| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
J Biol Chem, Vol. 273, Issue 31, 19656-19663, July 31, 1998
From the Departments of The retinitis pigmentosa
GTPase regulator (RPGR) gene
encodes a protein homologous to the RCC1 guanine nucleotide exchange factor and is mutated in 20% of patients with X-linked retinitis pigmentosa. We have characterized the full-length and variant cDNAs
corresponding to the mouse homolog of the RPGR gene
(mRpgr). Comparison with the human cDNA revealed
sequence identity primarily in the region of RCC1 homology repeats. As
in humans, the mRpgr gene maps within 50 kilobases from the
5'-end of the Otc gene. The mRpgr transcripts are detected
as early as E7 during embryonic development and are expressed widely in
the adult mice. Variant mRpgr isoforms are generated by alternative
splicing and by utilizing two in-frame initiation codons. The products
of mRpgr cDNAs migrate aberrantly in SDS-polyacrylamide gels
because of a charged domain. In transfected COS cells, the mRpgr
protein is isoprenylated and is localized in the Golgi complex. This
subcellular distribution is not observed after treatments with
brefeldin A or mevastatin and when the conserved isoprenylation
sequence (CTIL) at the carboxyl terminus is deleted or mutagenized.
These studies suggest a role for the mRpgr protein in Golgi transport
and form the basis for investigating the mechanism of photoreceptor
degeneration in X-linked retinitis pigmentosa.
Biochemical Characterization and Subcellular Localization of the
Mouse Retinitis Pigmentosa GTPase Regulator (mRpgr)
,,,,
,§
Ophthalmology,
§ Human Genetics, and Radiation Oncology, University
of Michigan, Ann Arbor, Michigan 48105
Copyright © 1998 by The American Society for Biochemistry and Molecular Biology, Inc.
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
|
|
 |
|
  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]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
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]
|
|
|
|
 |
|
 D.-H. Hong, B. S. Pawlyk, M. Adamian, M. A. Sandberg, and T. Li A Single, Abbreviated RPGR-ORF15 Variant Reconstitutes RPGR Function In Vivo Invest. Ophthalmol. Vis. Sci., February 1, 2005; 46(2): 435 - 441. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Zhang, X.-h. Liu, K. Zhang, C.-K. Chen, J. M. Frederick, G. D. Prestwich, and W. Baehr Photoreceptor cGMP Phosphodiesterase {delta} Subunit (PDE{delta}) Functions as a Prenyl-binding Protein J. Biol. Chem., January 2, 2004; 279(1): 407 - 413. [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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
 |
|
 J. T. Stickney and J. E. Buss Murine Guanylate-binding Protein: Incomplete Geranylgeranyl Isoprenoid Modification of an Interferon-gamma -inducible Guanosine Triphosphate-binding Protein Mol. Biol. Cell, July 1, 2000; 11(7): 2191 - 2200. [Abstract] [Full Text]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
S. I. Candille, M. T. Pardue, M. A. McCall, N. S. Peachey, and R. G. Gregg Localization of the Mouse nob (no b-wave) Gene to the Centromeric Region of the X Chromosome Invest. Ophthalmol. Vis. Sci., October 1, 1999; 40(11): 2748 - 2751. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
P. K. Swain, D. Hicks, A. J. Mears, I. J. Apel, J. E. Smith, S. K. John, A. Hendrickson, A. H. Milam, and A. Swaroop Multiple Phosphorylated Isoforms of NRL Are Expressed in Rod Photoreceptors J. Biol. Chem., September 21, 2001; 276(39): 36824 - 36830. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
| All ASBMB Journals | Molecular and Cellular Proteomics |
| Journal of Lipid Research | ASBMB Today |
