MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders

ABSTRACT: Mutations in MECP2 cause several neurological disorders of which Rett syndrome (RTT) represents the best-defined condition. Although mainly working as a transcriptional repressor, MeCP2 is a multifunctional protein revealing several activities, the involvement of which in RTT remains obscure. Besides being mainly localized in the nucleus, MeCP2 associates with the centrosome, an organelle from which primary cilia originate. Primary cilia function as "sensory antennae" protruding from most cells, and a link between primary cilia and mental illness has been recently demonstrated. We herein demonstrate that MeCP2 deficiency affects ciliogenesis in cultured cells, including neurons and RTT fibroblasts, and in the mouse brain. Consequently, the cilium-related Sonic Hedgehog pathway, which is e

SUBMITTER: Dr. Angelisa Frasca 

PROVIDER: S-SCDT-EMM-2019-10270 | biostudies-other |

REPOSITORIES: biostudies-other