Photoreceptor cells
- Mutations in the splicing regulator Prp31 lead to retinal degeneration in Drosophila
Summary: Retinitis pigmentosa (RP) is a human disease resulting in blindness, which affects 1 in 4.000 people worldwide. So far >90 genes have been identified that are causally related to RP. Mutations in the splicing factor PRPF31 are linked to RP11. We induced mutations in the Drosophila orthologue Prp31 and show that flies heterozygous for Prp31 undergo light-dependent retinal degeneration. Degeneration is associated with increased accumulation of the light-sensitive molecule, rhodopsin 1. In fact, reducing rhodopsin levels by dietary intervention modifies the extent of retinal degeneration. This model will further contribute to better understand the aetiology of the human disease.