@article{619990b7c30a4cccb316da5d56ef2e40,
title = "Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network",
abstract = "Neuropsychiatric disorders have a complex genetic architecture. Human genetic populationbased 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 somaticmutations 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.",
author = "{Brain Somatic Mosaicism Network} and McConnell, {Michael J.} and Moran, {John V.} and Alexej Abyzov and Schahram Akbarian and Taejeong Bae and Isidro Cortes-Ciriano and Erwin, {Jennifer A.} and Liana Fasching and Flasch, {Diane A.} and Donald Freed and Javier Ganz and Jaffe, {Andrew E.} and Kwan, {Kenneth Y.} and Minseok Kwon and Lodato, {Michael A.} and Mills, {Ryan E.} and Paquola, {Apua C.M.} and Rodin, {Rachel E.} and Chaggai Rosenbluh and Nenad Sestan and Sherman, {Maxwell A.} and Shin, {Joo Heon} and Saera Song and Straub, {Richard E.} and Jeremy Thorpe and Weinberger, {Daniel R.} and Urban, {Alexander E.} and Bo Zhou and Gage, {Fred H.} and Thomas Lehner and Geetha Senthil and Walsh, {Christopher A.} and Andrew Chess and Eric Courchesne and Gleeson, {Joseph G.} and Kidd, {Jeffrey M.} and Park, {Peter J.} and Jonathan Pevsner and Vaccarino, {Flora M.}",
note = "Funding Information: We thank T. Insel for initiating this project, L. Bingaman for ongoing administrative assistance, and N. Leff and M. L. Gage for copyediting assistance. J.M.K acknowledges support provided by the Pew Biomedical Scholars Award. J.V.M. is an inventor on patent application 6150160, held by the John Hopkins University and the Trustees of the University of Pennsylvania, which covers the compositions and methods of use of mammalian retrotransposons. We also acknowledge the support of NIH R01 MH100914, Genomic mosaicism in developing human brain (F.M.V.). Some figures use images from the Servier Medical Art PowerPoint Image Bank. All the work was supported by U01MH106883, U01MH106874, U01MH106893, U01MH106892, U01MH106882, U01MH106876, U01MH1068898, U01MH106891, and U01MH106884. We regret that space constraints limit the number of references and apologize to many colleagues whose very valuable contributions to this field are not cited. Publisher Copyright: {\textcopyright} Copyright 2016 by the American Association for the Advancement of Science.",
year = "2017",
month = apr,
day = "28",
doi = "10.1126/science.aal1641",
language = "English (US)",
volume = "356",
journal = "Science",
issn = "0036-8075",
publisher = "American Association for the Advancement of Science",
number = "6336",
}