Endoplasmic reticulum stress in vertebrate mutant rhodopsin models of retinal degeneration

Advances in Experimental Medicine and Biology

Volumn 801, Issue , 2014, Pages 585-592

  Kroeger, Heike ^a   Lavail, Matthew M ^b   Lin, Jonathan H ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Endoplasmic reticulum; P23H rhodopsin; Photoreceptors; Retinitis pigmentosa; Rhodopsin; Unfolded Protein Response

Indexed keywords

RHODOPSIN;

ENDOPLASMIC RETICULUM STRESS; IN VITRO STUDY; IN VIVO STUDY; NONHUMAN; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RETINA DEGENERATION; SIGNAL TRANSDUCTION; TRANSGENIC ANIMAL; TRANSGENIC MOUSE; TRANSGENIC RAT; TRANSGENIC XENOPUS LAEVIS; UNFOLDED PROTEIN RESPONSE; ANIMAL; ARTICLE; DISEASE MODEL; ENDOPLASMIC RETICULUM; GENETICS; HUMAN; MOUSE; PATHOPHYSIOLOGY; PHYSIOLOGY; RAT; SPECIES DIFFERENCE; VERTEBRATE; XENOPUS LAEVIS;

ANIMALS; DISEASE MODELS, ANIMAL; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; HUMANS; MICE; MICE, TRANSGENIC; RATS; RATS, TRANSGENIC; RETINAL DEGENERATION; RHODOPSIN; SPECIES SPECIFICITY; UNFOLDED PROTEIN RESPONSE; VERTEBRATES; XENOPUS LAEVIS;

EID: 84904800936     PISSN: 00652598     EISSN: 22148019     Source Type: Book Series    
DOI: 10.1007/978-1-4614-3209-8_74     Document Type: Chapter

References (34)

1. Sung CH, Chuang JZ (2010) The cell biology of vision. J Cell Biol 190(6):953-963
2. Sung CH, Schneider BG, Agarwal N, Papermaster DS, Nathans J (1991) Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 88(19):8840-8844
3. Kaushal S, Khorana HG (1994) Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa. BioChemistry 33(20):6121-6128
4. Illing ME, Rajan RS, Bence NF, Kopito RR (2002) A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system. J Biol Chem 277(37):34150-34160
5. Saliba RS, Munro PM, Luthert PJ, Cheetham ME (2002) The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation. J Cell Sci 115(Pt 14):2907-2918
6. Lin JH, Li H, Yasumura D, Cohen HR, Zhang C, Panning B, Shokat KM, LaVail MM, Walter P (2007) IRE1 signaling affects cell fate during the unfolded protein response. Science 318(5852):944-949
7. Chiang WC, Messah C, Lin JH (2012) IRE1 directs proteasomal and lysosomal degradation of misfolded rhodopsin. Mol Biol Cell 23(5):758-770
8. Naash MI, Hollyfield JG, al-Ubaidi MR, Baehr W (1993) Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. Proc Natl Acad Sci USA 90(12):5499-5503
9. Frederick JM, Krasnoperova NV, Hoffmann K, Church-Kopish J, Ruther K, Howes K, Lem J, Baehr W (2001) Mutant rhodopsin transgene expression on a null background. Invest Ophthalmol Vis Sci 42(3):826-833
10. Wu TH, Ting TD, Okajima TI, Pepperberg DR, Ho YK, Ripps H, Naash MI (1998) Opsin localization and rhodopsin photochemistry in a transgenic mouse model of retinitis pigmentosa. Neuroscience 87(3):709-717
11. Tam BM, Moritz OL (2006) Characterization of rhodopsin P23H-induced retinal degeneration in a Xenopus laevis model of retinitis pigmentosa. Invest Ophthalmol Vis Sci 47(8):3234-3241
12. Lee D, Geller S, Walsh N, Valter K, Yasumura D, Matthes M, LaVail M, Stone J (2003) Photoreceptor degeneration in Pro23His and S334ter transgenic rats. Adv Exp Med Biol 533:297-302
13. Machida S, Kondo M, Jamison JA, Khan NW, Kononen LT, Sugawara T, Bush RA, Sieving PA (2000) P23H rhodopsin transgenic rat: correlation of retinal function with histopathology. Invest Ophthalmol Vis Sci 41(10):3200-3209
14. Steinberg RH, Flannery JG, Naash MI, Oh P, Matthes MT, Yasumura D, Lau-Villacorta C, Chen J, LaVail MM (1996) Transgenic rat models of inherited retinal degeneration caused by mutant opsin genes [ARVO Abstract]. Invest Ophthalmol Vis Sci 37:S 698 (Abstract nr 3190)
15. Gorbatyuk MS, Knox T, LaVail MM, Gorbatyuk OS, Noorwez SM, Hauswirth WW, Lin JH, Muzyczka N, Lewin AS (2010) Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp78. Proc Natl Acad Sci USA 107(13):5961-5966
16. Vasireddy V, Chavali VR, Joseph VT, Kadam R, Lin JH, Jamison JA, Kompella UB, Reddy GB, Ayyagari R (2011) Rescue of photoreceptor degeneration by curcumin in transgenic rats with P23H rhodopsin mutation. PLoS One 6(6):e21193
17. Chiang WC, Hiramatsu N, Messah C, Kroeger H, Lin JH (2012) Selective activation of ATF6 and PERK endoplasmic reticulum stress signaling pathways prevent mutant rhodopsin accumulation. Invest Ophthalmol Vis Sci 53(11):7159-7166
18. Pennesi ME, Nishikawa S, Matthes MT, Yasumura D, LaVail MM (2008) The relationship of photoreceptor degeneration to retinal vascular development and loss in mutant rhodopsin transgenic and RCS rats. Exp Eye Res 87(6):561-570
19. Concepcion F, Mendez A, Chen J (2002) The carboxyl-terminal domain is essential for rhodopsin transport in rod photoreceptors. Vision Res 42(4):417-426
20. Green ES, Menz MD, LaVail MM, Flannery JG (2000) Characterization of rhodopsin missorting and constitutive activation in a transgenic rat model of retinitis pigmentosa. Invest Ophthalmol Vis Sci 41(6):1546-1553
21. Lee ES, Flannery JG (2007) Transport of truncated rhodopsin and its effects on rod function and degeneration. Invest Ophthalmol Vis Sci 48(6):2868-2876
22. Chen J, Makino CL, Peachey NS, Baylor D, Simon MI (1995) Mechanisms of rhodopsin inactivation in vivo as revealed by COOH-terminal truncation mutant. Science 267:374-377
23. Sung C-H, Davenport CM, Nathans J (1993) Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. J Biol Chem 268:26645-26649
24. Kroeger H, Messah C, Ahern K, Gee J, Joseph V, Matthes MT, Yasumura D, Gorbatyuk MS, Chiang WC, Lavail MM, Lin JH (2012) Induction of Endoplasmic Reticulum Stress Genes, BiP and Chop, in Genetic and Environmental Models of Retinal Degeneration. Invest Ophthalmol Vis Sci 53(12):7590-7599
25. Shinde VM, Sizova OS, Lin JH, Lavail MM, Gorbatyuk MS (2012) ER Stress in Retinal Degeneration in S334ter Rho Rats. PLoS One 7(3):e33266
26. Liu H, Wang M, Xia CH, Du X, Flannery JG, Ridge KD, Beutler B, Gong X (2010) Severe retinal degeneration caused by a novel rhodopsin mutation. Invest Ophthalmol Vis Sci 51(2):1059-1065
27. Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS (2001) Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat 17(1):42-51
28. Li T, Sandberg MA, Pawlyk BS, Rosner B, Hayes KC, Dryja TP, Berson EL (1998) Effect of vitamin A supplementation on rhodopsin mutants threonine-17 -> methionine and proline-347 -> serine in transgenic mice and in cell cultures. Proc Natl Acad Sci USA 95(20):11933-11938
29. Kunte MM, Choudhury S, Manheim JF, Shinde VM, Miura M, Chiodo VA, Hauswirth WW, Gorbatyuk OS, Gorbatyuk MS (2012) ER stress is involved in T17M rhodopsin-induced retinal degeneration. Invest Ophthalmol Vis Sci 53(7):3792-3800
30. Iwawaki T, Akai R, Kohno K, Miura M (2004) A transgenic mouse model for monitoring endoplasmic reticulum stress. Nat Med 10(1):98-102
31. Sakami S, Maeda T, Bereta G, Okano K, Golczak M, Sumaroka A, Roman AJ, Cideciyan AV, Jacobson SG, Palczewski K (2011) Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations. J Biol Chem 286(12):10551-10567
32. Price BA, Sandoval IM, Chan F, Simons DL, Wu SM, Wensel TG, Wilson JH (2011) Mislocalization and degradation of human P23H-rhodopsin-GFP in a knockin mouse model of retinitis pigmentosa. Invest Ophthalmol Vis Sci 52(13):9728-9736
33. Alberts B (2008) Molecular biology of the cell, 5th ed. Garland Science, New York
34. Walter P, Ron D (2011) The unfolded protein response: from stress pathway to homeostatic regulation. Science 334(6059):1081-1086