Disease relevance of OPTC

• Due to opticin's protein profile in the eye, we have also screened OPTC for mutations in individuals with primary open-angle glaucoma (POAG), normal-tension glaucoma (NTG) or AMD [1].
• OPTC is located on chromosome 1q31-q32 within an age-related macular degeneration (AMD) susceptibility locus [1].
• By contrast, none of eight neoplastic lesions (two adenoma and six adenocarcinoma) of CBE stained for opticin [2].

High impact information on OPTC

• Immunohistochemical experiments revealed that opticin is specifically localized in human cornea, iris, ciliary body, vitreous, choroid and retina [1].
• Opticin remains a dimer after removal of the amino-terminal region by O-sialoglycoprotein endopeptidase digestion, suggesting that dimer formation is mediated by the leucine-rich repeats [3].
• Opticin is a class III member of the extracellular matrix small leucine-rich repeat protein (SLRP) family that was initially identified in the eye in association with the collagen fibrils of the vitreous humor [3].
• Characterization of opticin and evidence of stable dimerization in solution [3].
• Opticin mRNA was found by reverse transcription polymerase chain reaction in ligament and skin as well as in retina [4].

Biological context of OPTC

• The coding sequence of OPTC was amplified by PCR from genomic DNA of POAG patients, followed by SSCP, DHPLC and DNA sequencing [5].
• Synteny and the expression patterns of these genes suggest that the dspg3l and optcl are the orthologs to the mammalian dspg3 and optc genes, respectively [6].

Anatomical context of OPTC

• Western blotting with a specific peptide antibody detects Optc in iris, ciliary body and retina in the human eye and suggests that the protein is post-translationally modified [7].
• In situ hybridisation studies have previously demonstrated opticin expression by the posterior non-pigmented ciliary epithelium [8].
• Opticin and GH were also colocalized in the retina in retinal ganglion cells [9].
• The current study was conducted to investigate the possibility that opticin binds retinal GH in the vitreous of the chick embryo [9].
• RESULTS: Opticin was immunolocalised to the basal cell surface and basement membrane material of the non-pigmented CBE in nine donor eyes as well as four hyperplastic lesions of the CBE (Fuchs's adenoma) [2].

Associations of OPTC with chemical compounds

• AIM: To localise the recently discovered glycoprotein opticin in the adult human eye [8].

Other interactions of OPTC

• Radiation hybrid mapping shows that the gene for OPTC is located on chromosome 1q31, close to the inherited eye diseases ARMD1 and AXPC1 [7].

Analytical, diagnostic and therapeutic context of OPTC

• Subsequent bioinformatic analysis, site-directed mutagenesis, quantitative RT-PCR and western blot experiments were performed to address the functional significance of a 'silent' change in the OPTC coding region while screening for mutations in POAG patients [5].
• Identification in vitreous and molecular cloning of opticin, a novel member of the family of leucine-rich repeat proteins of the extracellular matrix [4].
• Sequence analysis suggests that Optc has a signal peptide and two structural domains, the larger of which is the LRR domain [7].
• METHODS: The vitreous and retina of embryonic day-8 chicks were examined for the presence of opticin and GH, by Western immunoblot analysis, coimmunoprecipitation, and immunocytochemistry [9].

References