laird, P. W., & Park, P. J. (2013) · Cell · doi:10.1016/j.cell.2013.10.015 · Cited by 387
Self-citationGenome sequencing of normal cells reveals developmental lineages and mutational processes
Behjati, S., Huch, M., van Boxtel, R., Karthaus, W., Wedge, D. C., Tamuri, A. U., Martincorena, I., Petljak, M., Alexandrov, L. B., Gundem, G., et al. (2014) · Nature · doi:10.1038/nature13448 · Cited by 357
Cai, X., Evrony, G. D., Lehmann, H. S., Elhosary, P. C., Mehta, B. K., Poduri, A., & Walsh, C. A. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.07.043 · Cited by 318
Self-citationA Quantitative Comparison of Single-Cell Whole Genome Amplification Methods
de Bourcy, C. F. A., Vlaminck, I. D., Kanbar, J. N., Wang, J., Gawad, C., & Quake, S. R. (2014) · PLoS ONE · doi:10.1371/journal.pone.0105585 · Cited by 312
Paez, J. G. (2004) · Nucleic Acids Research · doi:10.1093/nar/gnh069 · Cited by 287
Transcription-associated mutational asymmetry in mammalian evolution
Program, N. C. S., Green, P., Ewing, B., Miller, W., Thomas, P. J., & Green, E. D. (2003) · Nature Genetics · doi:10.1038/ng1103 · Cited by 285
Esteban, J. A., Salas, M., & Blanco, L. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)53833-3 · Cited by 282
Cell lineage analysis in human brain using endogenous retroelements
Evrony, G. D., Lee, E., Mehta, B. K., Benjamini, Y., Johnson, R. M., Cai, X., Yang, L., Haseley, P., Lehmann, H. S., Park, P. J., et al. (2015) · Neuron · doi:10.1016/j.neuron.2014.12.028 · Cited by 269
Self-citationSystematic widespread clonal organization in cerebral cortex
Reid, C. B., Llang, I., & Walsh, C. (1995) · Neuron · doi:10.1016/0896-6273(95)90035-7 · Cited by 232
Self-citationKornack, D. R., & RAKIC, P. T. (1995) · Neuron · doi:10.1016/0896-6273(95)90036-5 · Cited by 221
Single-cell genomic sequencing using Multiple Displacement Amplification
Lasken, R. S. (2007) · Current Opinion in Microbiology · doi:10.1016/j.mib.2007.08.005 · Cited by 205
Frank, S. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0909343106 · Cited by 185
Somatic mosaicism in healthy human tissues
De, S. (2011) · Trends in Genetics · doi:10.1016/j.tig.2011.03.002 · Cited by 179
Mutation Detection by Real-Time PCR: A Simple, Robust and Highly Selective Method
Morlan, J., Baker, J. B., & Sinicropi, D. V. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004584 · Cited by 114
Transcription induces strand-specific mutations at the 5′ end of human genesPreprint
Polak, P. P., & Arndt, P. F. (2008) · Genome Research · doi:10.1101/gr.076570.108 · Cited by 114
Karl Pearson’s meta-analysis revisited
Owen, A. B. (2009) · The Annals of Statistics · doi:10.1214/09-aos697 · Cited by 99
The SCN1A gene variants and epileptic encephalopathies
Parihar, R., & Ganesh, S. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.77 · Cited by 88
Sampling Methods for Wallenius' and Fisher's Noncentral Hypergeometric Distributions
Fog, A. (2008) · Communications in Statistics - Simulation and Computation · doi:10.1080/03610910701790236 · Cited by 71
Morita, Y., Callicott, J. H., Testa, L. R., Mighdoll, M. I., Dickinson, D., Chen, Q., Tao, R., Lipska, B. K., Kolachana, B. S., Law, A. J., et al. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.1423-13.2014 · Cited by 64
Characterization of whole genome amplified (WGA) DNA for use in genotyping assay development
Han, T., Chang, C., Kwekel, J. C., Chen, Y., Yun, G., Martínez-Murillo, F., Roscoe, D. M., Težak, Ž., Philip, R., Bijwaard, K. E., et al. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-217 · Cited by 41
Structural Genetic Variation in the Context of Somatic Mosaicism
Dumanski, J. P., & Piotrowski, A. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_12 · Cited by 36
The Cortex of the Four-Year Child
Conel, J. L. (1963) · doi:10.4159/harvard.9780674187719 · Cited by 14
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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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