Microexons: at the nexus of nervous system development, behaviour and autism spectrum disorder.
Curr Opin Genet Dev. 2020 Jun 11;65:22-33
Authors: Gonatopoulos-Pournatzis T, Blencowe BJ
The discovery and characterization of a network of highly conserved neuronal microexons have provided fundamental new insight into mechanisms underlying nervous system development and function, as well as an important basis for pathway convergence in autism spectrum disorder. In the past few years, considerable progress has been made in comprehensively determining the repertoires of factors that control neuronal microexons. These results have illuminated molecular mechanisms that activate the splicing of microexons, including those that control gene expression programs critical for neurogenesis, as well as synaptic protein translation and neuronal activity. Remarkably, individual disruption of specific microexons in these pathways results in autism-like phenotypes and cognitive impairment in mice. This review discusses these findings and their implications for delivering new therapeutic strategies for neurological disorders.
PMID: 32535349 [PubMed - as supplied by publisher]