In vitro and in vivo study on the secretion of the Gly367Arg mutant myocilin protein

Molecular Vision

Volumn 13, Issue , 2007, Pages 1161-1168

  Kanagavalli, Janakaraj ^a   Pandaranayaka, P J Eswari ^a   Krishnadas, Subbaiah Ramasamy ^a   Krishnaswamy, Sankaran ^a   Sundaresan, Periasamy ^a  

^a MADURAI KAMARAJ UNIVERSITY   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COMPLEMENTARY DNA; GLYCINE; MUTANT PROTEIN; MYOCILIN;

ARTICLE; CELL CULTURE; CELL LYSATE; CELLULAR DISTRIBUTION; CONFOCAL MICROSCOPY; CONFORMATIONAL TRANSITION; CONSENSUS; CONTROLLED STUDY; EXTRACELLULAR SPACE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HYDROPHOBICITY; IN VITRO STUDY; IN VIVO STUDY; INTRACELLULAR SPACE; MOLECULAR DYNAMICS; MOLECULAR MODEL; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN SECRETION; PROTEIN STRUCTURE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SUPERNATANT; TRABECULAR MESHWORK; WESTERN BLOTTING; WILD TYPE;

ARGININE; BLOTTING, WESTERN; CELL LINE; CYTOSKELETAL PROTEINS; EYE PROTEINS; GENE EXPRESSION REGULATION; GLYCINE; GLYCOPROTEINS; HUMANS; HYDROPHOBICITY; MODELS, MOLECULAR; MUTANT PROTEINS; MUTATION; PROTEIN STRUCTURE, SECONDARY; PROTEIN TRANSPORT; RNA, MESSENGER; THERMODYNAMICS; TRABECULAR MESHWORK; TRANSFECTION;

EID: 34447578790     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996; 80:389-93.
2. Balasubramanian D. Molecular and cellular approaches to understand and treat some diseases of the eye. Curr Sci 2002; 82:948-957.
3. Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM, Nichols BE. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 1993; 4:47-50.
4. 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.
5. Polansky JR, Fauss DJ, Chen P, Chen H, Lutjen-Drecoll E, Johnson D, Kurtz RM, Ma ZD, Bloom E, Nguyen TD. Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product. Ophthalmologica 1997; 211:126-39.
6. 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.
7. 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.
8. 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.
9. 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.
10. Tomarev SI, Tamm ER, Chang B. Characterization of the mouse Myoc/Tigr gene. Biochem Biophys Res Commun 1998; 245:887-93.
11. Swiderski RE, Ross JL, Fingert JH, Clark AF, Alward WL, Stone EM, Sheffield VC. Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Invest Ophthalmol Vis Sci 2000; 41:3420-8.
12. Tamm ER, Russell P, Epstein DL, Johnson DH, Piatigorsky J. Modulation of myocilin/TIGR expression in human trabecular meshwork. Invest Ophthalmol Vis Sci 1999; 40:2577-82.
13. 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.
14. Clark AF, Steely HT, Dickerson JE Jr, English-Wright S, Stropki K, McCartney MD, Jacobson N, Shepard AR, Clark JI, Matsushima H, Peskind ER, Leverenz JB, Wilkinson CW, Swiderski RE, Fingert JH, Sheffield VC, Stone EM. Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues. Invest Ophthalmol Vis Sci 2001; 42:1769-80.
15. 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.
16. Joe MK, Sohn S, Hur W, Moon Y, Choi YR, Kee C. Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells. Biochem Biophys Res Commun 2003; 312:592-600.
17. Liu Y, Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet 2004; 13:1193-204.
18. Gobeil S, Rodrigue MA, Moisan S, Nguyen TD, Polansky JR, Morissette J, Raymond V. Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants. Invest Ophthalmol Vis Sci 2004; 45:3560-7.
19. Fingert JH, Heon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Bays 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.
20. Kanagavalli J, Krishnadas SR, Pandaranayaka E, Krishnaswamy S, Sundaresan P. Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients. Mol Vis 2003; 9:606-14.
21. 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.
22. Lindahl E, Hess B, van der Spoel D. GROMACS 3.0: A package for molecular simulation and trajectory analysis. J Mol Mod 2001; 7: 306-317.
23. Liu X, Huang CY, Cai S, Polansky JR, Kaufman PL, Brandt CR. Transformation of human trabecular meshwork cells with SV40 TAg alters promoter utilization. Curr Eye Res 2002; 25:347-53.
24. Rao PV, Allingham RR, Epstein DL. TIGR/myocilin in human aqueous humor. Exp Eye Res 2000; 71:637-41.
25. 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.
26. 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.
27. Fautsch MP, Bahler CK, Vrabel AM, Howell KG, Loewen N, Teo WL, Poeschla EM, Johnson DH. Perfusion of his-tagged eukaryotic myocilin increases outflow resistance in human anterior segments in the presence of aqueous humor. Invest Ophthalmol Vis Sci 2006; 47:213-21.
28. Suzuki Y, Shirato S, Taniguchi F, Ohara K, Nishimaki K, Ohta S. Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am J Hum Genet 1997; 61:1202-4.
29. Taniguchi F, Suzuki Y, Shirato S, Araie M. The Gly367Arg mutation in the myocilin gene causes adult-onset primary open-angle glaucoma. Jpn J Ophthalmol 2000; 44:445-8.
30. Cobb CJ, Scott G, Swingler RJ, Wilson S, Ellis J, MacEwen CJ, McLean WH. Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma. Br J Ophthalmol 2002; 86:191-5.
31. Gobeil S, Letartre L, Raymond V. Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion. Exp Eye Res 2006; 82:1017-29.
32. Kanagavalli J, Pandaranayaka E, Krishnadas SR, Krishnaswamy S, Sundaresan P. A review of genetic and structural understanding of the role of myocilin in primary open angle glaucoma. Indian J Ophthalmol 2004; 52:271-80.