Transport of truncated rhodopsin and its effects on rod function and degeneration

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 6, 2007, Pages 2868-2876

  Lee, Edwin S ^a,b   Flannery, John G ^b  

^a University of California Berkeley   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

ANALYTIC METHOD; ANIMAL CELL; ARTICLE; BINDING SITE; CARBOXY TERMINAL SEQUENCE; CELL DEATH; CELL SURVIVAL; CONTROLLED STUDY; ELECTRON MICROSCOPY; ELECTRORETINOGRAM; FLUORESCENCE; HISTOPATHOLOGY; HOMOZYGOSITY; IMMUNOCYTOCHEMISTRY; KNOCKOUT MOUSE; MORPHOMETRICS; MOUSE; NONHUMAN; PHOTOTRANSDUCTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; RETINA DEGENERATION; RETINA ROD; TRANSGENIC MOUSE; WESTERN BLOTTING; ANIMAL; ELECTRORETINOGRAPHY; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION REGULATION; GENETICS; GENOTYPE; IMMUNOELECTRON MICROSCOPY; MALE; METABOLISM; MOUSE MUTANT; PATHOLOGY; PHYSIOLOGY; PROTEIN TRANSPORT; TRANSGENE; ULTRASTRUCTURE;

ANIMALS; BLOTTING, WESTERN; CELL SURVIVAL; ELECTRORETINOGRAPHY; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENE EXPRESSION REGULATION; GENOTYPE; MALE; MICE; MICE, KNOCKOUT; MICE, TRANSGENIC; MICROSCOPY, IMMUNOELECTRON; PROTEIN TRANSPORT; RETINAL DEGENERATION; RHODOPSIN; RODS (RETINA); TRANSGENES;

EID: 34347204136     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-0035     Document Type: Article

References (31)

1. Weleber RG, Gregory-Evans K. Retinitis pigmentosa and allied disorders. In: Ryan SJ, ed. Retina. St. Louis: Mosby; 2001;362-470.
2. The Retina Network (RetNet). Houston, TX: University of Texas-Houston Health Science Center. Available at http://www.sph.uth.tmc.edu/RetNet/disease/ htm. Accessed June 10, 2005.
3. Sung CH, Davenport CM, Hennessey JC, et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA. 1991;88:6481-6485.
4. Dryja TP, Hahn LB, Cowley GS, et al. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA. 1991;88:9370-9374.
5. Dryja TP, McGee TL, Hahn LB, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990;323:1302-1307.
6. Horn M, Humphries P, Kunisch M, et al. Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa. Hum Genet. 1992;90:255-257.
7. Jacobson SG, Kemp CM, Cideciyan AV, et al. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1994;35:2521-2534.
8. Sung CH, Schneider BG, Agarwal N, et al. Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA. 1991;88:8840-8844.
9. Chen J, Makino CL, Peachey NS, et al. Mechanisms of rhodopsin inactivation in vivo as revealed by a COOH-terminal truncation mutant. Science. 1995;267:374-377.
10. Li T, Snyder WK, Olsson JE, Dryja TP. Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc Natl Acad Sci USA. 1996;93:14176-14181.
11. Sung CH, Makino C, Baylor D, Nathans J. A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. J Neurosci. 1994;14:5818-5833.
12. Deretic D, Puleo-Scheppke B, Trippe C. Cytoplasmic domain of rhodopsin is essential for post-Golgi vesicle formation in a retinal cell-free system. J Biol Chem. 1996;271:2279-2286.
13. Tai AW, Chuang JZ, Bode C, et al. Rhodopsin's carboxy-terminal cytoplasmic tail acts as a membrane receptor for cytoplasmic dynein by binding to the dynein light chain Tctex-1. Cell. 1999;97:877-887.
14. Tam BM, Moritz OL, Hurd LB, Papermaster DS. Identification of an outer segment targeting signal in the COOH terminus of rhodopsin using transgenic Xenopus laevis. J Cell Biol. 2000;151:1369-1380.
15. Concepcion F, Mendez A, Chen J. The carboxyl-terminal domain is essential for rhodopsin transport in rod photoreceptors. Vision Res. 2002;42:417-426.
16. Green ES, Menz MD, LaVail MM, Flannery JG. Characterization of rhodopsin mis-sorting and constitutive activation in a transgenic rat model of retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000;41:1546-1553.
17. Olsson JE, Gordon HW, Pawlyk BS, et al. Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron. 1992;9:815-830.
18. Tan E, Wang Q, Quiamboa AB, et al. The relationship between opsin overexpression and photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2001;42:589-600.
19. Humprhies MM, Rancout D, Farrar GJ, et al. Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet. 1997;2:216-219.
20. Lem J, Krasnoperova NV, Calvert PD, et al. Morphological, physiological, and biochemical changes in rhodopsin knockout mice. Proc Natl Acad Sci USA. 1999;96:736-741.
21. Frederick JM, Krasnoperova NV, Hoffmann K, et al. Mutant rhodopsin transgene expression on a null background. Invest Ophthalmol Vis Sci. 2001;42:826-833.
22. Naash MI, Wu TH, Chakraborty D, et al. Retinal abnormalities associated with the G90D mutation in opsin. J Comp Neurol. 2004;478:149-163.
23. Jaissle GB, May CA, Reinhard J, et al. Evaluation of the rhodopsin knockout mouse as a model of pure cone function. Invest Ophthalmol Vis Sci. 2001;42:506-513.
24. Toda K, Bush RA, Humphries P, Sieving PA. The electroretinogram of the rhodopsin knockout mouse. Vis Neurosci. 1999;16:391-398.
25. Lee ES, Burnside B, Flannery FG. Characterization of peripheral/rds and rom-1 in knockout and transgenic animals. Invest Ophthalmol Vis Sci. 2006;47:2150-2160.
26. Michon JJ, Li ZL, Shioura N, et al. A comparative study of methods of photoreceptor morphometry. Invest Ophthalmol Vis Sci. 1991;32:280-284.
27. Alfinito PD, Townes-Anderson E. Activation of mislocalized opsin kills rod cells: a novel mechanism for rod cell death in retinal disease. Proc Natl Acad Sci USA. 2002;99:5655-5660.
28. Tam, BM, Xie G, Oprian DD, Moritz OL. Mislocalized rhodopsin does not require activation to cause retinal degeneration and neurite outgrowth in Xenopus laevis. J Neurosci. 2006;26:203-209.
29. Chen CK, Burns ME, Spencer M, et al. Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase. Proc Natl Acad Sci USA. 1999;96:3718-3722.
30. Chen J, Simon MI, Matthes MT, et al. Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness). Invest Ophthalmol Vis Sci. 1999;40:2978-2982.
31. Deretic D, Williams AH, Ransom, N, et al. Rhodopsin C terminus, the site of mutations causing retina disease, regulates trafficking by binding to ADP-ribosylation factor 4 (ARF4). Proc Natl Acad Sci USA. 2005;102:3301-3306.