Dual localization of wild-type myocilin in the endoplasmic reticulum and extracellular compartment likely occurs due to its incomplete secretion

Molecular Vision

Volumn 15, Issue , 2009, Pages 545-556

  Sohn, Seongsoo ^a   Jee, Myung Kuk ^b,d   Kim, Tae Eun ^b   Im, Ji Eum ^b   Choi, Young Ran ^b   Park, Hwayong ^c   Kee, Changwon ^a,b  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Samsung Medical Center   (South Korea)

^c Korea Institute of Oriental Medicine (KIOM)   (South Korea)

^d NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MYOCILIN;

ADENOVIRUS; ADULT; AMINO ACID SEQUENCE; ARTICLE; CHEMICAL ANALYSIS; ENDOPLASMIC RETICULUM; EXTRACELLULAR SPACE; FEMALE; GLYCOSYLATION; GOLGI COMPLEX; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; IMMUNOPRECIPITATION; MOLECULAR WEIGHT; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN SECRETION; TRABECULAR MESHWORK; TWO DIMENSIONAL GEL ELECTROPHORESIS; VIRUS RECOMBINANT; WESTERN BLOTTING; WILD TYPE;

CELL LINE; CELL PROLIFERATION; CYTOSKELETAL PROTEINS; ENDOPLASMIC RETICULUM; EXTRACELLULAR SPACE; EYE PROTEINS; FEMALE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; GREEN FLUORESCENT PROTEINS; HEAT-SHOCK PROTEINS; HUMANS; MOLECULAR CHAPERONES; PEPTIDES; PROTEIN FOLDING; RECOMBINANT FUSION PROTEINS; SECRETORY PATHWAY; TIME FACTORS; TRABECULAR MESHWORK; UP-REGULATION;

EID: 65249131769     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (47)

1. Shields MB, Ritch R, Krupin T. Classification of the glaucoma. In: Ritch R, Shields MB, Krupin T, editors. The Glaucomas. Vol 2. St. Louis (MO): Mosby-Year Book; 1996. p. 717-25.
2. Shields MB Open-angle glaucomas. In: Shields MB, editor. Textbook of Glaucoma. 4th ed. Baltimore: Williams and Wilkins; 1998. p. 153-76.
3. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996; 80:389-93.
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. 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.
6. 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.
7. 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.
8. 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.
9. Gong G, Kosoko-Lasaki O, Haynatzki GR, Wilson MR. Genetic dissection of myocilin glaucoma. Hum Mol Genet 2004; 13 Spec No 1:R91-102.
10. Fingert JH, Stone EM, Sheffield VC, Alward WL. Myocilin glaucoma. Surv Ophthalmol 2002; 47:547-61.
11. Wiggs JL, Vollrath D. Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC. Arch Ophthalmol 2001; 119:1674-8.
12. 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.
13. Kim BS, Savinova OV, Reedy MV, Martin J, Lun Y, Gan L, Smith RS, Tomarev SI, John SW, Johnson RL. Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function. Mol Cell Biol 2001; 21:7707-13.
14. 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.
15. 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. Nonsecretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet 2001; 10:117-25.
16. 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.
17. 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.
18. Liu Y, Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet 2004; 13:1193-204.
19. 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.
20. Lutjen-Drecoll E, Shimizu T, Rohrbach M, Rohen JW. Quantitative analysis of 'plaque material' in the inner- and outer wall of Schlemm's canal in normal- and glaucomatous eyes. Exp Eye Res 1986; 42:443-55.
21. Alvarado J, Murphy C, Juster R. Trabecular meshwork cellularity in primary open-angle glaucoma and nonglaucomatous normals. Ophthalmology 1984; 91:564-79.
22. 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.
23. 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.
24. 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.
25. Shepard AR, Jacobson N, Sui R, Steely HT, Lotery AJ, Stone EM, Clark AF. Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage. BMC Genet 2003; 4:5.
26. 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.
27. Hardy KM, Hoffman EA, Gonzalez P, McKay BS, Stamer WD. Extracellular trafficking of myocilin in human trabecular meshwork cells. J Biol Chem 2005; 280:28917-26.
28. Rao PV, Allingham RR, Epstein DL. TIGR/myocilin in human aqueous humor. Exp Eye Res 2000; 71:637-41.
29. 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.
30. Danpure CJ. How can the products of a single gene be localized to more than one intracellular compartment? Trends Cell Biol 1995; 5:230-8.
31. Mizuochi T, Amano J, Kobata A. New evidence of the substrate specificity of endo-beta-N-acetylglucosaminidase D. J Biochem 1984; 95:1209-13.
32. Nguyen TD, Chen P, Huang WD, Chen H, Johnson D, Polansky JR. Gene structure and properties of TIGR, an olfactomedinrelated glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem 1998; 273:6341-50.
33. Polansky JR, Kurtz RM, Alvarado JA, Weinreb RN, Mitchell MD. Eicosanoid production and glucocorticoid regulatory mechanisms in cultured human trabecular meshwork cells. Prog Clin Biol Res 1989; 312:113-38.
34. Sanchez-Sanchez F, Martinez-Redondo F, Aroca-Aguilar JD, Coca-Prados M, Escribano J. Characterization of the intracellular proteolytic cleavage of myocilin and identification of calpain II as a myocilin-processing protease. J Biol Chem 2007; 282:27810-24.
35. O'Brien TE, Metheney CD, Polansky JR. Immunofluorescence method for quantifying the trabecular meshwork glucocorticoid response (TIGR) protein in trabecular meshwork and Schlemm's canal cells. Curr Eye Res 1999; 19:517-24.
36. Rao RV, Bredesen DE. Misfolded proteins, endoplasmic reticulum stress and neurodegeneration. Curr Opin Cell Biol 2004; 16:653-62.
37. Bredesen DE, Rao RV, Mehlen P. Cell death in the nervous system. Nature 2006; 443:796-802.
38. Kong TH. Post-transcriptional modification of the gene genetically linked to juvenile open-angle glaucoma; novel transcripts in human ocular tissues. Gene 2001; 280:115-22.
39. Kubota R, Kudoh J, Mashima Y, Asakawa S, Minoshima S, Hejtmancik JF, Oguchi Y, Shimizu N. Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A). Biochem Biophys Res Commun 1998; 242:396-400.
40. Nilsson T, Warren G. Retention and retrieval in the endoplasmic reticulum and the Golgi apparatus. Curr Opin Cell Biol 1994; 6:517-21.
41. Lee MC, Miller EA, Goldberg J, Orci L, Schekman R. Bidirectional protein transport between the ER and Golgi. Annu Rev Cell Dev Biol 2004; 20:87-123.
42. Zhou Z, Vollrath D. A cellular assay distinguishes normal and mutant TIGR/myocilin protein. Hum Mol Genet 1999; 8:2221-8.
43. Schubert U, Anton LC, Gibbs J, Norbury CC, Yewdell JW, Bennink JR. Rapid degradation of a large fraction of newly synthesized proteins by proteasomes. Nature 2000; 404:770-4.
44. Gould DB, Miceli-Libby L, Savinova OV, Torrado M, Tomarev SI, Smith RS, John SW. Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. Mol Cell Biol 2004; 24:9019-25.
45. Zillig M, Wurm A, Grehn FJ, Russell P, Tamm ER. Overexpression and properties of wild-type and Tyr437His mutated myocilin in the eyes of transgenic mice. Invest Ophthalmol Vis Sci 2005; 46:223-34.
46. Wentz-Hunter K, Shen X, Okazaki K, Tanihara H, Yue BY. Overexpression of myocilin in cultured human trabecular meshwork cells. Exp Cell Res 2004; 297:39-48.
47. Shen X, Koga T, Park BC, SundarRaj N, Yue BY. Rho GTPase and cAMP/ protein kinase A signaling mediates myocilininduced alterations in cultured human trabecular meshwork cells. J Biol Chem 2008; 283:603-12.