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M.A. Mandal, V. Vasireddy, P.F. Hitchcock, S.E. Moroi, J.R. Heckenlively, I.H. Maumenee, R. Ayyagari; Expression Analysis of Ctrp5 and Mfrp Bicistronic Genes Involved in Ocular Pathogenesis . Invest. Ophthalmol. Vis. Sci. 2005;46(13):2988.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To understand the molecular mechanism underlying retinal degeneration due to mutations in the CTRP5 and MFRP genes. The S163R mutation in the CTRP5 gene is associated with a complex ocular phenotype characterized by early onset long anterior lens zonules and late onset retinal degeneration (LORD) in humans. A mutation in MFRP, an independent protein expressed as a bicistronic partner with CTRP5, causes retinal degeneration in mouse (Rd6). Methods: Ctrp5 and Mfrp expression profiles were determined by qRT–PCR in different tissues of adult mice, including retina, lens, cornea, RPE–choroid–sclera, ciliary body–iris and optic nerve. We also studied the expression of these two genes in the developing eye. Cellular expression of the Ctrp5 and Mfrp transcripts was determined by in–situ hybridization. Localization of both these proteins was determined using immunohistochemistry. Results: Tissue distribution pattern of Ctrp5 and Mfrp transcripts is similar. The highest level of expression of these two genes was detected in the ciliary body and RPE. Expression of the Ctrp5 and Mfrp genes starts around E11 and is localized to the stroma of the developing iris and ciliary body. Postnatally, expression of both these genes is predominant in the RPE and cells of the ciliary epithelium (CE), whereas expression is negligible in the remaining tissues. The CTRP5 protein is localized to the plasma membrane of RPE and CE cells, whereas, the MFRP protein is localized to the extra cellular matrixes of RPE and CE. Conclusions: The expression pattern of the Ctrp5 and Mfrp genes is identical, consistent the bicistronic nature of these two genes. Expression of these genes during embryogenesis coincides with the development of ocular tissues, indicating that they may play a critical role in the normal eye development. In adult eyes, the highest level of expression was found in the tissues involved in the long anterior zonules and LORD in patients with mutation in the CTRP5 gene.
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