Current perspectives on the TIGR/MYOC gene (Myocilin) and glaucoma

Ophthalmology Clinics of North America

Volumn 16, Issue 4, 2003, Pages 515-527

  Polansky, Jon R ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MYOCILIN;

CELL TYPE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; GENE CONTROL; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC VARIABILITY; GLAUCOMA; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRAOCULAR PRESSURE; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; PROTEIN STRUCTURE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; TRABECULAR MESHWORK; VISUAL FIELD;

EID: 0347595522     PISSN: 08961549     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-1549(03)00068-3     Document Type: Review

References (45)

1. Stone EM, Fingert JH, Alward WLM, et al. Identification of a gene that causes primary open angle glaucoma. Science 1997;275:668-70.
2. Polansky JR, Fauss DJ, Chen P, et al. Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product. Ophthalmologica 1997;211:126-39.
3. Nguyen TD, Chen P, Huang WD, et al. Gene structure and properties of an olfactomedin-related glycoprotein, TIGR, cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem 1998;273:6341-50.
4. Adam MF, Belmouden A, Binisti P, et al. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet 1997;6:2091-7.
5. Alward WL, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 I open-angle glaucoma gene. N Engl J Med 1998;338:1022-7.
6. Suzuki Y, Shirato S, Taniguchi F, et al. Mutations in TIGR gene in familial primary open-angle glaucoma in Japan. Am J Hum Genet 1997;61:1202-4.
7. Wiggs JL, Allingham RR, Vollrath D, et al. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open angle glaucoma. Am J Hum Genet 1998;63:1549-51.
8. Stoilova D, Child A, Brice G, et al. Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma. Ophthalmic Genet 1997;18:109-18.
9. Fingert JH, Heon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999;8:899-905.
10. Shimizu S, Lichter PR, Johnson AT, et al. Age-dependent prevalence of mutations at the GLC IA locus in primary open-angle glaucoma. Am J Ophthalmol 2000;130:165-77.
11. Brooks B, Richards JE, Lichter PR. Heredity and glaucoma. In: Tasman W, Jaeger EA, editors. Duane's clinical ophthalmology, vol 3. Philadelphia: Lippincott, Williams and Wilkins; 2001. p. 1- 16.
12. Polansky JR, Nguyen TD. The TIGR gene, pathogenic mechanisms, and other recent advances in glaucoma genetics. Curr Opin Ophthalmol 1998;9:15-23; erratum 2000;10:289.
13. Polansky JR. Perspectives on glaucoma genetics and the trabecular meshwork glucocorticoid response gene. Ophthalmol Clin N Am 2000;13:111-21.
14. Sheffield VC, Stone EM, Alward WL, et al. Genetic linkage of familial open-angle glaucoma to chromosome 1q21-q31. Nat Genet 1993;4:47-50.
15. Lutjen-Drecoll E, May CA, Polansky JR, et al. Localization of the stress proteins alpha B-crystallin and trabecular meshwork inducible glucocorticoid response protein in normal and glaucomatous trabecular meshwork. Invest Ophthalmol Vis Sci 1998;39:517-25.
16. Polansky JR, Fauss DJ, Zimmerman CC. Regulation of TIGR/MYOC gene expression in human trabecular meshwork cells. Eye 2000;14:503-14.
17. Tamm ER, Polansky JR. The TIGR/MYOC gene and glaucoma: opportunities for new understandings. J Glaucoma 2001;10:S9-12.
18. Fautsch MP, Bahler CK, Jewison DJ, et al. Recombinant TIGR/MYOC increases outflow resistance in the human anterior segment. Invest Ophthalmol Vis Sci 2000;41:4163-8.
19. Polansky JR, Fauss DJ, Zimmerman CC. The TIGR gene: prospects for understanding glaucoma mechanisms and environmental/genetic interactions. In: Gramer E, Grehn F, editors. Pathogenesis and risk factors in glaucoma. New York: Springer-Verlag; 1999. p. 85-92.
20. Polansky JR, Zimmerman CC, Lingappa V, et al. Coregulation of TIGR/MYOC and alpha-1 antichymotrypsin (ACT) in human trabecular meshwork cells. Invest Ophthalmol Vis Sci 2001;41(ARVO Suppl):731.
21. Zimmerman CC, Vollrath D, Weitgasser U, et al. Studies of differentially regulated genes in GC-treated confluent HTM cells show evidence for parallel regulation of Alzheimer's-related gene products and TIGR/MYOC. Invest Ophthalmol Vis Sci 2002;42(ARVO Suppl) [Abstract 395].
22. Polansky JR, Juster RP, Spaeth GL. Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time. Clin Genet 2003;64:18-27.
23. Alward WL, Kwon YH, Khanna CL, et al. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol 2002;120:1189-205.
24. Allingham RR, Wiggs JL, De La Paz MA, et al. Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 1998;39:2288-95.
25. Rozsa FW, Shimizu S, Lichter PR, et al. GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol Vis 1998;4:20.
26. Zimmerman CC, Lingappa VR, Richards JE, et al. A trabecular meshwork glucocorticoid response (TIGR) gene mutation affects translocational processing. Mol Vis 1999;23:19.
27. Morissette J, Clepet C, Moisan S, et al. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat Genet 1998;19:319-21.
28. Lam DS, Leung YF, Chua JK, et al. Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2000;41:1386-91.
29. Kim BS, Savinova OV, Reedy MV, et al. Targeted disruption of the Myocilin gene (MYOC) suggests that human glaucoma-causing mutations are gain of function. Mol Cell Biol 2001;21:7707-13.
30. Wiggs JL, Vollrath D. Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC. Arch Ophthalmol 2001;119:1674-8.
31. Garchon HJ. Molecular genetics of glaucoma. In: Gramer E, Grehn F, editors. Pathogenesis and risk factors in glaucoma. New York: Springer-Verlag; 1999. p. 76-83.
32. Colomb E, Nguyen TD, Bechetoille A, et al. Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma. Clin Genet 2001;60:220-5.
33. Copin B, Brezin AP, Valtot F, et al. Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the Myocilin gene. Am J Hum Genet 2002;70:1575-81.
34. Tamm ER, Russell P, Epstein DL, et al. Modulation of Myocilin/ TIGR expression in human trabecular meshwork. Invest Ophthalmol Vis Sci 1999;40:2577-82.
35. Faktorovich EG, Steinberg RH, Yasumurs D, et al. Basic fibroblast growth factor and local injury protect photoreceptors from light damage in the rat. J Neurosci 1992;12:3554-67.
36. Wang YQ, He HY, Zigler Jr JS, et al. bFGF suppresses serum-deprivation-induced apoptosis in a human lens epithelial cell line. Exp Cell Res 1992;249:123-30.
37. Fuks Z, Persnud RS, Alfieri A, et al. Basic fibroblast growth factor protects endothelial cells against radiation-induced programmed cell death in vitro and in vivo. Cancer Res 1994;54:2582-90.
38. Smith KD, Arthurs EP, Sahib N. An association between hypothyroidism and primary open-angle glaucoma. J Ophthalmol 1993;100:1580-4.
39. Duncan KG, Jumper MD, Ribeiro RCJ, et al. Human trabecular meshwork cells as a thyroid hormone target tissue: presence of functional thyroid hormone receptors. Graefes Arch Exp Ophthalmol 1999;237:231-40.
40. Zhou Z, Vollrath D. A cellular assay distinguishes normal and mutant TIGR/myocilin protein. Hum Mol Genet 1999;8:2221-8.
41. Hegde R, Lingappa VR. Regulation of protein biogenesis at the endoplasmic reticulum membrane. Trends Cell Biol 1999;9:132-7.
42. Walters TR, Evans RM, Day D, et al. Prevention of corticosteroid induced intraocular pressure elevation from ISV-205. Arch Ophthalmol 2003; in press.
43. Bayer AU, Keller ON, Ferrari F, et al. Association of glaucoma with neurodegenerative diseases with apoptotic cell death: Alzheimer's disease and Parkinson's disease. Am J Ophthalmol 2002;133:135-7.
44. Bradley JMB, Kelley MJ, Xiang Hong Z, et al. Effects of mechanical stretching on trabecular matrix metalloproteinases. Invest Ophthalmol Vis Sci 2001;42:1505-13.
45. Vincent AL, Billingsley G, Buys Y, et al. Digenic inheritance of early-onset glaucoma CYP1B1, a potential modifier gene. Am J Hum Genet 2002;70:448-60.