A study of genomic data from 135 people with recessively inherited autism spectrum disorder implicates the absence of a functional copy of the gene ACTL6B as a potential cause of autism in six families; autism-related behaviors in Actl6b knockout mice and neural circuitry defects in humans, mice, and flies without ACTL6B, as well as altered transcriptional repression in ACTL6B-deficient human and mouse neurons, together indicate conserved function and suggest ACTL6B loss as a paradigm for autism research.
Article #19-08238: "Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism," by Wendy Wenderski et al.
MEDIA CONTACT: Gerald R. Crabtree, Stanford University Medical Center, Stanford, CA; tel: 650-723-8391; e-mail: crabtree@stanford.edu
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Proceedings of the National Academy of Sciences