caa a22 4500 397575580 CHVBK 20180308164855.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.1035 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.1035 Positional Cloning of the Gene for X-Linked Retinitis Pigmentosa 3: Homology with the Guanine-Nucleotide-Exchange Factor RCC1 [Elektronische Daten] [Ronald Roepman, Gerard van Duijnhoven, Thomas Rosenberg, Alfred J. L. G. Pinckers, Liesbeth M. Bleeker-Wagemakers, Arthur A. B. Bergen, Jan Post, Alfred Beck, Richard Reinhardt, Hans-Hilger Ropers, Frans P. M. Cremers, Wolfgang Berger] The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-linked RP (XLRP), has been mapped previously to a chromosome interval of less than 1000 kbp between the DXS1110 marker and the OTC locus at Xp21.1-p11.4. Employing a novel technique, ‘YAC Representation Hybridization (YRH)', we have recently identified a small XLRP associated microdeletion in this interval, as well as several putative exons including the 3′ end of a gene that was truncated by the deletion. cDNA library screening and sequencing of a cosmid centromeric to the deletion has now enabled us to identify numerous additional exons and to detect several point mutations in patients with XLRP. The predicted gene product shows homology to RCC1, the guanine-nucleotide-exchange factor (GEF) of the Ras-like GTPase Ran. Our findings suggest that we have cloned the long-sought RP3 gene, and that it may encode the GEF of a retina-specific GTP-binding protein. © 1996 Oxford University Press Roepman Ronald Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut van Duijnhoven Gerard Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut Rosenberg Thomas Department of Ophthalmology, University Hospital Nijmegen, Nijmegen, The Netherlands aut Pinckers Alfred J. L. G. National Eye Clinic for the Visually Impaired, Hellerup, Denmark aut Bleeker-Wagemakers Liesbeth M. Department of Ophthalmogenetics, Ophthalmic Research Institute, Amsterdam, The Netherlands aut Bergen Arthur A. B. Department of Ophthalmogenetics, Ophthalmic Research Institute, Amsterdam, The Netherlands aut Post Jan Clinical Genetics Center, Utrecht, The Netherlands aut Beck Alfred Max-Planck-Institut für Molekulare Genetik, Berlin, Germany aut Reinhardt Richard Max-Planck-Institut für Molekulare Genetik, Berlin, Germany aut Ropers Hans-Hilger Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut Cremers Frans P. M. Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut Berger Wolfgang Max-Planck-Institut für Molekulare Genetik, Berlin, Germany aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 1035-1041 0964-6906 5:7<1035 1996 5 hmg https://doi.org/10.1093/hmg/5.7.1035 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.1035 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Roepman Ronald Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- van Duijnhoven Gerard Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Rosenberg Thomas Department of Ophthalmology, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Pinckers Alfred J. L. G. National Eye Clinic for the Visually Impaired, Hellerup, Denmark aut NATIONALLICENCE 700 1- Bleeker-Wagemakers Liesbeth M. Department of Ophthalmogenetics, Ophthalmic Research Institute, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Bergen Arthur A. B. Department of Ophthalmogenetics, Ophthalmic Research Institute, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Post Jan Clinical Genetics Center, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Beck Alfred Max-Planck-Institut für Molekulare Genetik, Berlin, Germany aut NATIONALLICENCE 700 1- Reinhardt Richard Max-Planck-Institut für Molekulare Genetik, Berlin, Germany aut NATIONALLICENCE 700 1- Ropers Hans-Hilger Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Cremers Frans P. M. Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Berger Wolfgang Max-Planck-Institut für Molekulare Genetik, Berlin, Germany aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 1035-1041 0964-6906 5:7<1035 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford