Skip Navigation


Human Molecular Genetics Advance Access originally published online on March 16, 2005
Human Molecular Genetics 2005 14(9):1183-1197; doi:10.1093/hmg/ddi129
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Supplementary Material
Right arrow All Versions of this Article:
14/9/1183    most recent
ddi129v1
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 (22)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Shu, X.
Right arrow Articles by Wright, A.F.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Shu, X.
Right arrow Articles by Wright, A.F.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2005. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

X. Shu1, A.M. Fry2, B. Tulloch1, F.D.C. Manson1,{dagger}, J.W. Crabb3, H. Khanna4, A.J. Faragher2, A. Lennon1, S. He4, P. Trojan5, A. Giessl5, U. Wolfrum5, R. Vervoort1, A. Swaroop4 and A.F. Wright1,*

1MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK, 2Department of Biochemistry, University of Leicester, Leicester LE1 7RH, UK, 3Cole Eye Institute and Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH, USA, 4Departments of Ophthalmology and Human Genetics, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA and 5Institute for Zoology, Johannes Gutenberg-University, Mainz, Germany

* To whom correspondence should be addressed. Email: alan.wright{at}hgu.mrc.ac.uk

Received November 14, 2004; Revised February 18, 2005; Accepted March 10, 2005

The ORF15 isoform of RPGR (RPGRORF15) and RPGR interacting protein 1 (RPGRIP1) are mutated in a variety of retinal dystrophies but their functions are poorly understood. Here, we show that in cultured mammalian cells both RPGRORF15 and RPGRIP1 localize to centrioles. These localizations are resistant to the microtubule destabilizing drug nocodazole and persist throughout the cell cycle. RPGR and RPGRIP1 also co-localize at basal bodies in cells with primary cilia. The C-terminal (C2) domain of RPGRORF15 (ORF15C2) is highly conserved across 13 mammalian species, suggesting that it is a functionally important domain. Using matrix-assisted laser desorption ionization time-of-flight mass spectrometry, we show that this domain interacts with a 40 kDa shuttling protein nucleophosmin (NPM). The RPGRORF15–NPM interaction was confirmed by (i) yeast two-hybrid analyses; (ii) binding of both recombinant and native HeLa cell NPM to RPGRORF15 fusion proteins in vitro; (iii) co-immunoprecipitation of native NPM, RPGRORF15 and RPGRIP1 from bovine retinal extracts and of native HeLa cell NPM and transfected RPGRORF15 from cultured cells and (iv) co-localization of NPM and RPGRORF15 at metaphase centrosomes in cultured cells. NPM is a multifunctional protein chaperone that shuttles between the nucleoli and the cytoplasm and has been associated with licensing of centrosomal division. RPGR and RPGRIP1 join a growing number of centrosomal proteins involved in human disease.

{dagger} Present address: Centre for Molecular Medicine, The University of Manchester, Oxford Road, Manchester M13 9PT, UK.


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
 Mol. Biol. CellHome page
L. C. Keller, S. Geimer, E. Romijn, J. Yates III, I. Zamora, and W. F. Marshall
Molecular Architecture of the Centriole Proteome: The Conserved WD40 Domain Protein POC1 Is Required for Centriole Duplication and Length Control
Mol. Biol. Cell, February 1, 2009; 20(4): 1150 - 1166.
[Abstract] [Full Text] [PDF]

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
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
 BloodHome page
A. Galietta, R. H. Gunby, S. Redaelli, P. Stano, C. Carniti, A. Bachi, P. W. Tucker, C. J. Tartari, C.-J. Huang, E. Colombo, et al.
NPM/ALK binds and phosphorylates the RNA/DNA-binding protein PSF in anaplastic large-cell lymphoma
Blood, October 1, 2007; 110(7): 2600 - 2609.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
W. Wu, J. E. Baxter, S. L. Wattam, D. G. Hayward, M. Fardilha, A. Knebel, E. M. Ford, E. F. da Cruz e Silva, and A. M. Fry
Alternative Splicing Controls Nuclear Translocation of the Cell Cycle-regulated Nek2 Kinase
J. Biol. Chem., September 7, 2007; 282(36): 26431 - 26440.
[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 page
 Hum Mol GenetHome page
X. Shu, B. Tulloch, A. Lennon, D. Vlachantoni, X. Zhou, C. Hayward, and A. F. Wright
Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5
Hum. Mol. Genet., May 15, 2006; 15(10): 1680 - 1689.
[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]


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.