Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma

Molecular Vision

Volumn 13, Issue , 2007, Pages 862-872

  López Martínez, Francisco ^a   López Garrido, María Pilar ^b   Sánchez Sánchez, Francisco ^b   Campos Mollo, Ezequiel ^c   Coca Prados, Miguel ^d   Escribano, Julio ^b  

^a HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

^b University of Castilla La Mancha   (Spain)

^c HOSPITAL VIRGEN DE LOS LIRIOS   (Spain)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; DNA; GENE PRODUCT; GLUTAMINE; HISTIDINE; MYOCILIN; OPTINEURIN; TYROSINE; UNCLASSIFIED DRUG; VALINE;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRAOCULAR HYPERTENSION; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN FUNCTION; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN;

AGE OF ONSET; AMINO ACID SEQUENCE; CELL LINE; CYTOSKELETAL PROTEINS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; EYE PROTEINS; FEMALE; GENE FREQUENCY; GENOME, HUMAN; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OCULAR HYPERTENSION; OPEN READING FRAMES; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROMOTER REGIONS (GENETICS); SPAIN; TRANSCRIPTION FACTOR TFIIIA;

EID: 34250687101     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (63)

1. Quigley HA, Nickells RW, Kerrigan LA, Pease ME, Thibault DJ, Zack DJ. Retinal ganglion cell death in experimental glaucoma and after axotomy occurs by apoptosis. Invest Ophthalmol Vis Sci 1995; 36:774-86.
2. Quigley HA, Katz J, Derick RJ, Gilbert D, Sommer A. An evaluation of optic disc and nerve fiber layer examinations in monitoring progression of early glaucoma damage. Ophthalmology 1992; 99:19-28.
3. Kitazawa Y, Horie T, Aoki S, Suzuki M, Nishioka K. Untreated ocular hypertension. A long-term prospective study. Arch Ophthalmol 1977; 95:1180-4.
4. Quigley HA. Neuronal death in glaucoma. Prog Retin Eye Res 1999; 18:39-57.
5. Moenkemann H, Flammer J, Wunderlich K, Breipohl W, Schild HH, Golubnitschaja O. Increased DNA breaks and up-regulation of both G(1) and G(2) checkpoint genes p21(WAF1/ClP1) and 14-3-3 sigma in circulating leukocytes of glaucoma patients and vasospastic individuals. Amino Acids 2005; 28:199-205.
6. Challa P, Herndon LW, Hauser MA, Broomer BW, Pericak-Vance MA, Ababio-Danso B, Allingham RR. Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. J Glaucoma 2002; 11:416-20.
7. Wiggs JL, Allingham RR, Vollrath D, Jones KH, De La Paz M, Kern J, Patterson K, Babb VL, Del Bono EA, Broomer BW, Pericak-Vance MA, Haines JL. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet 1998; 63:1549-52.
8. Alward WL, Fingert JH, Coote MA, Johnson AT, Lerner SF, Junqua D, Durcan FJ, McCartney PJ, Mackey DA, Sheffield VC, Stone EM. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 1998; 338:1022-7.
9. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275:668-70.
10. Melki R, Belmouden A, Brezin A, Garchon HJ. Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. Hum Mutat 2003; 22:179.
11. Escribano J, Ortego J, Coca-Prados M. Isolation and characterization of cell-specific cDNA clones from a subtractive library of the ocular ciliary body of a single normal human donor: transcription and synthesis of plasma proteins. J Biochem (Tokyo) 1995; 118:921-31.
12. Ortego J, Escribano J, Coca-Prados M. Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin. FEBS Lett 1997; 413:349-53.
13. Huang W, Jaroszewski J, Ortego J, Escribano J, Coca-Prados M. Expression of the TIGR gene in the iris, ciliary body, and trabecular meshwork of the human eye. Ophthalmic Genet 2000; 21:155-69.
14. Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet 2004; 41:647-51.
15. Melki R, Lefort N, Brezin AP, Garchon HJ. Association of a common coding polymorphism (N453S) of the cytochrome P450 1B1 (CYP1B1) gene with optic disc cupping and visual field alteration in French patients with primary open-angle glaucoma. Mol Vis 2005; 11:1012-7.
16. Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay AK, Daulat Thakur SK, Bhaduri G, Sen A, Ray K. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006; 12:399-404.
17. Lopez-Garrido MP, Sanchez-Sanchez F, Lopez-Martinez F, Aroca-Aguilar JD, Blanco-Marchite C, Coca-Prados M, Escribano J. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 2006; 12:748-55.
18. Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295:1077-9.
19. Hodapp E, Parrish RK, and Anderson DR. Clinical decisions in glaucoma. St. Louis: Mosby; 1993.
20. Caetano-Anolles G, Gresshoff PM. Staining nucleic acids with silver: an alternative to radioisotopic and fluorescnece labeling. Promega Notes Magazine 1994; 45:13-20.
21. Lewontin RC. On measures of gametic disequilibrium. Genetics 1988; 120:849-52.
22. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-5.
23. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D. The structure of haplotype blocks in the human genome. Science 2002; 296:2225-9.
24. Liu K, Muse SV. PowerMarker: an integrated analysis environment for genetic marker analysis. Bioinformaties 2005; 21:2128-9.
25. Aroca-Aguilar JD, Sanchez-Sanchez F, Ghosh S, Coca-Prados M, Escribano J. Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227. J Biol Chem 2005; 280:21043-51.
26. Nguyen TD, Chen P, Huang WD, Chen H, Johnson D, Polansky JR. Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem 1998; 273:6341-50.
27. Leung YF, Tam PO, Baum L, Lam DS, Pang CC. TIGR/MYOC proximal promoter GT-repeat polymorphism is not associated with myopia. Hum Mutat 2000; 16:533.
28. Sjostrand A, Tomic L, Larsson LI, Wadelius C. No evidence of association between GT/CA-repeat polymorphismin the GLC1A gene promoter and primary open-angle or exfoliation glaucoma. Acta Ophthalmol Scand 2002; 80:384-6.
29. Fingert JH, Heon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, Mackey DA, Alward WL, Sheffield VC, Stone EM. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999; 8:899-905.
30. Angius A, Spinelli P, Ghilotti G, Casu G, Sole G, Loi A, Totaro A, Zelante L, Gasparini P, Orzalesi N, Pirastu M, Bonomi L. Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma. Arch Ophthalmol 2000; 118:674-9.
31. Adam MF, Belmouden A, Binisti P. Brezin AP, Valtot F, Bechetoille A, Dascotte JC, Copin B, Gomez L, Chaventre A. Bach JF, Garchon HJ. 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.
32. Caballero M, Rowlette LL, Borras T. Altered secretion of a TIGR/MYOC mutant lacking the olfactomedin domain. Biochim Biophys Acta 2000; 1502:447-60.
33. Caballero M, Borras T. Inefficient processing of an olfactomedin-deficient myocilin mutant: potential physiological relevance to glaucoma. Biochem Biophys Res Commun 2001; 282:662-70.
34. Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH, Hageman G, Mullins R, Davidson BL, Kwon YH, Alward WL, Stone EM, Clark AF, Sheffield VC. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet 2001; 10: 117-25.
35. Liu Y, Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet 2004; 13:1193-204.
36. Sohn S, Hur W, Joe MK, Kim JH, Lee ZW, Ha KS, Kee C. Expression of wild-type and truncated myocilins in trabecular meshwork cells: their subcellular localizations and cytotoxicities. Invest Ophthalmol Vis Sci 2002; 43:3680-5.
37. Fan BJ, Wang DY, Fan DS, Tam PO, Lam DS,Tbam CC, Lam CY, Lau TC, Pang CP. SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients. Mol Vis 2005; 11:625-31.
38. Funayama T, Ishikawa K, Ohtake Y, Tanino T, Kurosaka D, Kimura I, Suzuki K, Ideta H, Nakamoto K, Yasuda N, Fujimaki T, Murakami A, Asaoka R, Hotta Y, Tanihara H, Kanamoto T, Mishima H, Fukuchi T, Abe H, Iwata T, Shimada N, Kudoh J, Shimizu N, Mashima Y. Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. Invest Ophthalmol Vis Sci 2004; 45:4359-67.
39. Sripriya S, Nirmaladevi J, George R, Hemamalini A, Baskaran M, Prema R, Ve Ramesh S, Karthiyayini T, Amali J, Job S, Vijaya L, Kumaramanickavel G. OPTN gene: profile of patients with glaucoma from India. Mol Vis 2006; 12:816-20.
40. Alward WL, Kwon YH, Kawase K, Craig JE, Hayreh SS, Johnson AT, Khanna CL, Yamamoto T, Mackey DA, Roos BR, Affatigato LM, Sheffield VC, Stone EM. Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol 2003; 136:904-10.
41. Graul TA, Kwon YH, Zimmerman MB, Kim CS, Sheffield VC, Stone EM, Alward WL. A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation. Am J Ophthalmol 2002; 134:884-90.
42. Allingham RR, Wiggs JL, De La Paz MA, Vollrath D, Tallett DA, Broomer B, Jones KH, Del Bono EA, Kern J, Patterson K, Haines JL, Pericak-Vance MA. Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 1998; 39:2288-95.
43. Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Heon E. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002; 70:448-60.
44. Faucher M, Anctil JL, Rodrigue MA, Duchesne A, Bergeron D, Blondeau P, Cote G, Dubois S, Bergeron J, Arseneault R, Morissette J, Raymond V, Quebec Glaucoma Network. Founder TIGR/myocilin mutations for glaucoma in the Quebec population. Hum Mol Genet 2002; 11:2077-90.
45. Aung T, Yong VH, Chew PT, Seah SK, Gazzard G, Foster PJ, Vithana EN. Molecular analysis of the myocilin gene in Chinese subjects with chronic primary-angle closure glaucoma. Invest Ophthalmol Vis Sci 2005; 46:1303-6.
46. Vazquez CM, Herrero OM, Bastus BM, Perez VD. Mutations in the third exon of the MYOC gene in spanish patients with primary open angle glaucoma. Ophthalmic Genet 2000; 21:109-15.
47. Saura M, Cabana M, Ayuso C, Valverde D. Mutations including the promoter region of myocilin/TIGR gene. Eur J Hum Genet 2005; 13:384-7.
48. Gould DB, Smith RS, John SW. Anterior segment development relevant to glaucoma. Int J Dev Biol 2004; 48:1015-29.
49. Gould DB, Reedy M, Wilson LA, Smith RS, Johnson RL, John SW. Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma. Mol Cell Biol 2006; 26:8427-36.
50. Alward WL, Kwon YH, Khanna CL, Johnson AT, Hayreh SS, Zimmerman MB, Narkiewicz J, Andorf JL, Moore PA, Fingert JH, Sheffield VC, Stone EM. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol 2002; 120:1189-97.
51. Colomb E, Nguyen TD, Bechetoille A, Dascotte JC, Valtot F, Brezin AP, Berkani M, Copin B, Gomez L, Polansky JR, Garchon HJ. 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.
52. Ozgul RK, Bozkurt B, Orcan S, Bulur B, Bagiyeva S, Irkec M, Ogus A. Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma. Mol Vis 2005; 11:916-21.
53. Fan BJ, Leung YF, Pang CP, Fan DS, Wang DY, Tong WC, Tam PO, Chua JK, Lau TC, Lam DS. Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma. J Glaucoma 2004; 13:377-84.
54. Lam DS, Leung YF, Chua JK, Baum L, Fan DS, Choy KW, Pang CP. Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2000; 41:1386-91.
55. Mabuchi F, Yamagata Z, Kashiwagi K, Tang S, Iijima H, Tsukahara S. Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma. Clin Genet 2001; 59:263-8.
56. Wang DY, Fan BJ, Canlas O, Tam PO, Ritch R, Lam DS, Fan DS, Pang CP. Absence of myocilin and optineurin mutations in a large Philippine family with juvenile onset primary open angle glaucoma. Mol Vis 2004; 10:851-6.
57. Pang CP, Leung YF, Fan B, Baum L, Tong WC, Lee WS, Chua JK, Fan DS, Liu Y, Lam DS. TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2002; 43:3231-5.
58. Mukhopadhyay A, Acharya M, Mukherjee S, Ray J, Choudhury S, Khan M, Ray K. Mutations in MYOC gene of Indian primary open angle glaucoma patients. Mol Vis 2002; 8:442-8.
59. Leung YF, Fan BJ, Lam DS, Lee WS, Tam PO, Chua JK, Tham CC, Lai JS, Fan DS, Pang CP. Different optineurin mutation pattern in primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2003; 44:3880-4.
60. Wiggs JL, Auguste J, Allingham RR, Flor JD, Pericak-Vance MA, Rogers K, LaRocque KR, Graham FL, Broomer B, Del Bono E, Haines JL, Hauser M. Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. Arch Ophthalmol 2003; 121:1181-3.
61. Melki R, Belmouden A, Akhayat O, Brezin A, Garchon HJ. The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma. J Med Genet 2003; 40:842-4.
62. Ariani F, Longo I, Frezzotti P. Pescucci C, Mari F, Caporossi A, Frezzotti R, Renieri A. Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma. Graefes Arch Clin Exp Ophthalmol 2006; 244:1077-82.
63. Kirstein L, Cvekl A, Chauhan BK, Tamm ER. Regulation of human myocilin/ TIGR gene transcription in trabecular meshwork cells and astrocytes: role of upstream stimulatory factor. Genes Cells 2000; 5:661-76.