Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
Proceedings of the National Academy of Sciences of the United States of America
Synaptic activity in neurons leads to the rapid activation of genes involved in mammalian behavior. ATP-dependent chromatin remodelers such as the BAF complex contribute to these responses and are generally thought to activate transcription. However, the mechanisms keeping such "early activation" genes silent have been a mystery. In the course of investigating Mendelian recessive autism, we identified six families with segregating loss-of-function mutations in the neuronal BAF (nBAF) subunit
Institute for Systems Biology
Wenderski, Wendy; Wang, Lu; Krokhotin, Andrey; Walsh, Jessica J; Li, Hongjie; Shoji, Hirotaka; Ghosh, Shereen; George, Renee D; Miller, Erik L; Elias, Laura; Gillespie, Mark A; Son, Esther Y; Staahl, Brett T; Baek, Seung Tae; Stanley, Valentina; Moncada, Cynthia; Shipony, Zohar; Linker, Sara B; Marchetto, Maria C N; Gage, Fred H; Chen, Dillon; Sultan, Tipu; Zaki, Maha S; Ranish, Jeffrey A; Miyakawa, Tsuyoshi; Luo, Liqun; Malenka, Robert C; Crabtree, Gerald R; and Gleeson, Joseph G, "Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism." (2020). Articles, Abstracts, and Reports. 3024.