Cited by 272Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersCancer Genomics and Diagnostics

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Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

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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., Kwon, Minseok, 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., Brain Somatic Mosaicism Network, Barton, Alison R., Bekiranov, Stefan, Bohrson, Craig L., Burbulis, Ian E., Chronister, William, Coppola, Gianfilippo, Daily, Kenneth, D’Gama, Alissa M., Emery, Sarah B., Frisbie, Trenton J., Gao, Tianliuyun, Gulyás-Kovács, Attila, Haakenson, Mark, Keil, Jason M., Kopera, Huira C., Lam, Mandy M., Lee, Eunjung Alice, Marques-Bonet, Tomas, Mathern, Gary W., Moldovan, John B., Oetjens, Matthew T., Omberg, Larsson, Peters, Mette A., Pochareddy, Sirisha, Pramparo, Tiziano, Ratan, Aakrosh, Sanavia, Tiziana, Shi, Lei, Skarica, Mario, Wang, Jia, Wang, Meiyan, Wang, Yifan, Wierman, Margaret, Wolpert, Matthew, Woodworth, Mollie, Zhao, Xuefang, Zhou, Weichen·2017·Science

DOI 10.1126/science.aal1641PMC PMC5558435

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Abstract

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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Additional file 5 of Comprehensive identification of somatic nucleotide variants in human brain tissue
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Wang, Y., Bae, T., Thorpe, J., Sherman, M. A., Jones, A. G., Cho, S., Daily, K., Dou, Y., Ganz, J., Galor, A., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14337781
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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
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2017-04-28
Volume: 356
Issue: 6336
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.aal1641
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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Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

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