Increased gene dosage of RFWD2 causes autistic-like behaviors and aberrant synaptic formation and function in mice.

ABSTRACT: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions, communication deficits and repetitive behaviors. A study of autistic human subjects has identified RFWD2 as a susceptibility gene for autism, and autistic patients have 3 copies of the RFWD2 gene. The role of RFWD2 as an E3 ligase in neuronal functions, and its contribution to the pathophysiology of ASD, remain unknown. We generated RFWD2 knockin mice to model the human autistic condition of high gene dosage of RFWD2. We found that heterozygous knockin (Rfwd2^+/-) male mice exhibited the core symptoms of autism. Rfwd2^+/- male mice showed deficits in social interaction and communication, increased repetitive and anxiety-like behavior, and spatial memory deficit

SUBMITTER: Li YX 

PROVIDER: S-EPMC11412905 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature