A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8.

ABSTRACT: Retinitis pigmentosa (RP) represents genetically heterogeneous and clinically variable disease characterized by progressive degeneration of photoreceptors resulting in a gradual loss of vision. The autosomal dominant RP type 13 (RP13) has been linked to the malfunction of PRPF8, an essential component of the spliceosome. Over 20 different RP-associated PRPF8 mutations have been identified in human patients. However, the cellular and molecular consequences of their expression in vivo in specific tissue contexts remain largely unknown. Here, we establish a Drosophila melanogaster model for RP13 by introducing the nine distinct RP mutations into the fly PRPF8 ortholog prp8 and express the mutant proteins in precise spatiotemporal patterns using the Gal4/UAS

SUBMITTER: Stankovic D 

PROVIDER: S-EPMC7328144 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature