DNMT1 RFTS mutation alters RNA splicing and drives neurodegeneration via its RNA-binding function [RNA-BisSeq]

ABSTRACT: DNA Methyltransferase 1 (DNMT1) is a key enzyme in maintaining DNA methylation. Mutations in the RFTS domain of DNMT1 are associated with two neurodegenerative diseases: Hereditary sensory and autonomic neuropathy type 1E with dementia and hearing loss (HSAN1E) and Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN), the molecular pathogenic mechanisms of which have not yet been elucidated. Pre-mRNA alternative splicing is an important post-transcriptional process for increasing protein functional diversity in organisms, and the dysregulation of the alternative splicing process plays a significant role in the occurrence and development of neurodegenerative diseases.

ORGANISM(S): Homo sapiens

PROVIDER: GSE284389 | GEO | 2026/06/01

REPOSITORIES: GEO