Chalmel, Frédéric, Léveillard, Thierry, Jaillard, Céline, Lardenois, Aurélie, Berdugo, Naomi, Morel, Emmanuelle, Koehl, Patrice, Lambrou, George N., Holmgren, Arne, Sahel, José and Poch, Olivier (2007) Rod-derived Cone Viability Factor-2 is a novel bifunctional-thioredoxin-like protein with therapeutic potential. BMC Molecular Biology, 8 (1). p. 74. ISSN 1471-2199

Abstract

BACKGROUND:Cone degeneration is the hallmark of the inherited retinal disease retinitis pigmentosa. We have previously identified a trophic factor "Rod-derived Cone Viability Factor (RdCVF) that is secreted by rods and promote cone viability in a mouse model of the disease.RESULTS:Here we report the bioinformatic identification and the experimental analysis of RdCVF2, a second trophic factor belonging to the Rod-derived Cone Viability Factor family. The mouse RdCVF gene is known to be bifunctional, encoding both a long thioredoxin-like isoform (RdCVF-L) and a short isoform with trophic cone photoreceptor viability activity (RdCVF-S). RdCVF2 shares many similarities with RdCVF in terms of gene structure, expression in a rod-dependent manner and protein 3D structure. Furthermore, like RdCVF, the RdCVF2 short isoform exhibits cone rescue activity that is independent of its putative thiol-oxydoreductase activity.CONCLUSION:Taken together, these findings define a new family of bifunctional genes which are: expressed in vertebrate retina, encode trophic cone viability factors, and have major therapeutic potential for human retinal neurodegenerative diseases such as retinitis pigmentosa.

Item Type:	Article
Related URLs:	http://www.pubmedcentral.nih.gov/article...
Related URLs:	http://www.pubmedcentral.nih.gov/article...
Date Deposited:	13 Oct 2015 13:17
Last Modified:	13 Oct 2015 13:17
URI:	https://oak.novartis.com/id/eprint/218