ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

ABSTRACT: Ankyrin Repeat Domain-containing Protein 11 (ANKRD11) is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of ANKRD11 lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why ANKRD11 mutation can cause CdLS. The crystal structure of the ANKRD11 peptide in complex with cohesin, together with biochemical experiments, revealed that ANKRD11 competes with CCCTC-binding factor in binding to the cohesin complex

SUBMITTER: Liu H 

PROVIDER: S-EPMC11789155 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature