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Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
Open accessAbstract
Neuropsychiatric disorders have a complex genetic architecture. Human genetic population-based studies have identified numerous heritable sequence and structural genomic variants associated with susceptibility to neuropsychiatric disease. However, these germline variants do not fully account for disease risk. During brain development, progenitor cells undergo billions of cell divisions to generate the ~80 billion neurons in the brain. The failure to accurately repair DNA damage arising during replication, transcription, and cellular metabolism amid this dramatic cellular expansion can lead to somatic mutations. Somatic mutations that alter subsets of neuronal transcriptomes and proteomes can, in turn, affect cell proliferation and survival and lead to neurodevelopmental disorders. The long life span of individual neurons and the direct relationship between neural circuits and behavior suggest that somatic mutations in small populations of neurons can significantly affect individual neurodevelopment. The Brain Somatic Mosaicism Network has been founded to study somatic mosaicism both in neurotypical human brains and in the context of complex neuropsychiatric disorders.
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“Somatic activating mutations in the PI3K/AKT pathway are associated with hemimegalencephaly and focal cortical dysplasia syndromes that are marked by cortical dyslamination, dysmorphic neurons and loss of radial neuronal orientation [50, 105, 106].”
From The ASD Living Biology: from cell proliferation to clinical phenotype (2019) · cites this paper as [50]
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“Previous studies have shown increased neuronal genomic mosaicism (including SNVs, copy number variations, and cDNA insertions in neurodegeneration)124–128.”
From Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration (2023) · cites this paper as [128]
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Metadata
- Authors
- McConnell, M. J., Moran, J. V., Abyzov, A., Akbarian, S., Bae, T., Cortes-Ciriano, I., Erwin, J. A., Fasching, L., Flasch, D. A., Freed, D., Ganz, J., Jaffe, A. E., Kwan, K. Y., Kwon, M., Lodato, M. A., Mills, R. E., Paquola, A. C. M., Rodin, R. E., Rosenbluh, C., Sestan, N., Sherman, M. A., Shin, J. H., Song, S., Straub, R. E., Thorpe, J., Weinberger, D. R., Urban, A. E., Zhou, B., Gage, F. H., Lehner, T., Senthil, G., Walsh, C. A., Chess, A., Courchesne, E., Gleeson, J. G., Kidd, J. M., Park, P. J., Pevsner, J., Vaccarino, F. M., Brain Somatic Mosaicism Network, Barton, A. R., Bekiranov, S., Bohrson, C. L., Burbulis, I. E., Chronister, W., Coppola, G., Daily, K., D’Gama, A. M., Emery, S. B., Frisbie, T. J., Gao, T., Gulyás-Kovács, A., Haakenson, M., Keil, J. M., Kopera, H. C., Lam, M. M., Lee, E. A., Marques-Bonet, T., Mathern, G. W., Moldovan, J. B., Oetjens, M. T., Omberg, L., Peters, M. A., Pochareddy, S., Pramparo, T., Ratan, A., Sanavia, T., Shi, L., Skarica, M., Wang, J., Wang, M., Wang, Y., Wierman, M., Wolpert, M., Woodworth, M., Zhao, X., & Zhou, W.
- Affiliations
- University of Virginia Medical Center (US)
- University of Michigan (US)
- Mayo Clinic (US)
- Icahn School of Medicine at Mount Sinai (US)
- Department of Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA 02115, USA.
- Salk Institute for Biological Studies (US)
- Yale University (US)
- Kennedy Krieger Institute (US)
- Broad Institute (US)
- Lieber Institute for Brain Development (US)
- The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA.
- Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA.
- Harvard University (US)
- Howard Hughes Medical Institute (US)
- Johns Hopkins University (US)
- Stanford Medicine (US)
- National Institutes of Health (US)
- University of California San Diego (US)
- Corresponding author
- McConnell, Michael J.
- Moran, John V.
- ORCID
- McConnell, Michael J.
- Moran, John V.
- Abyzov, Alexej
- Akbarian, Schahram
- Bae, Taejeong
- Cortes-Ciriano, Isidro
- Erwin, Jennifer A.
- Fasching, Liana
- Flasch, Diane A.
- Freed, Donald
- Ganz, Javier
- Jaffe, Andrew E.
- Kwan, Kenneth Y.
- Lodato, Michael A.
- Mills, Ryan E.
- Paquola, Apua C. M.
- Rodin, Rachel E.
- Rosenbluh, Chaggai
- Sestan, Nenad
- Sherman, Maxwell A.
- Shin, Joo Heon
- Song, Saera
- Straub, Richard E.
- Thorpe, Jeremy
- Weinberger, Daniel R.
- Urban, Alexander E.
- Zhou, Bo
- Gage, Fred H.
- Lehner, Thomas
- Senthil, Geetha
- Walsh, Christopher A.
- Chess, Andrew
- Courchesne, Eric
- Gleeson, Joseph G.
- Kidd, Jeffrey M.
- Park, Peter J.
- Pevsner, Jonathan
- Vaccarino, Flora M.
- Barton, Alison R.
- Bekiranov, Stefan
- Bohrson, Craig L.
- Burbulis, Ian E.
- Coppola, Gianfilippo
- Daily, Kenneth
- D’Gama, Alissa M.
- Gao, Tianliuyun
- Keil, Jason M.
- Kopera, Huira C.
- Lam, Mandy M.
- Lee, Eunjung Alice
- Mathern, Gary W.
- Moldovan, John B.
- Oetjens, Matthew T.
- Omberg, Larsson
- Peters, Mette A.
- Pochareddy, Sirisha
- Pramparo, Tiziano
- Ratan, Aakrosh
- Sanavia, Tiziana
- Shi, Lei
- Wang, Jia
- Wang, Meiyan
- Wang, Yifan
- Woodworth, Mollie
- Zhao, Xuefang
- Zhou, Weichen
- Venue
- Science
- Published
- 2017-04-28
- Volume
- 356
- Issue
- 6336
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC5558435
- OpenAlex
- W2609808058
- Cited by
- 262
- References
- 137
- Citations by year
- 2026: 9 · 2025: 15 · 2024: 17 · 2023: 23 · 2022: 29 · 2021: 36 · 2020: 34 · 2019: 38 · 2018: 46 · 2017: 15
- FWCI
- 4.68
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Funders
- National Institute of Mental Health (award296712, U01MH106883, award302292, U01MH106884, award302289, U01MH106891, award302291, U01MH106892, award302295, U01MH106893, award302290, U01MH108989, award302293)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- somatic mosaicism, somatic mutations, neuropsychiatric disorders, neurodevelopmental disorders, germline mutations, structural variants, neuronal transcriptome, neuronal proteome
- MeSH terms
- Mental Disorders, Brain, Cell Division, DNA Damage, DNA Mutational Analysis, DNA Repair, DNA Replication, Germ Cells, Humans, Mosaicism, Nerve Net, Nervous System Diseases, Neurons, Genome, Human, Neural Stem Cells
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