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Tamar Ben-Yosef, PhD

Assistant Professor of Genetics

PhD, 1998 - Hebrew University, Israel

The role of the PRCD gene in retinal function and disease

Retinitis pigmentosa (RP) is the most common form of vision impairment due to hereditary retinal degeneration. Over 35 genes and loci have been implicated in nonsyndromic autosomal recessive RP. Mutations of the PRCD gene cause progressive retinal degeneration in both humans and dogs, suggesting that PRCD plays a crucial role in normal retinal function. Characterization of PRCD expression patterns and identification of cellular pathways in which it is involved are required to ascertain the role of this protein in retinal function and disease. Towards this goal we aim to generate a specific antibody against PRCD and utilize this as a tool to determine PRCD expression patterns in the mouse retina. In parallel, we are exploring the effects of both up- and down-regulation of PRCD on cell viability in retina-derived cell lines. We are also screening for PRCD-binding proteins in the retina. These complementary approaches are expected to advance understanding of retinal structure and function and to shed light on the etiology of RP.

 

Figure Legend:

The human PRCD protein (54 amino acids). The first 20 aa comprising the signal peptide are highlighted. The putative cleavage site and the locations of PRCD mutations identified in RP patients are indicated.

 

Representative Publications

Nevet MJ, Vekslin S, Dizhoor AM, Olshevskaya EV, Tidhar R, Futerman AH, Ben-Yosef T. 2012. Ceramide Kinase-Like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner. Invest. Ophthalmol. Vis. Sci. 53, 4565-74.

 

Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N, Ben-Yosef T. 2010. The identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the etiology of retinitis pigmentosa in humans. J Med Genet 47, 533-537.

 

Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T. 2010. Autosomal recessive severe early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Am J Hum Genet 87, 258-64.

 

 

Email: benyosef@tx.technion.ac.il
The human PRCD protein (54 amino acids)
The human PRCD protein (54 amino acids)
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