Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.

ABSTRACT: 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 ACTL6B (originally named BAF53b). Accordingly, ACTL6B was the most significantly mutated gene in the Simons Recessive Autism Cohort. At least 14 subunits of the nBAF complex are mutated in autism, collectively making it a major contributor to autism spectrum disorder (ASD). Patient

SUBMITTER: Wenderski W 

PROVIDER: S-EPMC7211998 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature