Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/67845
Title: Distilling a visual network of Retinitis Pigmentosa gene-protein interactions to uncover new disease candidates
Author: Boloc, Daniel
Castillo-Lara, Sergio
Marfany i Nadal, Gemma
Gonzàlez-Duarte, Roser
Abril Ferrando, Josep Francesc, 1970-
Keywords: Malalties de la retina
Genètica molecular humana
Retinal diseases
Human molecular genetics
Issue Date: 12-Aug-2015
Publisher: Public Library of Science (PLoS)
Abstract: BACKGROUND: Retinitis pigmentosa (RP) is a highly heterogeneous genetic visual disorder with more than 70 known causative genes, some of them shared with other non-syndromic retinal dystrophies (e.g. Leber congenital amaurosis, LCA). The identification of RP genes has increased steadily during the last decade, and the 30% of the cases that still remain unassigned will soon decrease after the advent of exome/genome sequencing. A considerable amount of genetic and functional data on single RD genes and mutations has been gathered, but a comprehensive view of the RP genes and their interacting partners is still very fragmentary. This is the main gap that needs to be filled in order to understand how mutations relate to progressive blinding disorders and devise effective therapies. METHODOLOGY: We have built an RP-specific network (RPGeNet) by merging data from different sources: high-throughput data from BioGRID and STRING databases, manually curated data for interactions retrieved from iHOP, as well as interactions filtered out by syntactical parsing from up-to-date abstracts and full-text papers related to the RP research field. The paths emerging when known RP genes were used as baits over the whole interactome have been analysed, and the minimal number of connections among the RP genes and their close neighbors were distilled in order to simplify the search space. CONCLUSIONS: In contrast to the analysis of single isolated genes, finding the networks linking disease genes renders powerful etiopathological insights. We here provide an interactive interface, RPGeNet, for the molecular biologist to explore the network centered on the non-syndromic and syndromic RP and LCA causative genes. By integrating tissue-specific expression levels and phenotypic data on top of that network, a more comprehensive biological view will highlight key molecular players of retinal degeneration and unveil new RP disease candidates.
Note: Reproducció del document publicat a: http://dx.doi.org/10.1371/journal.pone.0135307
It is part of: PLoS One, 2015, vol. 10, num. 8, p. e0135307-e0135307
Related resource: http://dx.doi.org/10.1371/journal.pone.0135307
URI: http://hdl.handle.net/2445/67845
ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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