Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (106)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Roepman, R.
Right arrow Articles by Berger, W.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Roepman, R.
Right arrow Articles by Berger, W.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 5, 1035-1041, Copyright © 1996 by Oxford University Press

ARTICLES

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

R Roepman, G van Duijnhoven, T Rosenberg, AJ Pinckers, LM Bleeker-Wagemakers, AA Bergen, J Post, A Beck, R Reinhardt, HH Ropers, FP Cremers and W Berger
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.

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.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Biol. Reprod.Home page
S. Brunner, D. Colman, A. J. Travis, U. F.O. Luhmann, W. Shi, S. Feil, C. Imsand, J. Nelson, C. Grimm, T. Rulicke, et al.
Overexpression of RPGR Leads to Male Infertility in Mice Due to Defects in Flagellar Assembly
Biol Reprod, October 1, 2008; 79(4): 608 - 617.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
D. P. McEwen, R. K. Koenekoop, H. Khanna, P. M. Jenkins, I. Lopez, A. Swaroop, and J. R. Martens
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons
PNAS, October 2, 2007; 104(40): 15917 - 15922.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
H. Prokisch, M. Hartig, R. Hellinger, T. Meitinger, and T. Rosenberg
A Population-Based Epidemiological and Genetic Study of X-Linked Retinitis Pigmentosa
Invest. Ophthalmol. Vis. Sci., September 1, 2007; 48(9): 4012 - 4018.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
I. Gosens, E. van Wijk, F. F.J. Kersten, E. Krieger, B. van der Zwaag, T. Marker, S. J.F. Letteboer, S. Dusseljee, T. Peters, H. A. Spierenburg, et al.
MPP1 links the Usher protein network and the Crumbs protein complex in the retina
Hum. Mol. Genet., August 15, 2007; 16(16): 1993 - 2003.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
M. Garcia-Hoyos, B. Garcia-Sandoval, D. Cantalapiedra, R. Riveiro, I. Lorda-Sanchez, M. J. Trujillo-Tiebas, M. Rodriguez de Alba, J. M. Millan, M. Baiget, C. Ramos, et al.
Mutational Screening of the RP2 and RPGR Genes in Spanish Families with X-Linked Retinitis Pigmentosa.
Invest. Ophthalmol. Vis. Sci., September 1, 2006; 47(9): 3777 - 3782.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
A Moore, E Escudier, G Roger, A Tamalet, B Pelosse, S Marlin, A Clement, M Geremek, B Delaisi, A-M Bridoux, et al.
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
J. Med. Genet., April 1, 2006; 43(4): 326 - 333.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
X. Shu, Z. Zeng, M. S. Eckmiller, P. Gautier, D. Vlachantoni, F. D. C. Manson, B. Tulloch, C. Sharpe, D. C. Gorecki, and A. F. Wright
Developmental and Tissue Expression of Xenopus laevis RPGR
Invest. Ophthalmol. Vis. Sci., January 1, 2006; 47(1): 348 - 356.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
R. Roepman, S. J. F. Letteboer, H. H. Arts, S. E. C. van Beersum, X. Lu, E. Krieger, P. A. Ferreira, and F. P. M. Cremers
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations
PNAS, December 20, 2005; 102(51): 18520 - 18525.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
P. A. Ferreira
Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms
Hum. Mol. Genet., October 15, 2005; 14(suppl_2): R259 - R267.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
H. Khanna, T. W. Hurd, C. Lillo, X. Shu, S. K. Parapuram, S. He, M. Akimoto, A. F. Wright, B. Margolis, D. S. Williams, et al.
RPGR-ORF15, Which Is Mutated in Retinitis Pigmentosa, Associates with SMC1, SMC3, and Microtubule Transport Proteins
J. Biol. Chem., September 30, 2005; 280(39): 33580 - 33587.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
B. S. Pawlyk, A. J. Smith, P. K. Buch, M. Adamian, D.-H. Hong, M. A. Sandberg, R. R. Ali, and T. Li
Gene Replacement Therapy Rescues Photoreceptor Degeneration in a Murine Model of Leber Congenital Amaurosis Lacking RPGRIP
Invest. Ophthalmol. Vis. Sci., September 1, 2005; 46(9): 3039 - 3045.
[Abstract] [Full Text] [PDF]

Home page
 J HeredHome page
J. Aguirre-Hernandez and D. R. Sargan
Evaluation of Candidate Genes in the Absence of Positional Information: A Poor Bet on a Blind Dog!
J. Hered., September 1, 2005; 96(5): 475 - 484.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
N. D. Ebenezer, M. Michaelides, S. A. Jenkins, I. Audo, A. R. Webster, M. E. Cheetham, A. Stockman, E. R. Maher, J. R. Ainsworth, J. R. Yates, et al.
Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families
Invest. Ophthalmol. Vis. Sci., June 1, 2005; 46(6): 1891 - 1898.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
X. Lu, M. Guruju, J. Oswald, and P. A. Ferreira
Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis
Hum. Mol. Genet., May 15, 2005; 14(10): 1327 - 1340.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
X. Shu, A.M. Fry, B. Tulloch, F.D.C. Manson, J.W. Crabb, H. Khanna, A.J. Faragher, A. Lennon, S. He, P. Trojan, et al.
RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin
Hum. Mol. Genet., May 1, 2005; 14(9): 1183 - 1197.
[Abstract] [Full Text] [PDF]

Home page
 Br J OphthalmolHome page
S S Dandekar, N D Ebenezer, C Grayson, J P Chapple, C A Egan, G E Holder, S A Jenkins, F W Fitzke, M E Cheetham, A R Webster, et al.
An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene
Br J Ophthalmol, April 1, 2004; 88(4): 528 - 532.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
A Iannaccone, D K Breuer, X F Wang, S F Kuo, E M Normando, E Filippova, A Baldi, S Hiriyanna, C B MacDonald, F Baldi, et al.
Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation
J. Med. Genet., November 1, 2003; 40(11): e118 - 118.
[Full Text] [PDF]

Home page
 IOVSHome page
K. R. Alexander, C. S. Barnes, and G. A. Fishman
ON-Pathway Dysfunction and Timing Properties of the Flicker ERG in Carriers of X-Linked Retinitis Pigmentosa
Invest. Ophthalmol. Vis. Sci., September 1, 2003; 44(9): 4017 - 4025.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
P. Castagnet, T. Mavlyutov, Y. Cai, F. Zhong, and P. Ferreira
RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons
Hum. Mol. Genet., August 1, 2003; 12(15): 1847 - 1863.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
I Zito, S M Downes, R J Patel, M E Cheetham, N D Ebenezer, S A Jenkins, S S Bhattacharya, A R Webster, G E Holder, A C Bird, et al.
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
J. Med. Genet., August 1, 2003; 40(8): 609 - 615.
[Full Text]

Home page
 IOVSHome page
D.-H. Hong, B. Pawlyk, M. Sokolov, K. J. Strissel, J. Yang, B. Tulloch, A. F. Wright, V. Y. Arshavsky, and T. Li
RPGR Isoforms in Photoreceptor Connecting Cilia and the Transitional Zone of Motile Cilia
Invest. Ophthalmol. Vis. Sci., June 1, 2003; 44(6): 2413 - 2421.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
I. Bader, O. Brandau, H. Achatz, E. Apfelstedt-Sylla, M. Hergersberg, B. Lorenz, B. Wissinger, B. Wittwer, G. Rudolph, A. Meindl, et al.
X-linked Retinitis Pigmentosa: RPGR Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15
Invest. Ophthalmol. Vis. Sci., April 1, 2003; 44(4): 1458 - 1463.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
D.-H. Hong and T. Li
Complex Expression Pattern of RPGR Reveals a Role for Purine-Rich Exonic Splicing Enhancers
Invest. Ophthalmol. Vis. Sci., November 1, 2002; 43(11): 3373 - 3382.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
T. A. Mavlyutov, H. Zhao, and P. A. Ferreira
Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species
Hum. Mol. Genet., August 1, 2002; 11(16): 1899 - 1907.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
F. Bartolini, A. Bhamidipati, S. Thomas, U. Schwahn, S. A. Lewis, and N. J. Cowan
Functional Overlap between Retinitis Pigmentosa 2 Protein and the Tubulin-specific Chaperone Cofactor C
J. Biol. Chem., April 19, 2002; 277(17): 14629 - 14634.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
Z. Yang, N. S. Peachey, D. M. Moshfeghi, S. Thirumalaichary, L. Chorich, Y. Y. Shugart, K. Fan, and K. Zhang
Mutations in the RPGR gene cause X-linked cone dystrophy
Hum. Mol. Genet., March 1, 2002; 11(5): 605 - 611.
[Abstract] [Full Text] [PDF]

Home page
 J Exp BotHome page
B. Heras and B. K. Drobak
PARF-1: an Arabidopsis thaliana FYVE-domain protein displaying a novel eukaryotic domain structure and phosphoinositide affinity
J. Exp. Bot., March 1, 2002; 53(368): 565 - 567.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
U. Schwahn, N. Paland, S. Techritz, S. Lenzner, and W. Berger
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein
Hum. Mol. Genet., May 1, 2001; 10(11): 1177 - 1183.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
R. Roepman, N. Bernoud-Hubac, D. E. Schick, A. Maugeri, W. Berger, H.-H. Ropers, F. P.M. Cremers, and P. A. Ferreira
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
Hum. Mol. Genet., September 1, 2000; 9(14): 2095 - 2105.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
D. Sharon, G. A. P. Bruns, T. L. McGee, M. A. Sandberg, E. L. Berson, and T. P. Dryja
X-Linked Retinitis Pigmentosa: Mutation Spectrum of the RPGR and RP2 Genes and Correlation with Visual Function
Invest. Ophthalmol. Vis. Sci., August 1, 2000; 41(9): 2712 - 2721.
[Abstract] [Full Text]

Home page
 Hum Mol GenetHome page
C. J. Zeiss, K. Ray, G. M. Acland, and G. D. Aguirre
Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3)
Hum. Mol. Genet., March 1, 2000; 9(4): 531 - 537.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
C. J. Zeiss, G. M. Acland, and G. D. Aguirre
Retinal Pathology of Canine X-linked Progressive Retinal Atrophy, the Locus Homologue of RP3
Invest. Ophthalmol. Vis. Sci., December 1, 1999; 40(13): 3292 - 3304.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
M. Linari, M. Ueffing, F. Manson, A. Wright, T. Meitinger, and J. Becker
The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase
PNAS, February 16, 1999; 96(4): 1315 - 1320.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
D. Yan, P. K. Swain, D. Breuer, R. M. Tucker, W. Wu, R. Fujita, A. Rehemtulla, D. Burke, and A. Swaroop
Biochemical Characterization and Subcellular Localization of the Mouse Retinitis Pigmentosa GTPase Regulator (mRpgr)
J. Biol. Chem., July 31, 1998; 273(31): 19656 - 19663.
[Abstract] [Full Text] [PDF]

Home page
 Arch OphthalmolHome page
R. G. Weleber, N. S. Butler, W. H. Murphey, V. C. Sheffield, and E. M. Stone
X-linked Retinitis Pigmentosa Associated With a 2-Base Pair Insertion in Codon 99 of the RP3 Gene RPGR
Arch Ophthalmol, November 1, 1997; 115(11): 1429 - 1435.
[Abstract] [PDF]

Home page
 J. Biol. Chem.Home page
D.-H. Hong, G. Yue, M. Adamian, and T. Li
Retinitis Pigmentosa GTPase Regulator (RPGR)-interacting Protein Is Stably Associated with the Photoreceptor Ciliary Axoneme and Anchors RPGR to the Connecting Cilium
J. Biol. Chem., April 6, 2001; 276(15): 12091 - 12099.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
D.-H. Hong, B. S. Pawlyk, J. Shang, M. A. Sandberg, E. L. Berson, and T. Li
A retinitis pigmentosa GTPase regulator (RPGR)- deficient mouse model for X-linked retinitis pigmentosa (RP3)
PNAS, March 28, 2000; 97(7): 3649 - 3654.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.