Mutated mouse and human myocilins have similar properties and do not block general secretory pathway

Investigative Ophthalmology and Visual Science

Volumn 47, Issue 1, 2006, Pages 206-212

  Malyukova, Irina ^a   Lee, Hee Sheung ^a   Fariss, Robert N ^a   Tomarev, Stanislav I ^a  

^a NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; MUTANT PROTEIN; MYOCILIN; PROTEIN; PROTEIN OLFACTOMEDIN 1; THROMBOSPONDIN; TISSUE INHIBITOR OF METALLOPROTEINASE 3; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; EYE PROTEIN; GLYCOPROTEIN; OLFACTOMEDIN; SCLEROPROTEIN; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CELL VACUOLE; CELLULAR DISTRIBUTION; COMPARATIVE STUDY; CONTROLLED STUDY; CULTURE TECHNIQUE; ENDOPLASMIC RETICULUM; GENE MUTATION; GENETIC TRANSFECTION; GLAUCOMA; IMMUNOHISTOCHEMISTRY; MOLECULAR CLONING; MUTAGENESIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN SECRETION; SEQUENCE ANALYSIS; WESTERN BLOTTING; ANIMAL; CELL STRAIN COS1; CERCOPITHECUS; GENE VECTOR; GENETICS; GOLGI COMPLEX; HUMAN; METABOLISM; MOLECULAR GENETICS; MOUSE; MUTATION; PHYSIOLOGY; PLASMID; SITE DIRECTED MUTAGENESIS;

AMINO ACID SEQUENCE; ANIMALS; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; COS CELLS; CYTOSKELETAL PROTEINS; ENDOPLASMIC RETICULUM; EXTRACELLULAR MATRIX PROTEINS; EYE PROTEINS; GENETIC VECTORS; GLYCOPROTEINS; GOLGI APPARATUS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; PLASMIDS; TRANSFECTION;

EID: 33644833468     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.05-0220     Document Type: Article

References (51)

1. Stone EM, Fingert JH, Alward WM, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
2. Adam MF, Belmouden A, Binisti P, et al. Recurrent mutations in a single exon encoding the evolutionary conserved olfactomedinhomology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet. 1997;6:2091-2097.
3. Richards JE, Ritch R, Lichter PR, et al. Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. Ophthalmology. 1998;105:1698-1707.
4. Morissette J, Clepet C, Moisan S, et al. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma (Letter). Nat Genet. 1998;19:319-321.
5. 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.
6. Snyder DA, Rivers AM, Yokoe H, et al. Olfactomedin: purification, characterization, and localization of a novel olfactory glycoprotein. Biochemistry. 1991;30:9143-9153.
7. Danielson PE, Forss-Petter S, Battenberg EL, et al. Four structurally distinct neuron-specific olfactomedin-related glycoproteins produced by differential promoter utilization and alternative mRNA splicing from a single gene. J Neurosci Res. 1994;38:468-478.
8. Kulkarni NH, Karavanich CA, Atchley WR, et al. Characterization and differential expression of a human gene family of olfactomedin-related proteins. Genet Res. 2000;76:41-50.
9. Barembaum M, Moreno TA, LaBonne C, et al. Noelin-1 is a secreted glycoprotein involved in generation of the neural crest. Nature Cell Biology. 2000;2:219-225.
10. Tsuda H, Sasai N, Matsuo-Takasaki M, et al. Dorsalization of the neural tube by Xenopus tiarin, a novel patterning factor secreted by the flanking nonneural head ectoderm. Neuron. 2002;33:515-528.
11. Torrado M, Trivedi R, Zinovieva R, et al. Optimedin: a novel olfactomedin-related protein that interacts with myocilin. Hum Mol Genet. 2002;11:1291-1301.
12. Hillier BJ, Vacquier VD. Amassin, an olfactomedin protein, mediates the massive intercellular adhesion of sea urchin coelomocytes. J Cell Biol. 2003;160:597-604.
13. Graveel CR, Harkins-Perry SR, Acevedo LG, et al. Identification and characterization of CRG-L2, a new marker for liver tumor development. Oncogene. 2003;22:1730-1736.
14. Mukhopadhyay A, Talukdar S, Bhattacharjee A, et al. Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders. Mol Vis. 2004;10:304-314.
15. Loria PM, Hodgkin J, Hobert O. A conserved postsynaptic transmembrane protein affecting neuromuscular signaling in Caenorhabditis elegans. J Neurosci. 2004;24:2191-2201.
16. Tomarev SI, Wistow G, Raymond V, et al. Gene expression profile of the human trabecular meshwork. NEIBank sequence tag analysis. Invest Ophthalmol Vis Sci. 2003;44:2588-2596.
17. 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;118:921-931.
18. Karali A, Russell P, Stefani FH, et al. Localization of myocilin/ trabecular meshwork-inducible glucocorticoid response protein in the human eye. Invest Ophthalmol Vis Sci. 2000;41:729-740.
19. Wistow G, Berstein SL, Ray S, et al. Expressed sequence tag analysis of adult human iris for the NEIBank project: steroid-response factors and similarities with retinal pigment epithelium. Mol Vis. 2002;8:185-195.
20. Wistow G, Bernstein SL, Wyatt MK, et al. Expressed sequence tag analysis of human RPE/choroid for the NEIBank project: over 6000 non-redundant transcripts, novel genes and splice variants. Mol Vis. 2002;8:205-220.
21. Swiderski RE, Ross JL, Fingert JH, et al. Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Invest Ophthalmol Vis Sci. 2000;41:3420-3428.
22. Tamm ER. Myocilin and glaucoma: facts and ideas. Prog Retin Eye Res. 2002;21:395-428.
23. 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;41:1386-1391.
24. Wiggs JL, Vollrath D. Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC. Arch Ophthalmol. 2001;119:1674-1678.
25. 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;21:7707-7713.
26. Gould DB, Miceli-Libby L, Savinova OV, et al. Genetically increasing myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. Mol Cell Biol. 2004;24:9019-9025.
27. Alward WL, Kwon YH, Khanna CL, et al. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol. 2002;120:1189-1197.
28. Gong G, Kosoko-Lasaki O, Haynatzki GR, et al. Genetic dissection of myocilin glaucoma. Hum Mol Genet. 2004;13:R91-R102.
29. Jacobson N, Andrews M, Shepard AR, et al. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet. 2001;10:117-125.
30. Gobeil S, Rodrigue MA, Moisan S, et al. Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants. Invest Ophthalmol Vis Sci. 2004;45:3560-3567.
31. Caballero M, Rowlette LL, Borras T. Altered secretion of a TIGR/MYOC mutant lacking the olfactomedin domain. Biochim Biophys Acta. 2000;1502:447-460.
32. Joe MK, Sohn S, Hur W, et al. 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.
33. Liu Y, Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet. 2004;13:1193-1204.
34. Gorr SU, Moore YR. Sorting of a constitutive secretory protein to the regulated secretory pathway of exocrine cells. Biochem Biophys Res Commun. 1999;257:545-548.
35. Mertts M, Garfield S, Tanemato K, et al. Identification of the region in the N-terminal domain responsible for the cytoplasmic localization of Myoc/Tigr and its association with microtubules. Lab Invest. 1999;79:1237-1245.
36. Tomarev SI, Tamm ER, Chang B. Characterization of the mouse Myoc/Tigr gene. Biochem Biophys Res Commun. 1998;245:887-893.
37. Abderrahim H, Jaramillo-Babb VL, Zhou Z, et al. Characterization of the murine TIGR/myocilin gene. Mamm Genome. 1998;9:673-675.
38. Fingert JH, Ying L, Swiderski RE, et al. Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Res. 1998;8:377-384.
39. Fingert JH, Stone EM, Sheffield VC, et al. Myocilin glaucoma. Surv Ophthalmol. 2002;47:547-561.
40. Alward WL, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med. 1998;338:1022-1027.
41. Shepard AR, Jacobson N, Sui R, et al. Characterization of rabbit myocilin: implications for human myocilin glycosylation and signal peptide usage. BMC Genet. 2003;4:5.
42. Della NG, Campochiaro PA, Zack DJ. Localization of TIMP-3 mRNA expression to the retinal pigment epithelium. Invest Ophthalmol Vis Sci. 1996;37:1921-1924.
43. Ruiz A, Brett P, Bok D. TIMP-3 is expressed in the human retinal pigment epithelium. Biochem Biophys Res Commun. 1996;226:467-474.
44. Fariss RN, Apte SS, Olsen BR, et al. Tissue inhibitor of metalloproteinases-3 is a component of Bruch's membrane of the eye. Am J Pathol. 1997;150:323-328.
45. Moreno TA, Bronner-Fraser M. The secreted glycoprotein Noelin-1 promotes neurogenesis in Xenopus. Dev Biol. 2001;240:340-360.
46. Kondo D, Yamamoto T, Yaoita E, et al. Localization of olfactomedin-related glycoprotein isoform (BMZ) in the golgi apparatus of glomerular podocytes in rat kidneys. J Am Soc Nephrol. 2000;11:803-813.
47. Wordinger RJ, Clark AF. Effects of glucocorticoids on the trabecular meshwork: towards a better understanding of glaucoma. Prog Retin Eye Res. 1999;18:629-667.
48. Wentz-Hunter K, Shen X, Okazaki K, et al. Overexpression of myocilin in cultured human trabecular meshwork cells. Exp Cell Res. 2004;297:39-48.
49. Zillig M, Wurm A, Grehn FJ, et al. Overexpression and properties of wild-type and Tyr437His mutated myocilin in the eyes of transgenic mice. Invest Ophthalmol Vis Sci. 2005;46:223-234.
50. Nehls S, Snapp EL, Cole NB, et al. Dynamics and retention of misfolded proteins in native ER membranes. Nat Cell Biol. 2000;2:288-295.
51. Fautsch MP, Johnson DH. Characterization of myocilin-myocilin interactions. Invest Ophthalmol Vis Sci. 2001;42:2324-2331.