Light, sight and fight for insight

Biochimie

Volumn 80, Issue 4, 1998, Pages 339-341

  Shastry, B S ^a  

^a OAKLAND UNIVERSITY   (United States)

Author keywords

Eye; Genetic disorders; Signal transduction

Indexed keywords

ARTICLE; BLINDNESS; HUMAN; LIGHT; LIGHT ABSORPTION; PHOTORECEPTOR CELL; RETINA; SIGNAL TRANSDUCTION; VISION;

EID: 0032052275     PISSN: 03009084     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0300-9084(98)80077-1     Document Type: Article

References (35)

1. 1 Potter AR (1994) Preventing blindness world-wide. Br Med J 309, 682-683
2. 2 Hargrave P, McDowell JH (1992) Rhodopsin and phototransduction. Int Rev Cytol 137, 49-97
3. 3 Blatt C, Eversole-Cire P, Cohn VH, Zollman S et al (1988) Chromosomal localization of genes encoding guanine nucleotide binding protein subunits in mouse and humans. Proc Natl Acad Sci USA 85, 7642-7646
4. 4 Levin MA, Modi WS, O'Brien SJ (1990) Chromosomal localization of genes encoding two forms of the G-protein β-polypeptide β1 and β3 in man. Genomics 8, 380-386
5. 5 Peng YW, Robishaw JD, Levin MA, Yau KW (1992) Retinal rods and cones have distinct G proteins β and γ subunits. Proc Natl Acad Sci USA 89, 10882-10886
6. 6 Travis G, Sutcliffe JG, Bok D (1991) The retinal degeneration slow gene (RDS) product is a photoreceptor disk membrane associated glycoprotein. Neuron 6, 61-70
7. 7 Arikawa K, Molday LL, Molday RS, Williams D (1992) Localization of peripherin/RDS in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J Cell Biol 116, 659-667
8. 8 Connell G, Bascom R, Molday L, Reid D, McInnes RR, Molday RS (1991) Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc Natl Acad Sci USA 88, 723-726
9. 9 Bascom RA, Manara S, Collins L, Molday RS, Kalnins VI, McInnes RR ( 1992) Cloning of the cDNA for a novel photoreceptor membrane (ROM-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 8, 1171-1184
10. 10 Bird AC (1995) Retinal photoreceptor dystrophies. Am J Ophthalmol 119, 543-562
11. 11 Al-Maghthet M, Gregory C, Inglehearn C, Hardcastle A, Bhattacharya SS (1993) Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Hum Mutat 2, 245-255
12. 12 Dryja TP, Li T (1995) Molecular genetics of retinitis pigmentosa. Hum Mol Genet 4, 1739-1743
13. 13 Shastry BS (1994) Retinitis pigmentosa and related disorders: Phenotypes of rhodopsin and peripherin/RDS mutations. Am J Med Genet 52, 467-474
14. 14 Shastry BS (1997) Signal transduction in the retina and inherited retinopathies. Cell Mol Life Sci 53, 419-429
15. 15 Daiger SP, Sullivan LS, Rodriguez A (1995) Correlation of phenotype with genotype in inherited retinal degeneration. Behav Brain Sci 18, 452-457
16. 16 Keen TJ, Inglehearn CF (1996) Mutations and polymorphisms in the human peripherin/RDS gene and their involvement in inherited retinal degeneration. Hum Mutat 8, 297-303
17. 17 Perrault I, Rozet JM, Valvas P, Gerber S, Camuzat A, Dollfus M, Chatelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Paslier DL, Frezal J, Dufier JL, Pittler S, Munnich A, Kaplan J (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet 14, 461-464
18. 18 Yamamoto S, Sippel KC, Berson EL, Dryja TP (1997) Defects in the rhodopsin kinase gene in the oguchi form of stationary night blindness. Nat Genet 15, 175-178
19. 19 Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A (1995) A homozygous 1 base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet 10, 360-362
20. 20 Lolley RN, Rong H, Craft CM (1994) Linkage of photoreceptor degeneration by apoptosis with inherited defects in phototransduction. Invest Ophthalmol Vis Sci 35, 358-362
21. 21 Sung CH, Makino C, Baylor D, Nathans J (1994) A rhodopsin gene mutation is responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. J Neurosci 14, 5818-5833
22. 22 Kaushal S, Khorana HG (1994) Structure and functions in rhodopsin. Point mutations associated with autosomal dominant retinitis pigmentosa. Biochemistry 33, 6121-6128
23. 23 Goldberg AFS, Molday RS (1996) Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. Proc Natl Acad Sci USA 93, 13726-13730
24. 24 Olsson JE, Gordon JW, Pawlyk BS, Roof D, Hayers A, Molday RS, Mukai S, Cowley GS, Berson EL, Dryja TP (1992) Transgenic mice with rhodopsin mutation (Pro 23 His): A mouse model of autosomal dominant retinitis pigmentosa. Neuron 9, 815-830
25. 25 Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, Bush RA, Sieving PA, Sheils DM, NcNally N, Creighton P, Erven A, Boros A, Gulya K, Capecchi MR, Humphries P (1997) Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet 15, 216-219
26. 26 Tsang SH, Gouras P, Hamashita CK, Kjeldbye H, Fisher J, Farber DB, Goff SP ( 1996) Retinal degeneration in mice lacking the γ subunit of the rod cGMP phosphodiesterase. Science 272, 1026-1029
27. 27 Fiedelius H, Simonsen SE (1970) A family with bilateral symmetrical sectorial pigmentary retinal lesion. Acta Ophthalmol 48, 14-22
28. 28 Sieving PA, Richards JE, Naarendorf F, Bingham EL, Scott K, Alpern M (1995) Dark-light: Model for night blindness from the human rhodopsin. Gly-90 → Asp mutation. Proc Natl Acad Sci USA 92, 880-884
29. 29 Stone EM, Kimura AE, Nichols BE, Khadivi P, Fishman GA, Sheffield VC (1991) Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. Ophthalmology 98, 1806-1813
30. 30 Li ZY, Jacobson SG, Milam AH (1994) Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry. Exp Eye Res 58, 397-408
31. 31 Li T, Franson WK, Gordon JW, Berson EL, Dryja TP (1995) Constitutive activation of phototransductin by K296E opsin is not a cause of photoreceptor degeneration. Proc Natl Acad Sci USA 92, 3551-3555
32. 32 Robinson PR, Cohen GB, Zhukovsky EA, Oprian DD (1992) Constitutively active mutants of rhodopsin. Neuron 9, 719-725
33. 33 Bennett J, Tanabe T, Sun D, Zeng Y, Kjeldbye H, Gouras P, Magurie AM (1996) Photoreceptor cell rescue in retinal degeneration (rd) by in vivo gene therapy. Nat Med 2, 649-654
34. 34 Mashhour B, Couton D, Perricaudet M, Briand P (1994) In vivo adenovirus mediated gene transfer into ocular tissue. Gene Ther 1, 122-126
35. 35 Lem J, Flannery JG, Li T, Applebury ML, Farber DB, Simon MJ (1992) Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase β subunit. Proc Natl Acad Sci USA 89, 4422-4426