In vitro and in vivo characterization of disulfide bond use in myocilin complex formation

Molecular Vision

Volumn 10, Issue , 2004, Pages 417-425

  Fautsch, Michael P ^a   Vrabel, Anne M ^a   Peterson, Stefanie L ^a   Johnson, Douglas H ^a  

^a Mayo Clinic   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; CYSTEINE; HEMAGGLUTININ; MYOCILIN; POLYCLONAL ANTIBODY; CYTOSKELETON PROTEIN; DISULFIDE; EYE PROTEIN; GLYCOPROTEIN; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN;

AMINO ACID SUBSTITUTION; AQUEOUS HUMOR; ARTICLE; CASE REPORT; COMPLEX FORMATION; DISULFIDE BOND; GENE MUTATION; GLAUCOMA; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; IN VITRO STUDY; IN VIVO STUDY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEPARATION TECHNIQUE; SITE DIRECTED MUTAGENESIS; TRABECULAR MESHWORK; WESTERN BLOTTING; CELL CULTURE; CHEMISTRY; GENETICS; METABOLISM; PLASMID;

AQUEOUS HUMOR; BLOTTING, WESTERN; CELLS, CULTURED; CYSTEINE; CYTOSKELETAL PROTEINS; DISULFIDES; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EYE PROTEINS; GLAUCOMA; GLYCOPROTEINS; HUMANS; MUTAGENESIS, SITE-DIRECTED; PLASMIDS; TRABECULAR MESHWORK;

EID: 3843105895     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (46)

1. 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.
2. 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.
3. 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.
4. 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.
5. 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.
6. Michels-Rautenstrauss KG, Mardin CY, Budde WM, Liehr T, Polansky J, Nguyen T, Timmerman V, Van Broeckhoven C, Naumann GO, Pfeiffer RA, Rautenstrauss BW. Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis. Hum Genet 1998; 102:103-6.
7. Richards JE, Ritch R, Lichter PR, Rozsa FW, Stringham HM, Caronia RM, Johnson D, Abundo GP, Willcockson J, Downs CA, Thompson DA, Musarella MA, Gupta N, Othman MI, Torrez DM, Herman SB, Wong DJ, Higashi M, Boehnke M. Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. Ophthalmology 1998; 105:1698-707.
8. Stoilova D, Child A, Brice G, Desai T, Barsoum-Homsy M, Ozdemir N, Chevrette L, Adam MF, Garchon HJ, Pitts Crick R, Sarfarazi M. Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. J Med Genet 1998; 35:989-92.
9. Yokoyama A, Nao-i N, Date Y, Nakazato M, Chumann H, Chihara E, Sawada A, Matsukura S. Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma. Jpn J Ophthalmol 1999; 43:85-8.
10. Taniguchi F, Suzuki Y, Shirato S, Ohta S. Clinical phenotype of a Japanese family with primary open angle glaucoma caused by a Pro370Leu mutation in the MYOC/TIGR gene. Jpn J Ophthalmol 1999; 43:80-4.
11. Kennan AM, Mansergh FC, Fingert JH, Clark T, Ayuso C, Kenna PF, Humphries P, Farrar GJ. A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma. J Med Genet 1998; 35:957-60.
12. Kubota R, Noda S, Wang Y, Minoshima S, Asakawa S, Kudoh J, Mashima Y, Oguchi Y, Shimizu N. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics 1997; 41:360-9.
13. 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.
14. Fingert JH, Ying L, Swiderski RE, Nystuen AM, Arbour NC, Alward WL, Sheffield VC, Stone EM. Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Res 1998; 8:377-84.
15. Tomarev SI, Tamm ER, Chang B. Characterization of the mouse Myoc/Tigr gene. Biochem Biophys Res Commun 1998; 245:887-93.
16. Takahashi H, Noda S, Imamura Y, Nagasawa A, Kubota R, Mashima Y, Kudoh J, Oguchi Y, Shimizu N. Mouse myocilin (Myoc) gene expression in ocular tissues. Biochem Biophys Res Commun 1998; 248:104-9.
17. Swiderski RE, Ying L, Cassell MD, Alward WL, Stone EM, Sheffield VC. Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain. Brain Res Mol Brain Res 1999; 68:64-72.
18. Wang X, Johnson DH. mRNA in situ hybridization of TIGR/MYOC in human trabecular meshwork. Invest Ophthalmol Vis Sci 2000; 41:1724-9.
19. Karali A, Russell P, Stefani FH, Tamm ER. Localization of myocilin/trabecular meshwork - inducible glucocorticoid response protein in the human eye. Invest Ophthalmol Vis Sci 2000; 41:729-40.
20. Lutjen-Drecoll E, May CA, Polansky JR, Johnson DH, Bloemendal H, Nguyen TD. 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.
21. O'Brien ET, Ren X, Wang Y. Localization of myocilin to the golgi apparatus in Schlemm's canal cells. Invest Ophthalmol Vis Sci 2000; 41:3842-9.
22. Clark AF, Kawase K, English-Wright S, Lane D, Steely HT, Yamamoto T, Kitazawa Y, Kwon YH, Fingert JH, Swiderski RE, Mullins RF, Hageman GS, Alward WL, Sheffield VC, Stone EM. Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head. FASEB J 2001; 15:1251-3.
23. Russell P, Tamm ER, Grehn FJ, Picht G, Johnson M. The presence and properties of myocilin in the aqueous humor. Invest Ophthalmol Vis Sci 2001; 42:983-6.
24. Rao PV, Allingham RR, Epstein DL. TIGR/myocilin in human aqueous humor. Exp Eye Res 2000; 71:637-41.
25. 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.
26. Fautsch MP, Johnson DH. Characterization of myocilin-myocilin interactions. Invest Ophthalmol Vis Sci 2001; 42:2324-31.
27. Torrado M, Trivedi R, Zinovieva R, Karavanova I, Tomarev SI. Optimedin: a novel olfactomedin-related protein that interacts with myocilin. Hum Mol Genet 2002; 11:1291-301.
28. Filla MS, Liu X, Nguyen TD, Polansky JR, Brandt CR, Kaufman PL, Peters DM. In vitro localization of TIGR/MYOC in trabecular meshwork extracellular matrix and binding to fibronectin. Invest Ophthalmol Vis Sci 2002; 43:151-61.
29. Wentz-Hunter K, Ueda J, Yue BY. Protein interactions with myocilin. Invest Ophthalmol Vis Sci 2002; 43:176-82.
30. Ueda J, Wentz-Hunter K, Yue BY. Distribution of myocilin and extracellular matrix components in the juxtacanalicular tissue of human eyes. Invest Ophthalmol Vis Sci 2002; 43:1068-76.
31. 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.
32. Mukhopadhyay A, Gupta A, Mukherjee S, Chaudhuri K, Ray K. Did myocilin evolve from two different primordial proteins? Mol Vis 2002; 8:271-9 .
33. de Vasconcellos JP, de Melo MB, Schimiti R, Costa FF, Costa VP. Penetrance and phenotype of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma. J Glaucoma 2003; 12:104-7.
34. Fautsch MP, Bahler CK, Jewison DJ, Johnson DH. Recombinant TIGR/MYOC increases outflow resistance in the human anterior segment. Invest Ophthalmol Vis Sci 2000; 41:4163-8.
35. Wei Z, Swiedler SJ. Functional analysis of conserved cysteines in heparan sulfate N-deacetylase-N-sulfotransferases. J Biol Chem 1999; 274:1966-70.
36. Tsuboi S, Kotani Y, Ogawa K, Hatanaka T, Yatsushiro S, Otsuka M, Moriyama Y. An intramolecular disulfide bridge as a catalytic switch for serotonin N-acetyltransferase. J Biol Chem 2002; 277:44229-35.
37. Ruoppolo M, Vinci F, Klink TA, Raines RT, Marino G. Contribution of individual disulfide bonds to the oxidative folding of ribonuclease A. Biochemistry 2000; 39:12033-42.
38. Scholl DJ, Wells JN. Serine and alanine mutagenesis of the nine native cysteine residues of the human A (1) adenosine receptor. Biochem Pharmacol 2000; 60:1647-54.
39. Hober S, Uhlen M, Nilsson B. Disulfide exchange folding of disulfide mutants of insulin-like growth factor I in vitro. Biochemistry 1997; 36:4616-22.
40. Horton RM, Cai ZL, Ho SN, Pease LR. Gene splicing by overlap extension: tailor-made genes using the polymerase chain reaction. Biotechniques 1990; 8:528-35.
41. Shepard AR, Jacobson N, Fingert JH, Stone EM, Sheffield VC, Clark AF. Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells. Invest Ophthalmol Vis Sci 2001; 42:3173-81.
42. Caballero M, Rowlette LL, Borras T. Altered secretion of a TIGR/MYOC mutant lacking the olfactomedin domain. Biochim Biophys Acta 2000; 1502:447-60.
43. Caballero M, Gonzalez P, Russell P, Rowlette LLS, Borras T. Adenoviral gene transfer of a single domain of the TIGR/MYOC protein to the human perfused anterior segment cultures. Invest Ophthalmol Vis Sci 1999; 40:S597.
44. Liu Y, Vollrath D. Mutant myocilin is degraded by the ubiquitin proteasome system and forms aggresome. ARVO Annual Meeting; 2003 May 4-9; Fort Lauderdale, FL.
45. Ahn K, Sohn S, Kee C. Unfolded protein response induced by the accumulation of mutant myocilins in trabecular meshwork cells. ARVO Annual Meeting; 2003 May 4-9; Fort Lauderdale, FL.
46. 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.