The Role of AUTS2 in Neurodevelopment and Human Evolution

The 2013 document reviews the autism susceptibility candidate 2 (AUTS2) gene, which is linked to various neurological disorders, including autism, intellectual disability (ID), developmental delay (DD), and others like epilepsy and addiction. AUTS2 is expressed in the brain and is thought to be involved in transcriptional regulation, with its disruptions being associated with a spectrum of ASD phenotypes. Over 50 individuals with ASD, ID, or DD have been found with structural variants in AUTS2, but no single base-pair variants have been definitively linked to ASD. The gene's role in neurodevelopment is supported by studies in zebrafish and mice, and it is also part of a regulatory network that may influence ASD-related pathways. Additionally, AUTS2 contains regions that may contribute to human-specific cognitive traits. Despite the evidence of AUTS2's involvement in neurological disorders, more research is needed to fully understand its function, regulatory network, and contribution to human-specific brain disorders and cognition.