Human Molecular Genetics, Vol 6, 2091-2097, Copyright © 1997 by Oxford University Press
MF Adam, A Belmouden, P Binisti, AP Brezin, F Valtot, A Bechetoille, JC Dascotte, B Copin, L Gomez, A Chaventre, JF Bach and HJ Garchon
Primary open-angle glaucoma (POAG) is a highly prevalent cause of
irreversible blindness which associates cupping of the optic disc and
alteration of the visual field, elevation of intraocular pressure being a
major risk factor. Provided diagnosis is made at an early stage, treatments
are available to prevent visual impairment. A locus, GLC1A, has been mapped
on chromosome 1q23-q25 in several families affected with juvenile-onset
POAG (JOAG) and also in some families affected with juvenile and middle-age
onset POAG. Recently, three mutations of the TIGR (Trabecular
meshwork-Induced Glucocorticoid Response) gene were shown to be responsible
for the disease in several American families and in unrelated POAG
patients. We now describe five new mutations in eight French families. All
mutations known to date appear to concentrate in the evolutionarily
conserved C-terminal domain of TIGR which bears homology to frog
olfactomedin, an extracellular matrix glycoprotein of the olfactory
epithelium, to rat and human neuronal olfactomedin-related proteins and to
F11C3.2, a protein from Caenorhabditis elegans . Moreover, this conserved
domain of TIGR is encoded by a single exon to which mutation screening
could be limited. Surprisingly, the TIGR message, which is abundantly
transcribed in the trabecular meshwork and also in the ciliary body and the
sclera, is not expressed in the optic nerve whose degeneration is, however,
the primary lesion of POAG.
ARTICLES
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma
INSERM U25, Hopital Necker, 161 rue de Sevres, 75743 Paris cedex 15, France.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  H.-S. Kwon, H.-S. Lee, Y. Ji, J. S. Rubin, and S. I. Tomarev Myocilin Is a Modulator of Wnt Signaling Mol. Cell. Biol., April 15, 2009; 29(8): 2139 - 2154. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. H. Kwon, J. H. Fingert, M. H. Kuehn, and W. L.M. Alward Primary Open-Angle Glaucoma N. Engl. J. Med., March 12, 2009; 360(11): 1113 - 1124. [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Zhou, O. Grinchuk, and S. I. Tomarev Transgenic Mice Expressing the Tyr437His Mutant of Human Myocilin Protein Develop Glaucoma Invest. Ophthalmol. Vis. Sci., May 1, 2008; 49(5): 1932 - 1939. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Sanchez-Sanchez, F. Martinez-Redondo, J. D. Aroca-Aguilar, M. Coca-Prados, and J. Escribano Characterization of the Intracellular Proteolytic Cleavage of Myocilin and Identification of Calpain II as a Myocilin-processing Protease J. Biol. Chem., September 21, 2007; 282(38): 27810 - 27824. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. H.-F. Yam, K. Gaplovska-Kysela, C. Zuber, and J. Roth Sodium 4-Phenylbutyrate Acts as a Chemical Chaperone on Misfolded Myocilin to Rescue Cells from Endoplasmic Reticulum Stress and Apoptosis Invest. Ophthalmol. Vis. Sci., April 1, 2007; 48(4): 1683 - 1690. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. W. Hewitt, S. L. Bennett, J. H. Fingert, R. L. Cooper, E. M. Stone, J. E. Craig, and D. A. Mackey The Optic Nerve Head in Myocilin Glaucoma Invest. Ophthalmol. Vis. Sci., January 1, 2007; 48(1): 238 - 243. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. K. Iyengar The Quest for Genes Causing Complex Traits in Ocular Medicine: Successes, Interpretations, and Challenges Arch Ophthalmol, January 1, 2007; 125(1): 11 - 18. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. H.-F. Yam, K. Gaplovska-Kysela, C. Zuber, and J. Roth Aggregated Myocilin Induces Russell Bodies and Causes Apoptosis: Implications for the Pathogenesis of Myocilin-Caused Primary Open-Angle Glaucoma Am. J. Pathol., January 1, 2007; 170(1): 100 - 109. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Funayama, Y. Mashima, Y. Ohtake, K. Ishikawa, N. Fuse, N. Yasuda, T. Fukuchi, A. Murakami, Y. Hotta, N. Shimada, et al. SNPs and Interaction Analyses of Noelin 2, Myocilin, and Optineurin Genes in Japanese Patients with Open-Angle Glaucoma Invest. Ophthalmol. Vis. Sci., December 1, 2006; 47(12): 5368 - 5375. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. B. Gould, M. Reedy, L. A. Wilson, R. S. Smith, R. L. Johnson, and S. W. M. John Mutant Myocilin Nonsecretion In Vivo Is Not Sufficient To Cause Glaucoma Mol. Cell. Biol., November 15, 2006; 26(22): 8427 - 8436. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Malyukova, H.-S. Lee, R. N. Fariss, and S. I. Tomarev Mutated Mouse and Human Myocilins Have Similar Properties and Do Not Block General Secretory Pathway Invest. Ophthalmol. Vis. Sci., January 1, 2006; 47(1): 206 - 212. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. P. Fautsch, C. K. Bahler, A. M. Vrabel, K. G. Howell, N. Loewen, W. L. Teo, E. M. Poeschla, and D. H. Johnson Perfusion of His-Tagged Eukaryotic Myocilin Increases Outflow Resistance in Human Anterior Segments in the Presence of Aqueous Humor Invest. Ophthalmol. Vis. Sci., January 1, 2006; 47(1): 213 - 221. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
O. Grinchuk, Z. Kozmik, X. Wu, and S. Tomarev The Optimedin Gene Is a Downstream Target of Pax6 J. Biol. Chem., October 21, 2005; 280(42): 35228 - 35237. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. M. Hardy, E. A. Hoffman, P. Gonzalez, B. S. McKay, and W. D. Stamer Extracellular Trafficking of Myocilin in Human Trabecular Meshwork Cells J. Biol. Chem., August 12, 2005; 280(32): 28917 - 28926. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. D. Aroca-Aguilar, F. Sanchez-Sanchez, S. Ghosh, M. Coca-Prados, and J. Escribano Myocilin Mutations Causing Glaucoma Inhibit the Intracellular Endoproteolytic Cleavage of Myocilin between Amino Acids Arg226 and Ile227 J. Biol. Chem., June 3, 2005; 280(22): 21043 - 21051. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Gobeil, M.-A. Rodrigue, S. Moisan, T. D. Nguyen, J. R. Polansky, J. Morissette, and V. Raymond Intracellular Sequestration of Hetero-oligomers Formed by Wild-Type and Glaucoma-Causing Myocilin Mutants Invest. Ophthalmol. Vis. Sci., October 1, 2004; 45(10): 3560 - 3567. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Obazawa, Y. Mashima, N. Sanuki, S. Noda, J. Kudoh, N. Shimizu, Y. Oguchi, Y. Tanaka, and T. Iwata Analysis of Porcine Optineurin and Myocilin Expression in Trabecular Meshwork Cells and Astrocytes from Optic Nerve Head Invest. Ophthalmol. Vis. Sci., August 1, 2004; 45(8): 2652 - 2659. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Liu and D. Vollrath Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma Hum. Mol. Genet., June 1, 2004; 13(11): 1193 - 1204. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Gong, O. Kosoko-Lasaki, G. R. Haynatzki, and M. R. Wilson Genetic dissection of myocilin glaucoma Hum. Mol. Genet., April 1, 2004; 13(90001): R91 - 102. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. A. Mackey, D. L. Healey, J. H. Fingert, M. A. Coote, T. L. Wong, C. H. Wilkinson, P. J. McCartney, J. L. Rait, A. P. de Graaf, E. M. Stone, et al. Glaucoma Phenotype in Pedigrees With the Myocilin Thr377Met Mutation Arch Ophthalmol, August 1, 2003; 121(8): 1172 - 1180. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Bruttini, I. Longo, P. Frezzotti, R. Ciappetta, A. Randazzo, N. Orzalesi, E. Fumagalli, A. Caporossi, R. Frezzotti, and A. Renieri Mutations in the Myocilin Gene in Families With Primary Open-angle Glaucoma and Juvenile Open-angle Glaucoma Arch Ophthalmol, July 1, 2003; 121(7): 1034 - 1038. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. R. Lo, L. L. Rowlette, M. Caballero, P. Yang, M. R. Hernandez, and T. Borras Tissue Differential Microarray Analysis of Dexamethasone Induction Reveals Potential Mechanisms of Steroid Glaucoma Invest. Ophthalmol. Vis. Sci., February 1, 2003; 44(2): 473 - 485. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Borras, T. V. Morozova, S. L. Heinsohn, R. F. Lyman, T. F. C. Mackay, and R. R. H. Anholt Transcription Profiling in Drosophila Eyes That Overexpress the Human Glaucoma-Associated Trabecular Meshwork-Inducible Glucocorticoid Response Protein/Myocilin (TIGR/MYOC) Genetics, February 1, 2003; 163(2): 637 - 645. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Ishibashi, Y. Takagi, K. Mori, S. Naruse, H. Nishino, B. Y. J. T. Yue, and S. Kinoshita cDNA Microarray Analysis of Gene Expression Changes Induced by Dexamethasone in Cultured Human Trabecular Meshwork Cells Invest. Ophthalmol. Vis. Sci., December 1, 2002; 43(12): 3691 - 3697. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. P. Pang, Y. F. Leung, B. Fan, L. Baum, W. C. Tong, W. S. Lee, J. K. H. Chua, D. S. P. Fan, Y. Liu, and D. S. C. Lam TIGR/MYOC Gene Sequence Alterations in Individuals with and without Primary Open-Angle Glaucoma Invest. Ophthalmol. Vis. Sci., October 1, 2002; 43(10): 3231 - 3235. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Faucher, J.-L. Anctil, M.-A. Rodrigue, A. Duchesne, D. Bergeron, P. Blondeau, G. Cote, S. Dubois, J. Bergeron, R. Arseneault, et al. Founder TIGR/myocilin mutations for glaucoma in the Quebec population Hum. Mol. Genet., September 1, 2002; 11(18): 2077 - 2090. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. L. M. Alward, Y. H. Kwon, C. L. Khanna, A. T. Johnson, S. S. Hayreh, M. B. Zimmerman, J. Narkiewicz, J. L. Andorf, P. A. Moore, J. H. Fingert, et al. Variations in the Myocilin Gene in Patients With Open-Angle Glaucoma Arch Ophthalmol, September 1, 2002; 120(9): 1189 - 1197. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Torrado, R. Trivedi, R. Zinovieva, I. Karavanova, and S. I. Tomarev Optimedin: a novel olfactomedin-related protein that interacts with myocilin Hum. Mol. Genet., May 16, 2002; 11(11): 1291 - 1301. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. L. Green and T. E. Klein A Multidomain TIGR/Olfactomedin Protein Family with Conserved Structural Similarity in the N-terminal Region and Conserved Motifs in the C-terminal Region Mol. Cell. Proteomics, May 1, 2002; 1(5): 394 - 403. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Borras, L. L. S. Rowlette, E. R. Tamm, J. Gottanka, and D. L. Epstein Effects of Elevated Intraocular Pressure on Outflow Facility and TIGR/MYOC Expression in Perfused Human Anterior Segments Invest. Ophthalmol. Vis. Sci., January 1, 2002; 43(1): 33 - 40. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. S. Filla, X. Liu, T. D. Nguyen, J. R. Polansky, C. R. Brandt, P. L. Kaufman, and D. M. Peters In Vitro Localization of TIGR/MYOC in Trabecular Meshwork Extracellular Matrix and Binding to Fibronectin Invest. Ophthalmol. Vis. Sci., January 1, 2002; 43(1): 151 - 161. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Ahmed, M. Torrado, E. Johnson, J. Morrison, and S. I. Tomarev Changes in mRNA Levels of the Myoc/Tigr Gene in the Rat Eye after Experimental Elevation of Intraocular Pressure or Optic Nerve Transection Invest. Ophthalmol. Vis. Sci., December 1, 2001; 42(13): 3165 - 3172. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. R. Shepard, N. Jacobson, J. H. Fingert, E. M. Stone, V. C. Sheffield, and A. F. Clark Delayed Secondary Glucocorticoid Responsiveness of MYOC in Human Trabecular Meshwork Cells Invest. Ophthalmol. Vis. Sci., December 1, 2001; 42(13): 3173 - 3181. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. S. Kim, O. V. Savinova, M. V. Reedy, J. Martin, Y. Lun, L. Gan, R. S. Smith, S. I. Tomarev, S. W. M. John, and R. L. Johnson Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function Mol. Cell. Biol., November 15, 2001; 21(22): 7707 - 7713. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. L. Wiggs and D. Vollrath Molecular and Clinical Evaluation of a Patient Hemizygous for TIGR/MYOC Arch Ophthalmol, November 1, 2001; 119(11): 1674 - 1678. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. P. Fautsch and D. H. Johnson Characterization of Myocilin-Myocilin Interactions Invest. Ophthalmol. Vis. Sci., September 1, 2001; 42(10): 2324 - 2331. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. F. Clark, H. T. Steely, J. E. Dickerson Jr, S. English-Wright, K. Stropki, M. D. McCartney, N. Jacobson, A. R. Shepard, J. I. Clark, H. Matsushima, et al. Glucocorticoid Induction of the Glaucoma Gene MYOC in Human and Monkey Trabecular Meshwork Cells and Tissues Invest. Ophthalmol. Vis. Sci., July 1, 2001; 42(8): 1769 - 1780. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Jacobson, M. Andrews, A. R. Shepard, D. Nishimura, C. Searby, J. H. Fingert, G. Hageman, R. Mullins, B. L. Davidson, Y. H. Kwon, et al. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor Hum. Mol. Genet., January 1, 2001; 10(2): 117 - 125. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. H. Fingert, A. F. Clark, J. E. Craig, W. L. M. Alward, G. R. Snibson, M. McLaughlin, L. Tuttle, D. A. Mackey, V. C. Sheffield, and E. M. Stone Evaluation of the Myocilin (MYOC) Glaucoma Gene in Monkey and Human Steroid-Induced Ocular Hypertension Invest. Ophthalmol. Vis. Sci., January 1, 2001; 42(1): 145 - 152. [Abstract] [Full Text]
|
|
|
|
|
|
M. P. Fautsch, C. K. Bahler, D. J. Jewison, and D. H. Johnson Recombinant TIGR/MYOC Increases Outflow Resistance in the Human Anterior Segment Invest. Ophthalmol. Vis. Sci., December 1, 2000; 41(13): 4163 - 4168. [Abstract] [Full Text]
|
|
|
|
|
|
E. T. O’Brien, X.-o. Ren, and Y. Wang Localization of Myocilin to the Golgi Apparatus in Schlemm's Canal Cells Invest. Ophthalmol. Vis. Sci., November 1, 2000; 41(12): 3842 - 3849. [Abstract] [Full Text]
|
|
|
|
|
|
R. E. Swiderski, J. L. Ross, J. H. Fingert, A. F. Clark, W. L. M. Alward, E. M. Stone, and V. C. Sheffield Localization of MYOC Transcripts in Human Eye and Optic Nerve by In Situ Hybridization Invest. Ophthalmol. Vis. Sci., October 1, 2000; 41(11): 3420 - 3428. [Abstract] [Full Text]
|
|
|
|
|
|
D. S. C. Lam, Y. F. Leung, J. K. H. Chua, L. Baum, D. S. P. Fan, K. W. Choy, and C. P. Pang Truncations in the TIGR Gene in Individuals with and without Primary Open-Angle Glaucoma Invest. Ophthalmol. Vis. Sci., May 1, 2000; 41(6): 1386 - 1391. [Abstract] [Full Text]
|
|
|
|
|
|
A. Angius, P. Spinelli, G. Ghilotti, G. Casu, G. Sole, A. Loi, A. Totaro, L. Zelante, P. Gasparini, N. Orzalesi, et al. Myocilin Gln368stop Mutation and Advanced Age as Risk Factors for Late-Onset Primary Open-Angle Glaucoma Arch Ophthalmol, May 1, 2000; 118(5): 674 - 679. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. L. Wiggs, R. R. Allingham, A. Hossain, J. Kern, J. Auguste, E. A. DelBono, B. Broomer, F. L. Graham, M. Hauser, M. Pericak-Vance, et al. Genome-wide scan for adult onset primary open angle glaucoma Hum. Mol. Genet., April 12, 2000; 9(7): 1109 - 1117. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. P. C VASCONCELLOS, M. B MELO, V. P COSTA, D. M L TSUKUMO, D. S BASSÈRES, S. BORDIN, S. T O SAAD, and F. F COSTA Novel mutation in the MYOC gene in primary open angle glaucoma patients J. Med. Genet., April 1, 2000; 37(4): 301 - 303. [Full Text]
|
|
|
|
|
|
A. Booth, T. Nguyen, J. Polansky, and P. Russell TIGR and Stretch in the Trabecular Meshwork Invest. Ophthalmol. Vis. Sci., July 1, 1999; 40(8): 1888 - 1889. [Full Text] [PDF]
|
|
|
|
 |
|
 J. M. Babik, E. Adams, Y. Tone, P. J. Fairchild, M. Tone, and H. Waldmann Expression of Murine IL-12 Is Regulated by Translational Control of the p35 Subunit J. Immunol., April 1, 1999; 162(7): 4069 - 4078. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Angius, E. De Gioia, A. Loi, M. Fossarello, G. Sole, N. Orzalesi, F. Grignolo, A. Cao, and M. Pirastu A Novel Mutation in the GLC1A Gene Causes Juvenile Open-angle Glaucoma in 4 Families From the Italian Region of Puglia Arch Ophthalmol, June 1, 1998; 116(6): 793 - 797. [Abstract] [Full Text] [PDF]
|
|