Project

EYE-­splice: towards more insights into the role of trans-acting pre­mRNA splicing dynamics in the pathogenesis of inherited blindness

Acronym
EYE-­splice
Code
01D04716
Duration
01 October 2016 → 30 September 2018
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Ophthalmology and optometry
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Ophthalmology and optometry
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Ophthalmology and optometry
Keywords
Trans-acting splicing
 
Project description

This project aims to provide insight into the role of SF3B2 in the pathogenesis of autosomal dominant retinitis pigmentosa (adRP). Following research questions are addressed: where does WT SF3B2 localize in adult human and mouse retina? What are the pathogenic consequences of the SF3B2 mutations in cellular models? What are the pathogenic consequences of SF3B2 mutations in vivo? Can trans-­acting mutations of SF3B2 be identified in a larger cohort of adRP patients?