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Dept. of Human Genetics P.O. Box 9101 6500 HB, Nijmegen The Netherlands Geert Grooteplein 10 6525 GA, Nijmegen The Netherlands


Ronald Roepman is a group leader in the Division of Molecular Genetics at the Department of Human Genetics since 2002. His group is studying the functional basis of inherited retinal degenerations using a functional genomics approach.
Dr. R. Roepman

Our research is directed towards the functional characterisation of proteins implicated in inherited retinal disorders such as retinitis pigmentosa and Leber congenital amaurosis. In addition, we study proteins that are disrupted in syndromes with retinal degeneration, such as Usher syndrome (eye and ear disfunction), Senior-Løken syndrome (eye and kidney dysfunction) and Joubert syndrome (brain, eye and kidney dysfunction). It is our aim to dissect the associated protein networks that are localized in the primary cilia of the cells, using yeast two-hybrid methods and proteomics approaches, and analyze their functional features using cell-based assays. Analysis of the complex interplay of these ciliary protein networks will provide essential knowledge of the molecular basis of blinding ciliopathies, that will pave the way for development of therapies.
 
Recent key publications

Arts, H.H., Doherty, D., van Beersum, S.E., Parisi, M.A., Letteboer, S.J.F., Gorden, N.T., Peters, T.A., Märker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F.M., Kroes, H.Y., Wolfrum, U., Brunner, H.G., Cremers, F.P.M., Glass, I.A., Knoers, N.V.A.M., and Roepman, R. (2007). Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat. Genet., 39, 882-888.

den Hollander, A.I., Koenekoop, R.K., Mohamed, M.D., Arts, H.H., et al., Cremers, F.P.M., Inglehearn, C.F., and Roepman, R. (2007). Mutations in LCA5, encoding the novel ciliary protein lebercilin, cause Leber congenital amaurosis. Nat. Genet., 39, 889-895.

Gosens, I, van Wijk, E., Kersten, F.F., Krieger, E., van der Zwaag, B., Märker, T., Letteboer, S.J.F., Dusseljee, S., Peters, T., Spierenburg, H.A., Punte, I.M., Wolfrum, U., Cremers, F.P.M., Kremer, H., and Roepman, R. (2007). MPP1 links the Usher protein network and the Crumbs protein complex in the retina. Hum. Mol. Genet., 16, 1993-2003.
van Wijk, E., van der Zwaag, B., Peters, T.A., Zimmerman, U., Märker, T., te Brinke, H., Kersten, F., Aller, E., Cremers, C.W., Cremers, F.P.M., Wolfrum, U., Knipper, M., Roepman, R.*, and Kremer, H.* (2006). The DFNB31 gene product whirlin connects to the Usher protein network in cochlea and retina by direct association with USH2A and VLGR1. Hum. Mol. Genet., 15, 751-765.*equal senior authors.

Roepman, R., Letteboer, S.J.F., Arts, H.H., van Beersum, S.E.C., Lu, X., Krieger, E., Ferreira, P.A., and Cremers, F.P.M. (2005). Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proc. Natl. Acad. Sci. USA, 102, 18520-18525.