Research Interests:
The genetic basis for hereditary vision and hearing loss
Short Synopsis:
Work in my lab is focused on the genetic basis for hereditary vision and hearing loss. I study human patients and mouse models for human disease. My work is based on various molecular biology techniques, and is a combination of classic techniques in human genetics (mapping, sequencing), cell biology, and working with mice.
1. Auslender, N., Sharon, D., Abbasi, A.H., Garzozi, H.J., Banin, E., and Ben-Yosef, T. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement in the Yemenite Jewish population. Invest. Ophthalmol. Vis. Sci. 48: 5431-5438 (2007).
2. Nevet, M.J., Shalev, S.A., Zlotogora, J., Mazzawi. N., and Ben-Yosef, T. 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(8): 533-537 (2010).
3. Collin, R.W.J., Safieh, C., Littink, K.W., Shalev, S.A., Garzozi, H.J., Rizel, L., Abbasi, A.H., Cremers, F.P.M., den Hollander, A.I., Klevering, B.J., Ben-Yosef, T. Mutations in C2ORF71 cause autosomal recessive retinitis pigmentosa. Am J Hum Genet 86(5):783-8 (2010).
4. Dvir, L., Srour, G., Abu-Ras, R., Miller, B., Shalev, S.A., and Ben-Yosef, T. 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(2):258-64 (2010).
5. Nevet, M.J., Vekslin, S., Dizhoor, A.M., Olshevskaya, E.V., Tidhar, R., Futerman, A.H., and Ben-Yosef, T. Ceramide Kinase-Like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner. Invest. Ophthalmol. Vis. Sci. 53(8):4565-74 (2012).