作者
Michael J McConnell, John V Moran, Alexej Abyzov, Schahram Akbarian, Taejeong Bae, Isidro Cortes-Ciriano, Jennifer A Erwin, Liana Fasching, Diane A Flasch, Donald Freed, Javier Ganz, Andrew E Jaffe, Kenneth Y Kwan, Minseok Kwon, Michael A Lodato, Ryan E Mills, Apua CM Paquola, Rachel E Rodin, Chaggai Rosenbluh, Nenad Sestan, Maxwell A Sherman, Joo Heon Shin, Saera Song, Richard E Straub, Jeremy Thorpe, Daniel R Weinberger, Alexander E Urban, Bo Zhou, Fred H Gage, Thomas Lehner, Geetha Senthil, Christopher A Walsh, Andrew Chess, Eric Courchesne, Joseph G Gleeson, Jeffrey M Kidd, Peter J Park, Jonathan Pevsner, Flora M Vaccarino, Brain Somatic Mosaicism Network
发表日期
2017/4/28
来源
Science
卷号
356
期号
6336
页码范围
eaal1641
出版商
American Association for the Advancement of Science
简介
BACKGROUND
Elucidating the genetic architecture of neuropsychiatric disorders remains a major scientific and medical challenge. Emerging genomic technologies now permit the analysis of somatic mosaicism in human tissues. The measured frequencies of single-nucleotide variants (SNVs), small insertion/deletion (indel) mutations, structural variants [including copy number variants (CNVs), inversions, translocations, and whole-chromosome gains or losses], and mobile genetic element insertions (MEIs) indicate that each neuron may harbor hundreds of somatic mutations. Given the long life span of neurons and their central role in neural circuits and behavior, somatic mosaicism represents a potential mechanism that may contribute to neuronal diversity and the etiology of numerous neuropsychiatric disorders.
ADVANCES
Somatic mutations that confer cellular proliferative or cellular survival phenotypes have …
学术搜索中的文章
MJ McConnell, JV Moran, A Abyzov, S Akbarian, T Bae… - Science, 2017