Article
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 - 5 May 2020
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, Gleeson Joseph G
Abstract excerpt
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...
Topics
- Actins
- Adenosine Triphosphate
- Animals
- Autism Spectrum Disorder
- Behavior, Animal
- Chromatin
- Chromatin Assembly and Disassembly