A microexon regulatory code reveals autism-linked genetic variation

A microexon regulatory code reveals autism-linked genetic variation

Neuronal microexons are a highly conserved class of alternative splicing events enriched in genes with critical functions in nervous system biology1,2. Microexon splicing is often disrupted in the brains of autistic individuals, and mice with microexon deficiencies display autism-like phenotypes1,3,4. However, the full landscape of microexons is not known, and the impact of genetic variation on these exons has not been systematically investigate…

Newly Identified Microexons Offer Clues to Autism Spectrum Disorder’s Genetic Roots

Scientists from the University of Toronto, the Sloan Kettering Institute, King’s College London, and the Francis Crick Institute have published data that points to a role for several new microexons in the development of autism spectrum disorder (ASD). According to the findings, published today in Nature, the scientists identified hundreds of new microexons that appear to be involved in ASD and other neurological conditions, and developed a machi…