Impairment of protein trafficking upon overexpression and mutation of optineurin

PLoS ONE

Volumn 5, Issue 7, 2010, Pages

  Park, Bumchan ^a   Ying, Hongyu ^a   Shen, Xiang ^a   Park, Jeong Seok ^a   Qiu, Ye ^a   Shyam, Rajalekshmy ^a   Yue, Beatrice Y J T ^a  

^a UNIVERSITY OF ILLINOIS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; EYE PROTEIN; LEUCINE; MYOCILIN; MYOSIN VI; OPTINEURIN; RAB PROTEIN; RAB8 PROTEIN; SMALL INTERFERING RNA; TRANSFERRIN; TRANSFERRIN RECEPTOR; UNCLASSIFIED DRUG; OPTN PROTEIN, HUMAN; TRANSCRIPTION FACTOR IIIA;

ANIMAL CELL; ARTICLE; BIOTINYLATION; CELL SURFACE; CONTROLLED STUDY; ENDOCYTOSIS; GENE CONSTRUCT; GENE MUTATION; GENE OVEREXPRESSION; GENE SILENCING; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; INTERNALIZATION; NONHUMAN; PHENOTYPE; PIGMENT EPITHELIUM; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; PROTEIN TRANSPORT; RAT; RECEPTOR BINDING; RETINA GANGLION CELL; WILD TYPE; ANIMAL; CELL LINE; FLUORESCENCE MICROSCOPY; GENETICS; IMMUNOBLOTTING; METABOLISM; MUTATION; PHYSIOLOGY;

RATTUS;

ANIMALS; CELL LINE; ENDOCYTOSIS; HUMANS; IMMUNOBLOTTING; MICROSCOPY, FLUORESCENCE; MUTATION; PROTEIN TRANSPORT; RATS; RECEPTORS, TRANSFERRIN; RNA, SMALL INTERFERING; TRANSCRIPTION FACTOR TFIIIA; TRANSFERRIN;

EID: 77955376205     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0011547     Document Type: Article

References (54)

1. Allingham RR, Liu Y, Rhee DJ (2009) The genetics of primary open-angle glaucoma: a review. Exp Eye Res 88: 837-844.
2. Kwon YH, Fingert JH, Kuehn MH, Alward WLM (2009) Primary open-angle glaucoma. N Engl J Med 360: 1113-1124.
3. Fan BJ, Tam PO, Choy KW, Wang DY, Lam DS, et al. (2006) Gene mapping for primary open angle glaucoma. Clin Biochem 39: 231-239.
4. Wiggs JL (2007) Genetic etiologies of glaucoma. Arch Ophthalmol 125: 30-37.
5. Wang N, Chintala SK, Fini ME, Schuman JS (2001) Activation of a tissuespecific stress response in the aqueous outflow pathway of the eye defines the glaucoma disease phenotype. Nat Med 7: 304-309.
6. Rezaie T, Child A, Hitchings R, Brice G, Miller L, et al. (2002) Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295: 1077-1079.
7. Hauser MA, Sena DF, Flor J, Walter J, Auguste J, et al. (2006) Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States. J Glaucoma 15: 358-363.
8. Aung T, Rezaie T, Okada K, Viswanathan AC, Child AH, et al. (2005) Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene. Invest Ophthalmol Vis Sci 46: 2816-2822.
9. Li Y, Kang J, Horwitz MS (1998) Interaction of an adenovirus E3 14.7- kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. Mol Cell Biol 18: 1601-1610.
10. Rezaie T, Sarfarazi M (2005) Molecular cloning, genomic structure, and protein characterization of mouse optineurin. Genomics 85: 131-138.
11. Kroeber M, Ohlmann A, Russell P, Tamm ER (2006) Transgenic studies on the role of optineurin in the mouse eye. Exp Eye Res 82: 1075-1085.
12. De Marco N, Buono M, Troise F, Diez-Roux G (2006) Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. J Biol Chem 281: 16147-16156.
13. Schwarmborn K, Weil R, Courtois G, Whiteside ST, Israel A (2000) Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecular involved in a NF-kB-independent pathway. J Biol Chem 275: 22780-22789.
14. Sudhaker C, Nagabushana A, Jain N, Swarup G (2009) NF-kB mediates tumor necrosis factor a-induced expression of optineurin, a negative regulator of NFkB. PLoS One 4: e5114.
15. Zhu G, Wu C, Zhao Y, Ashwell JD (2007) Optineurin negatively regulates TNFa-induced NF-kB activation by competing with NEMO for ubiquitinated RIP. Curr Biol 17: 1438-1443.
16. Laplantine E, Fontan E, Chiaravalli J, Lopez T, Lakisic G, et al. (2009) NEMO specifically recognizes K63-linked poly-ubiquitin chains through a new bipartite ubiquitin-binding domain. EMBO J 28: 2885-2895.
17. Nagabhushana A, Chalasani ML, Jain N, Radha V, Rangaraj N, et al. (2010) Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. BMC Cell Biol 11: 4.
18. Moreland RJ, Dresser ME, Rodgers JS, Roe BA, Conaway JW, et al. (2000) Identification of a transcription factor IIIA-interacting protein. Nucleic Acid Res 28: 1986-1993.
19. Hattula K, Peranen J (2000) FIP-2, a coiled-coil protein, links huntingtin to Rab8 and modulates cellular morphogenesis. Curr Biol 10: 1603-1606.
20. Sahlender DA, Roberts RC, Arden SD, Spudich G, Taylor MJ, et al. (2005) Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis. J Cell Biol 169: 285-295.
21. Chibalina MV, Roberts RC, Arden SD, Kendrick-Jones J, Buss F (2008) Rab8- optineurin-myosin VI: analysis of interactions and functions in the secretory pathway. Methods Enzymol 438: 11-24.
22. del Toro D, Alberch J, La ́zaro-Die ́guez F, Marti ́n-Iba ́n ̃ez R, Xifro ́ X, et al. (2009) Mutant huntingtin impairs post-Golgi trafficking to lysosomes by delocalizing optineurin/Rab8 complex from the Golgi apparatus. Mol Biol Cell 20: 1478-1492.
23. Anborgh PH, Godin C, Pampillo M, Dhami GK, Dale LB, et al. (2005) Inhibition of metabotropic glutamate receptor signaling by the huntingtinbinding protein optineurin. J Biol Chem 280: 34840-34848.
24. Morton S, Hesson L, Peggie M, Cohen P (2008) Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma. FEBS Lett 582: 997-1002.
25. Park BC, Shen X, Samaraweera M, Yue BYJT (2006) Studies of optineurin, a glaucoma gene - Golgi fragmentation and cell death from overexpression of wild-type and mutant optineurin in two ocular cell types. Am J Pathol 169: 1976-1989.
26. Huber LA, Pimplikar S, Parton RG, Virta H, Zerial M, et al. (1993) Rab8, a small GTPase involved in vesicular traffic between the TGN and the basolateral plasma membrane. J Cell Biol 123: 35-45.
27. Velier J, Kim M, Schwarz C, Kim TW, Sapp E, et al. (1998) Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways. Exp Neurol 152: 34-40.
28. Buss F, Spudich G, Kendrick-Jones J (2004) Myosin VI: cellular functions and motor properties. Ann Rev Cell Dev Biol 20: 649-676.
29. Perret E, Lakkaraju A, Deborde S, Schreiner R, Rodriguez-Boulan E (2005) Evolving endosomes: how many varieties and why? Curr Opin Cell Biol 17: 423-434.
30. Conner SD, Schmid SL (2003) Regulated portals of entry into the cell. Nature 422: 37-44.
31. Van Bergen NJ, Wood JPM, Chidlow G, Trounce IA, Casson RJ, et al. (2009) Recharacterization of the RGC-5 retinal ganglion cell line. Invest Ophthalmol Vis Sci 50: 4267-4272.
32. Koga T, Shen X, Park JS, Qiu Y, Park BC, Shyam R, et al. (2010) Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth. Am J Pathol 176: 343-352.
33. Benmerah A, Lamaze C, Beg̀ue B, Schmid SL, Dautry-Varsat A, et al. (1998) AP-2/Eps15 interaction is required for receptor-mediated endocytosis. J Cell Biol 140: 1055-1062.
34. Rezaie T, Waitzman DM, Seeman JL, Kaufman PL, Sarfarazi M (2005) Molecular cloning and expression profiling of optineurin in the rhesus monkey. Invest Ophthalmol Vis Sci 46: 2404-2410.
35. Shen X, Koga T, Park BC, SundarRaj N, Yue BYJT (2008) Rho GTPase and cAMP/PKA signaling mediates myocilin induced alterations in cultured human trabecular meshwork cells. J Biol Chem 283: 603-612.
36. Ying H, Shen X, Park BC, Yue BYJT (2010) Posttranslational modifications, localization, and protein interactions of optineurin, the product of a glaucoma gene. PLoS One 5: e9168.
37. Chalasani ML, Balasubramanian D, Swarup G (2008) Focus on molecules: optineurin. Exp Eye Res 87: 1-2.
38. Fernandez-Sanchez E, Javier Diez-Guerra F, Cubellos B, Zafra F (2008) Mechanisms of endoplasmic-reticulum export of glycine transporter-1 (GLYT1). Biochem J 409: 669-681.
39. Bairoch A, Bucher P, Hofmann K (1997) The PROSITE database, its status in 1997. Nucleic Acids Res 25: 217-221.
40. Guilherme A, Soriano NA, Bose S, Holik J, Bose A, et al. (2004) EHD2 and the novel EH domain binding protein EHBP1 couple endocytosis to the actin cytoskeleton. J Biol Chem 279: 10593-10605.
41. Magadan JG, Barbieri MA, Mesa R, Stahl PD, Mayorga LS (2006) Rab22a regulates the sorting of transferrin to recycling endosomes. Mol Cell Biol 26: 2595-2614.
42. Strick DJ, Elferink LA (2005) Rab15 effector protein: a novel protein for receptor recycling from the endocytic recycling compartment. Mol Biol Cell 16: 5699-5709.
43. Bache KG, Raiborg C, Mehlum A, Stenmark H (2003) STAM and Hrs are subunits of a multivalent ubiquitin-binding complex on early endosomes. J Biol Chem 278: 12513-12521.
44. Morino C, Kato M, Yamamoto A, Mizuno Z, Hayakawa A, et al. (2004) A role of Hrs in endosomal sorting of ligand-stimulated and unstimulated epidermal growth factor receptor. Exp Cell Res 297: 380-391.
45. Park SY, Cable AE, Blair J, Stockstill KE, Shannon KB (2009) BMC Cell Biol 10: 43.
46. Chevalier-Larsen E, Holzbaur ELF (2006) Axonal transport and neurodegenerative disease. Biochim Biophys Acta 1762: 1094-1108.
47. Laifenfeld D, Patzek LJ, McPhie DL, Chen Y, Levites Y, et al. (2007) Rab5 mediates an amyloid precursor protein signaling pathway that leads to apoptosis. J Neurosci 27: 7141-7153.
48. Gonatas NK, Stieber A, Gonatas JO (2006) Fragmentation of the Golgi apparatus in neurodegenerative diseases and cell death. J Neurol Sci 246: 21-30.
49. Chalasani ML, Radha V, Gupta V, Agarwal N, Balasubramanian D, et al. (2007) A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants. Invest Ophthalmol Vis Sci 48: 1607-1614.
50. Vittitow JL, Borras T (2002) Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. Biochem Biophys Res Commun 298: 67-74.
51. Tezel G (2008) TNF-a signaling in glaucomatous neurodegeneration. Prog Brain Res 173: 409-421.
52. Quigley HA, Nickells RW, Kerrigan LA, Pease ME, Thibault DJ, et al. (1995) Retinal ganglion cell death in experimental glaucoma and after axotomy occurs by apoptosis. Invest Ophthalmol Vis Sci 36: 774-786.
53. Volpicelli-Daley LA, Li Y, Zhang CJ, Kahn RA (2005) Isoform-selective effects of the depletion of ADP-ribosylation factors 1-5 on membrane traffic. Mol Biol Cell 16: 4495-4508.
54. Ramjeesingh M, Kidd JF, Huan LJ, Wang Y, Bear CE (2003) Dimeric cystic fibrosis transmembrane conductance regulator exists in the plasma membrane. Biochem J 374: 793-797.