A rat Satb1 truncation causes neurodevelopmental abnormalities recapitulating the symptoms of patients with SATB1 mutations.

ABSTRACT: The special AT-rich sequence binding protein 1 (SATB1) has been linked to neurodevelopmental disorders (NDDs) including developmental delay, intellectual disabilities (ID) and autism spectrum disorder (ASD). But the underlying biological mechanisms are still not fully understood. In this study we generated a rat model with a truncated Satb1 protein. We showed that Satb1 mutant caused growth retardation, microcephaly, altered ultrasonic vocalization and delayed neurobehavioral development in mutant pups as well as social and cognitive behavior deficits in adult mutants, mimicking the typical clinical characteristics of SATB1-associated NDDs. Injection of a GABAergic enhancer clonazepam (0.04 mg/kg, i.p.) effectively alleviated the abnormal social and cognitive behaviors in Satb1 mutant rats

SUBMITTER: Hu ZB 

PROVIDER: S-EPMC12644705 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature