Topic: chromatin remodeling

Schizophrenia (SCZ) is a debilitating psychiatric disorder, affecting approximately 1% of the global population. Estimates of the heritability rate of SCZ range around 80%, suggesting a strong genetic component. Loss-of-function mutations in SETD1A have been linked to both SCZ risk and other neurodevelopmental phenotypes. SETD1A is involved in chromatin remodeling through its function as a H3K4 methyltransferase, but how SETD1A loss-of-function mutations lead to altered brain function remains unclear. In the present study, we aim to gain insight into functional consequences of reduced SETD1A f

The SWI/SNF (BAF) complex regulates gene transcription through chromatin remodeling, with SMARCA2 (BRM) serving as a core ATP hydrolysis enzyme subunit in this complex. Clinical cases have revealed that mutations in SMARCA2 (BRM) lead to Nicolaides-Baraitser syndrome, causing symptoms such as cortical dysplasia, corpus callosum agenesis, intellectual disability, and epilepsy. However, the pathogenic mechanisms of SMARCA2 (BRM) in neurodevelopment remain unclear. In this study, we hypothesize SMARCA2(BRM) mutation impairs the neural development through altering the chromatin remodeling of the S