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Article 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. Finally, RNA sequencing analysis further revealed a potential role of Satb1 in a cortical transcriptional regulatory network associated with NDDs including ID and ASD. Our results confirm the crucial roles of SATB1 in the pathogenesis of NDDs and provide insights into treatment strategies for SATB1-associated NDDs.
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