ArticleInvestigative ophthalmology & visual science2010
Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.
Article in Investigative ophthalmology & visual science, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- UCHL1-mediated deubiquitination of GLOD4 regulates mitochondrial homeostasis and PTC malignant progression via GLO1.Molecular and cellular biochemistry · 2026Article
- Expression ofAnimals : an open access journal from MDPI · 2024Article
- Optical coherence tomography and molecular analysis of sudden acquired retinal degeneration syndrome (SARDS) eyes suggests the immune-mediated nature of retinal damage.Veterinary ophthalmology · 2019Article
- Molecular studies of phenotype variation in canine RPGR-XLPRA1.Molecular vision · 2016Article
- A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.PloS one · 2015Article
- Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration.BMC genomics · 2014Article
- Identification of cilia genes that affect cell-cycle progression using whole-genome transcriptome analysis in Chlamydomonas reinhardtti.G3 (Bethesda, Md.) · 2013Article
- Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration.PloS one · 2013Article
- Article
- Development and validation of a canine-specific profiling array to examine expression of pro-apoptotic and pro-survival genes in retinal degenerative diseases.Advances in experimental medicine and biology · 2012Article
- A compendium of canine normal tissue gene expression.PloS one · 2011Article
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Authors and funding
6 authors.
Funding
Abstract
purposeTo identify genes and molecular mechanisms associated with photoreceptor degeneration in a canine model of XLRP caused by an RPGR exon ORF15 microdeletion. Methods. Expression profiles of mutant and normal retinas were compared by using canine retinal custom cDNA microarrays. qRT-PCR, Western blot analysis, and immunohistochemistry (IHC) were applied to selected genes, to confirm and expand the microarray results.
resultsAt 7 and 16 weeks, respectively, 56 and 18 transcripts were downregulated in the mutant retinas, but none were differentially expressed (DE) at both ages, suggesting the involvement of temporally distinct pathways. Downregulated genes included the known retina-relevant genes PAX6, CHML, and RDH11 at 7 weeks and CRX and SAG at 16 weeks. Genes directly or indirectly active in apoptotic processes were altered at 7 weeks (CAMK2G, NTRK2, PRKCB, RALA, RBBP6, RNF41, SMYD3, SPP1, and TUBB2C) and 16 weeks (SLC25A5 and NKAP). Furthermore, the DE genes at 7 weeks (ELOVL6, GLOD4, NDUFS4, and REEP1) and 16 weeks (SLC25A5 and TARS2) are related to mitochondrial functions. qRT-PCR of 18 genes confirmed the microarray results and showed DE of additional genes not on the array. Only GFAP was DE at 3 weeks of age. Western blot and IHC analyses also confirmed the high reliability of the transcriptomic data.
conclusionsSeveral DE genes were identified in mutant retinas. At 7 weeks, a combination of nonclassic anti- and proapoptosis genes appear to be involved in photoreceptor degeneration, whereas at both 7 and 16 weeks, the expression of mitochondria-related genes indicates that they may play a relevant role in the disease process.
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