Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome.

ABSTRACT: Noncoding RNAs play regulatory roles in physiopathology, but their involvement in neurodevelopmental diseases is poorly understood. Rett syndrome is a severe, progressive neurodevelopmental disorder linked to loss-of-function mutations of the MeCP2 gene for which no cure is yet available. Analysis of the noncoding RNA profile corresponding to the brain-abundant circular RNA (circRNA) and transcribed-ultraconserved region (T-UCR) populations in a mouse model of the disease reveals widespread dysregulation and enrichment in glutamatergic excitatory signaling and microtubule cytoskeleton pathways of the corresponding host genes. Proteomic analysis of hippocampal samples from affected individuals confirms abnormal levels of several cytoskeleton-related proteins together with key alterat

SUBMITTER: Siqueira E 

PROVIDER: S-EPMC8749388 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature