Huntingtin (HTT) interactome in regulation of DNA repair/remodeling and RNA processing pathways - PubMed
3 hours ago
- #HTT interactome
- #Huntington's disease
- #DNA repair
- Huntington's disease (HD) is caused by CAG repeat expansion in the HD gene, leading to mutant huntingtin protein (HTT).
- DNA damage response is implicated in HD pathogenesis, with double-strand break (DSB) repair impaired in HD neurons.
- HTT S1181 phosphorylation is regulated by DSB and can be mediated by DNA-PK.
- HTT interacts with DNA-PKcs and nuclear speckles, suggesting a role in DSB repair.
- HTT also interacts with TCERG1, MED15 (HD genetic modifiers), and the BAF chromatin remodeling complex.
- HTT may act as a scaffolding intermediary, integrating gene expression and RNA processing in DNA repair.