| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
1 From the Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami School of Medicine, Florida; 2 Gray Matter Research, Miami, Florida; and the 3 Departments of Ophthalmology and Molecular and Medical Genetics, The Oregon Health Sciences University, Portland.
PURPOSE. To investigate the function and pathogenicity of HRG4, a photoreceptor synaptic protein homologous to the Caenorhabditis elegans neuroprotein UNC119.
METHODS. HRG4 was screened for mutations in patients with various retinopathies, and a transgenic mouse model was constructed and analyzed based on a mutation found.
RESULTS. A heterozygous premature termination codon mutation was found in a 57-year-old woman with late-onset cone–rod dystrophy. In some transgenic mice carrying the identical mutation, age-dependent fundus lesions developed accompanied by electroretinographic changes consistent with defects in photoreceptor synaptic transmission (depressed b-wave, normal c-wave), and retinal degeneration occurred with marked synaptic and possible transsynaptic degeneration.
CONCLUSIONS. HRG4, the only synaptic protein known to be highly enriched in photoreceptor ribbon synapses, is now shown to be pathogenic when mutated.
This article has been cited by other articles:
|
|
 |
|
  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]
|
|
|
|
 |
|
 F. Haeseleer Interaction and Colocalization of CaBP4 and Unc119 (MRG4) in Photoreceptors Invest. Ophthalmol. Vis. Sci., June 1, 2008; 49(6): 2366 - 2375. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Vepachedu, M. M. Gorska, N. Singhania, G. P. Cosgrove, K. K. Brown, and R. Alam Unc119 Regulates Myofibroblast Differentiation through the Activation of Fyn and the p38 MAPK Pathway J. Immunol., July 1, 2007; 179(1): 682 - 690. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
O. P. Kocaoglu, S. R. Uhlhorn, E. Hernandez, R. A. Juarez, R. Will, J.-M. Parel, and F. Manns Simultaneous Fundus Imaging and Optical Coherence Tomography of the Mouse Retina Invest. Ophthalmol. Vis. Sci., March 1, 2007; 48(3): 1283 - 1289. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. Suzuki, M. Yagi, and K. Suzuki Duplicated insertion mutation in the microtubule-associated protein Spag5 (astrin/MAP126) and defective proliferation of immature Sertoli cells in rat hypogonadic (hgn/hgn) testes Reproduction, July 1, 2006; 132(1): 79 - 93. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Mori, Y. Ishiba, S. Kubota, A. Kobayashi, T. Higashide, M. J. McLaren, and G. Inana Truncation Mutation in HRG4 (UNC119) Leads to Mitochondrial ANT-1-Mediated Photoreceptor Synaptic and Retinal Degeneration by Apoptosis. Invest. Ophthalmol. Vis. Sci., April 1, 2006; 47(4): 1281 - 1292. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Castori, E. M. Valente, M. Clementi, A. P. Tormene, F. Brancati, V. Caputo, and B. Dallapiccola A Novel Locus for Autosomal Dominant Cone and Cone-Rod Dystrophies Maps to the 6p Gene Cluster of Retinal Dystrophies Invest. Ophthalmol. Vis. Sci., October 1, 2005; 46(10): 3539 - 3544. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Sokal, W. J. Dupps, M. A. Grassi, J. Brown Jr, L. M. Affatigato, N. Roychowdhury, L. Yang, S. Filipek, K. Palczewski, E. M. Stone, et al. A Novel GCAP1 Missense Mutation (L151F) in a Large Family with Autosomal Dominant Cone-Rod Dystrophy (adCORD) Invest. Ophthalmol. Vis. Sci., April 1, 2005; 46(4): 1124 - 1132. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M Michaelides, G E Holder, D M Hunt, F W Fitzke, A C Bird, and A T Moore A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1 Br. J. Ophthalmol., February 1, 2005; 89(2): 198 - 206. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Norose, F. Aosai, A. Mizota, S. Yamamoto, H.-S. Mun, and A. Yano Deterioration of Visual Function as Examined by Electroretinograms in Toxoplasma gondii-Infected IFN-{gamma}-Knockout Mice Invest. Ophthalmol. Vis. Sci., January 1, 2005; 46(1): 317 - 321. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Ito, M. Nakamura, Y. Nuno, Y. Ohnishi, T. Nishida, and Y. Miyake Novel Complex GUCY2D Mutation in Japanese Family with Cone-Rod Dystrophy Invest. Ophthalmol. Vis. Sci., May 1, 2004; 45(5): 1480 - 1485. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. M. Gorska, S. J. Stafford, O. Cen, S. Sur, and R. Alam Unc119, a Novel Activator of Lck/Fyn, Is Essential for T Cell Activation J. Exp. Med., February 2, 2004; 199(3): 369 - 379. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 O. Cen, M. M. Gorska, S. J. Stafford, S. Sur, and R. Alam Identification of UNC119 as a Novel Activator of SRC-type Tyrosine Kinases J. Biol. Chem., February 28, 2003; 278(10): 8837 - 8845. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Mizota and E. Adachi-Usami Effect of Body Temperature on Electroretinogram of Mice Invest. Ophthalmol. Vis. Sci., December 1, 2002; 43(12): 3754 - 3757. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. J. Klevering, A. Blankenagel, A. Maugeri, F. P. M. Cremers, C. B. Hoyng, and K. Rohrschneider Phenotypic Spectrum of Autosomal Recessive Cone-Rod Dystrophies Caused by Mutations in the ABCA4 (ABCR) Gene Invest. Ophthalmol. Vis. Sci., June 1, 2002; 43(6): 1980 - 1985. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Thaung, K. West, B. J. Clark, L. McKie, J. E. Morgan, K. Arnold, P. M. Nolan, J. Peters, A. J. Hunter, S. D. M. Brown, et al. Novel ENU-induced eye mutations in the mouse: models for human eye disease Hum. Mol. Genet., April 1, 2002; 11(7): 755 - 767. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Kubota, A. Kobayashi, N. Mori, T. Higashide, M. J. McLaren, and G. Inana Changes in Retinal Synaptic Proteins in the Transgenic Model Expressing a Mutant HRG4 (UNC119) Invest. Ophthalmol. Vis. Sci., February 1, 2002; 43(2): 308 - 313. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
