Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates

• DOI: 10.1371/journal.pone.0135307
• Publication Date: 2015-08-12T18:09:19Z
• Authors: Daniel Boloc; Sergio Castillo-Lara; Gemma Marfany; Roser Gonzàlez-Du...; Josep F. Abril
• Keywords: Identification; Exome

Background Retinitis pigmentosa (RP) is a highly heterogeneous genetic visual disorder with more than 70 known causative genes, some of them shared other non-syndromic retinal dystrophies (e.g. Leber congenital amaurosis, LCA). The identification RP genes has increased steadily during the last decade, and 30% cases that still remain unassigned will soon decrease after advent exome/genome sequencing. A considerable amount functional data on single RD mutations been gathered, but comprehensive view their interacting partners very fragmentary. This main gap needs to be filled in order understand how relate progressive blinding disorders devise effective therapies. Methodology We have built an RP-specific network (RPGeNet) by merging from different sources: high-throughput BioGRID STRING databases, manually curated for interactions retrieved iHOP, as well filtered out syntactical parsing up-to-date abstracts full-text papers related research field. paths emerging when were used baits over whole interactome analysed, minimal number connections among close neighbors distilled simplify search space. Conclusions In contrast analysis isolated finding networks linking disease renders powerful etiopathological insights. here provide interactive interface, RPGeNet, molecular biologist explore centered syndromic LCA genes. By integrating tissue-specific expression levels phenotypic top network, biological highlight key players degeneration unveil new candidates.