Abstract 1720 Examining Cellular Phenotypes Induced by Retinitis Pigmentosa PRPF6 Missense Mutations

Retinitis pigmentosa (RP) is a retinal degenerative disease that affects over 1.5 million people worldwide. Due to photoreceptor cell degradation, patients with RP begin to experience night blindness and tunnel vision which eventually progresses to complete blindness. The autosomal dominant form of Retinitis pigmentosa (adRP) is associated with mutations found in eight key pre-messenger RNA splicing proteins that aid spliceosomal assembly, including PRPF6, the protein of interest in this study. The spliceosome is a large RNA-protein complex made of five small nuclear ribonucleoproteins, or snRNPs, which go through a series of conformational changes in order to facilitate the removal of introns and ligation of exons to produce mature mRNA.