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

Title
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
Authors
BAEK, SEUNG TAEWendy WenderskiLu WangAndrey KrokhotinJessica J WalshHongjie LiHirotaka ShojiShereen GhoshRenee D GeorgeErik L MillerLaura EliasMark A GillespieEsther Y SonBrett T StaahlValentina StanleyCynthia MoncadaZohar ShiponySara B LinkerMaria C N MarchettoFred H GageDillon ChenTipu SultanMaha S ZakiJeffrey A RanishTsuyoshi MiyakawaLiqun LuoRobert C MalenkaGerald R CrabtreeJoseph G Gleeson
Date Issued
May-2020
Publisher
United States National Academy of Sciences
Abstract
Autism is a complex neurodevelopmental disorder whose causative mechanisms are unclear. Taking advantage of a unique cohort with recessively inherited autism, we identified six families with biallelic mutation of the neuronal-specific subunit of the BAF complex, ACTL6B (also known as BAF53b). Relative to all other genes, ACTL6B was the most statistically significant mutated gene in the recessive autism cohort. We describe autism-relevant phenotypes in human brain organoids and in mouse and fly models. We foresee the outcomes from this study will be the following: 1) a link between neuronal activity-dependent transcriptional repression and autism; 2) a characterization of mouse and fly models to study ACTL6B mutant autism; and 3) an understanding the role of ACTL6B and nBAF complexes in neuronal transcriptional regulation.
URI
http://oasis.postech.ac.kr/handle/2014.oak/103950
ISSN
0027-8424
Article Type
Article
Citation
Proceedings of the National Academy of Sciences of the United States of America, vol. 117, no. 18, page. 10055 - 10066, 2020-05
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백승태BAEK, SEUNG TAE
Dept of Life Sciences
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