Human Molecular Genetics, 2000, Vol. 9, No. 14 2085-2093
© 2000 Oxford University Press
Identification of a novel protein interacting with RPGR
MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
A novel protein, called RPGRIP, has been identified as interacting with the RPGR protein, which is mutated in a severe form of human retinal degeneration, X-linked retinitis pigmentosa (RP3 type). The bovine RPGRIP was identified initially by screening for RPGR-interacting proteins with a bovine retina cDNA library using the yeast two-hybrid system. The specificity of the interaction was confirmed by co-immunoprecipitation of in vitro translated protein and using RPGR mutants. The human RPGRIP gene was isolated and shown to be expressed in retina and testis. Human RPGRIP spans a genomic interval of 34 kb, and consists of 15 exons, some of which are alternatively spliced. It was mapped using monochromosomal and radiation hybrid cell lines to chromosomal region 14q11. The function of RPGRIP is unknown; it shows no homology to proteins of known function, although it is predicted to form two coiled-coil domains at the N-terminus. RPGRIP is a strong candidate gene for causing human retinal degeneration.
+ To whom correspondence should be addressed. Tel: +44 131 467 8437; Fax: +44 131 343 2620; Email: alan.wright@hgu.mrc.ac.uk
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  J. Won, E. Gifford, R. S. Smith, H. Yi, P. A. Ferreira, W. L. Hicks, T. Li, J. K. Naggert, and P. M. Nishina RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis Hum. Mol. Genet., November 15, 2009; 18(22): 4329 - 4339. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Vallespin, D. Cantalapiedra, R. Riveiro-Alvarez, R. Wilke, J. Aguirre-Lamban, A. Avila-Fernandez, M. A. Lopez-Martinez, A. Gimenez, M. Jose Trujillo-Tiebas, C. Ramos, et al. Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray Invest. Ophthalmol. Vis. Sci., December 1, 2007; 48(12): 5653 - 5661. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Vierkotten, R. Dildrop, T. Peters, B. Wang, and U. Ruther Ftm is a novel basal body protein of cilia involved in Shh signalling Development, July 15, 2007; 134(14): 2569 - 2577. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
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]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
X. Lu and P. A. Ferreira Identification of Novel Murine- and Human-Specific RPGRIP1 Splice Variants with Distinct Expression Profiles and Subcellular Localization Invest. Ophthalmol. Vis. Sci., June 1, 2005; 46(6): 1882 - 1890. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
D.-H. Hong, B. S. Pawlyk, M. Adamian, and T. Li Dominant, Gain-of-Function Mutant Produced by Truncation of RPGR Invest. Ophthalmol. Vis. Sci., January 1, 2004; 45(1): 36 - 41. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
Y. Zhao, D.-H. Hong, B. Pawlyk, G. Yue, M. Adamian, M. Grynberg, A. Godzik, and T. Li The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: Subserving RPGR function and participating in disk morphogenesis PNAS, April 1, 2003; 100(7): 3965 - 3970. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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]
|
|
|
|
|
|
F. P. M. Cremers, J. A. J. M. van den Hurk, and A. I. den Hollander Molecular genetics of Leber congenital amaurosis Hum. Mol. Genet., May 15, 2002; 11(10): 1169 - 1176. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Q. Zhang, G. M. Acland, W. X. Wu, J. L. Johnson, S. Pearce-Kelling, B. Tulloch, R. Vervoort, A. F. Wright, and G. D. Aguirre Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration Hum. Mol. Genet., May 1, 2002; 11(9): 993 - 1003. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|