Advertisement
JBC

HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
QUICK SEARCH:   [advanced]


     

A more recent version of this article appeared on September 30, 2005
This Article
Right arrow Full Text (Accepted Manuscript)
Right arrow All Versions of this Article:
280/39/33580    most recent
M505827200v1
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 PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Khanna, H.
Right arrow Articles by Swaroop, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Khanna, H.
Right arrow Articles by Swaroop, A.
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?

Papers In Press, published online ahead of print July 25, 2005
J. Biol. Chem, 10.1074/jbc.M505827200
Submitted on May 27, 2005
Revised on July 19, 2005
Accepted on July 24, 2005

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

Hemant Khanna, Toby W. Hurd, Concepcion Lillo, Xinhua Shu, Sunil K. Parapuram, Shirley He, Masayuki Akimoto, Alan F. Wright, Ben Margolis, David S. Williams, and Anand Swaroop

Department of Ophthalmology and Human Genetics, University of Michigan, Ann Arbor, MI 48105

Corresponding Author: swaroop{at}umich.edu

Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene account for almost 20% of patients with retinitis pigmentosa. Most mutations are detected in alternatively-spliced RPGR-ORF15 isoform(s), which are primarily but not exclusively expressed in the retina. We show that, in addition to the axoneme, the RPGR-ORF15 protein is localized to the basal bodies of photoreceptor connecting cilium and to the tip and axoneme of sperm flagella. Mass spectrometric analysis of proteins that were immunoprecipitated from the retinal axoneme-enriched fraction using an anti-ORF15 antibody identified two chromosome-associated proteins, Structural Maintenance of Chromosomes (SMC) 1 and SMC3. Using pulldown assays, we demonstrate that the interaction of RPGR with SMC1 and SMC3 is mediated, at least in part, by the RCC1-like domain (RLD) of RPGR. This interaction was not observed with phosphorylation-deficient mutants of SMC1. Both SMC1 and SMC3 localized to the cilia of retinal photoreceptors and MDCK cells, suggesting a broader physiological relevance of this interaction. Additional immunoprecipitation studies revealed the association of RPGR-ORF15 isoform(s) with the intraflagellar transport polypeptide IFT88 as well as microtubule motor proteins, including KIF3A, p150Glued and p50-dynamitin. Inhibition of dynein function by over-expressing p50 abrogated the localization of RPGR-ORF15 to basal bodies. Taken together, these results provide novel evidence for the possible involvement of RPGR-ORF15 in microtubule organization and regulation of transport in primary cilia.


Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
E. van Wijk, F. F.J. Kersten, A. Kartono, D. A. Mans, K. Brandwijk, S. J.F. Letteboer, T. A. Peters, T. Marker, X. Yan, C. W.R.J. Cremers, et al.
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein
Hum. Mol. Genet., January 1, 2009; 18(1): 51 - 64.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
R. W. Wong and G. Blobel
Cohesin subunit SMC1 associates with mitotic microtubules at the spindle pole
PNAS, October 7, 2008; 105(40): 15441 - 15445.
[Abstract] [Full Text] [PDF]

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
 Nucleic Acids ResHome page
C. Spatuzza, M. Schiavone, E. Di Salle, E. Janda, M. Sardiello, G. Fiume, O. Fierro, M. Simonetta, N. Argiriou, R. Faraonio, et al.
Physical and functional characterization of the genetic locus of IBtk, an inhibitor of Bruton's tyrosine kinase: evidence for three protein isoforms of IBtk
Nucleic Acids Res., August 1, 2008; 36(13): 4402 - 4416.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. T. Medina, T. Suzuki, M. E. Alonso, R. M. Duron, I. E. Martinez-Juarez, J. N. Bailey, D. Bai, Y. Inoue, I. Yoshimura, S. Kaneko, et al.
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy
Neurology, May 27, 2008; 70(22_Part_2): 2137 - 2144.
[Abstract] [Full Text] [PDF]

Home page
 Arch OphthalmolHome page
S. Walia, G. A. Fishman, A. Swaroop, K. E. H. Branham, M. Lindeman, M. Othman, and R. G. Weleber
Discordant Phenotypes in Fraternal Twins Having an Identical Mutation in Exon ORF15 of the RPGR Gene
Arch Ophthalmol, March 1, 2008; 126(3): 379 - 384.
[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
T. S. Aleman, A. V. Cideciyan, A. Sumaroka, S. B. Schwartz, A. J. Roman, E. A. M. Windsor, J. D. Steinberg, K. Branham, M. Othman, A. Swaroop, et al.
Inner Retinal Abnormalities in X-linked Retinitis Pigmentosa with RPGR Mutations
Invest. Ophthalmol. Vis. Sci., October 1, 2007; 48(10): 4759 - 4765.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
S. Fan, V. Fogg, Q. Wang, X.-W. Chen, C.-J. Liu, and B. Margolis
A novel Crumbs3 isoform regulates cell division and ciliogenesis via importin {beta} interactions
J. Cell Biol., July 24, 2007; 178(3): 387 - 398.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
J. L. Duncan, Y. Zhang, J. Gandhi, C. Nakanishi, M. Othman, K. E. H. Branham, A. Swaroop, and A. Roorda
High-Resolution Imaging with Adaptive Optics in Patients with Inherited Retinal Degeneration
Invest. Ophthalmol. Vis. Sci., July 1, 2007; 48(7): 3283 - 3291.
[Abstract] [Full Text] [PDF]

Home page
 J. Cell Sci.Home page
D. M. Baron, K. S. Ralston, Z. P. Kabututu, and K. L. Hill
Functional genomics in Trypanosoma brucei identifies evolutionarily conserved components of motile flagella
J. Cell Sci., February 1, 2007; 120(3): 478 - 491.
[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
 Hum Mol GenetHome page
B. Chang, H. Khanna, N. Hawes, D. Jimeno, S. He, C. Lillo, S. K. Parapuram, H. Cheng, A. Scott, R. E. Hurd, et al.
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
Hum. Mol. Genet., June 1, 2006; 15(11): 1847 - 1857.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
 All ASBMB Journals   Molecular and Cellular Proteomics 
 Journal of Lipid Research   ASBMB Today 
Copyright © 2005 by the American Society for Biochemistry and Molecular Biology.
Advertisement
spacer
Advertisement
Advertisement