Relevance to Autism

A de novo frameshift variant in the CBX1 gene was identified in a male ASD proband from the SPARK cohort in Feliciano et al., 2019. Kuroda et al., 2023 described three unrelated individuals with de novo missense variants in CBX1 who presented with a novel neurodevelopmental syndrome characterized by global developmental delay, autism spectrum disorder, hypotonia, and variable dysmorphic features; cytological and chromatin immunoprecipitation experiments demonstrated reduced binding of mutant HP1beta protein to heterochromatin, while Cbx1 mutant mice displayed increased latency-to-peak responses in an acoustic startle with prepulse inhibition assay.

Molecular Function

This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression.

External Links

References