Investigating retinitis pigmentosa: A laboratory scientist's perspective

Progress in Retinal and Eye Research

Volumn 16, Issue 3, 1997, Pages 353-373

  Wong, Fulton ^a,b  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; APOPTOSIS; ARTICLE; CELL DIFFERENTIATION; CELL DIVISION; CONTROLLED STUDY; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; MOLECULAR GENETICS; MOUSE; NERVE CELL DEGENERATION; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA CELL; RETINA CONE; RETINA ROD; RETINITIS PIGMENTOSA; SIGNAL TRANSDUCTION;

EID: 0030903194     PISSN: 13509462     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1350-9462(96)00032-8     Document Type: Review

References (151)

1. Adler, R. (1996) Mechanisms of photoreceptor death in retinal degenerations. From the cell biology of the 1990s to the ophthalmology of the 21st century? Arch. Ophthalmol. 114: 79-83.
2. Aharoni, D., Dantes, A., Oren, M. and Amsterdam, A. (1995) CAMP-mediated signals as determinants for apoptosis in primary granulosa cells. Exp. Cell Res. 218: 271-282.
3. Arikawa, K., Molday, L. L., Molday, R. S. and Williams, D. S. (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.
4. Axelrod, J., Burch, R. M. and Jelsema, C. L. (1988) Receptor-mediated activation of phospholipase A2 via GTP-binding proteins: arachidonic acid and its metabolites as second messengers. Trends Neurosci. 11: 117-123.
5. Bascom, R. A., Manara, S., Collins, L., Molday, R. S., Kalnins, V. I. and McInnes, R. R. (1992) Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 8: 1171-1184.
6. Baylor, D. A., Nunn, B. J. and Schnapf, J. L. (1984) The photocurrent, noise and spectral sensitivity of rods of the monkey Macaca fascicularis. J. Physiol. (Lond.) 357: 575-607.
7. Berger, W., Meindl, A., van de Pol, T. J., Cremers, F. P., Ropers, H. H., Doerner, C., Monaco, A., Bergen, A. A., Lebo, R., Warburg, M. et al. (1992) Isolation of a candidate gene for Norrie desease by positional cloning. Nat. Genet. 1: 199-203.
8. Berson, E. L. (1993) Retinitis pigmentosa: The Friedenwald Lecture. Invest. Ophthalmol. Vis. Sci. 34: 1659-1676.
9. Berson, E. L., Rosner, B., Sandberg, M. A., Weigel-DiFranco, C. and Dryja, T. P. (1991) Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am. J. Ophthalmol. 111: 614-623.
10. Bird, A. C. (1995) Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture. Am. J. Ophthalmol. 119: 543-562.
11. Bortner, C. D., Oldenburg, N. B. E. and Cidlowski, J. A. (1995) The role of DNA fragmentation in apoptosis. Trends Cell Biol. 5: 21-26.
12. Brann, M. R. and Jelsema, C. L. (1985) Dopamine receptors on photoreceptor membranes couple to a GTP-binding protein which is sensitive to both pertussis and cholera toxin. Biochem. Biophys. Res. Commun. 133: 222-227.
13. Chang, C. J., Lai, W. W., Edward, D. P. and Tso, M. O. (1995) Apoptotic photoreceptor cell death after traumatic retinal detachment in humans. Arch. Ophthalmol. 113: 880-886.
14. Chang, G.-Q., Gaitan, A., Hao, Y. and Wong, F. (1996) Visualization of DNA fragmentation and chromatin condensation in apoptotic nuclei of the Ser 6 mouse retina. Microsc. Res. Tech. 36: 123-129.
15. Chang, G.-Q., Hao, Y. and Wong, F. (1993) Apoptosis: Final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice. Neuron 11: 595-605.
16. Chen, P. L., Scully, P., Shew, J. Y., Wang, J. Y. and Lee, W. H. (1989) Phosphorylation of the retinoblastoma gene product is modulated during the cell cycle and cellular differentiation. Cell 58: 1193-1198.
17. Chen, Z. Y., Hendriks, R. W., Jobling, M. A., Powell, J. F., Breakefield, X. O., Sims, K. B. and Craig, I. W. (1992) Isolation and characterization of a candidate gene for Norrie disease. Nat. Genet. 1: 204-208.
18. Cheng, S. H., Gregory, R. J., Marshall, J., Paul, S., Souza, D. W., White, G. A., O'Riordan, C. R. and Smith, A. E. (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63: 827-834.
19. Clarke, A. R., Purdie, C. A., Harrison, D. J., Morris, R. G., Bird, C. C., Hooper, M. L. and Wyllie, A. H. (1993) Thymocyte apoptosis induced by p53-dependent and independent pathways. Nature 362: 849-852.
20. Cohen, A. I. and Blazynski, C. (1990) Dopamine and its agonists reduce a light-sensitive pool of cyclic AMP in mouse photoreceptors. Vis. Neurosci. 4: 43-52.
21. Cohen, A. I., Todd, R. D., Harmon, S. and O'Malley, K. L. (1992) Photoreceptors of mouse retinas possess D4 receptors coupled to adenylate cyclase. Proc. Natl. Acad. Sci. U. S. A. 89: 12093-12097.
22. Colley, N. J., Cassill, J. A., Baker, E. K. and Zuker, C. S. (1995) Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration. Proc. Natl. Acad. Sci. U.S.A. 92: 3070-3074.
23. Connell, G., Bascom, R., Molday, L., Reid, D., McInnes, R. R. and Molday, R. S. (1991) Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc. Natl. Acad. Sci. U.S.A. 88: 723-726.
24. Cook, B., Lewis, G. P., Fisher, S. K. and Adler, R. (1995) Apoptotic photoreceptor degeneration in experimental retinal detachment. Invest. Ophthalmol. Vis. Sci. 36: 990-996.
25. Coso, O. A., Chiariello, M., Kalinec, G., Kyriakis, J. M., Woodgett, J. and Gutkind, J. S. (1995) Transforming G protein-coupled receptors potently activate JNK (SAPK). Evidence for a divergence from the tyrosine kinase signaling pathway. J. Biol. Chem. 270: 5620-5624.
26. Crespo, P., Xu, N., Simonds, W. F. and Gutkind, J. S. (1994) Ras-dependent activation of MAP kinase pathway mediated by G-protein beta gamma subunits. Nature 369: 418-420.
27. Curcio, C. A., Sloan, K. R., Kalina, R. E. and Hendrickson, A. E. (1990) Human photoreceptor topography. J. Comp. Neurol. 292: 497-523.
28. Dalemans, W., Barbry, P., Champigny, G., Jallat, S., Dott, K., Dreyer, D., Crystal, R. G., Pavirani, A., Lecocq, J. P. and Lazdunski, M. (1991) Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation. Nature 354: 526-528.
29. Daniel, V., Litwack, G. and Tomkins, G. M. (1973) Induction of cytolysis of cultured lymphoma cells by adenosine 3′:5′-cyclic monophosphate and the isolation of resistant variants. Proc. Natl. Acad. Sci. U.S.A. 70: 76-79.
30. Dickerson, C. D. and Weiss, E. R. (1995) The coupling of pertussis toxin-sensitive G proteins to phospholipase A2 and adenylyl cyclase in CHO cells expressing bovine rhodopsin. Exp. Cell Res. 216: 46-50.
31. Dowd, D. R. and Miesfeld, R. L. (1992) Evidence that glucocorticoid- and cyclic AMP-induced apoptotic pathways in lymphocytes share distal events. Molec. Cell Biol. 12: 3600-3608.
32. Dryja, T. P. and Berson, E. L. (1995) Retinitis pigmentosa and allied diseases: implications of genetic heterogeneity. Invest. Ophthalmol. Vis. Sci. 36: 1197-1200.
33. Dryja, T. P., Berson, E. L., Rao, V. R. and Oprian, D. D. (1993) Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat. Genet. 4: 280-283.
34. Dryja, T. P., Finn, J. T., Peng, Y. W., McGee, T. L., Berson, E. L. and Yau, K. W. (1995) Mutations in the gene encoding the alpha-subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. U.S.A. 92: 10177-10181.
35. Dryja, T. P., McGee, T. L., Hahn, L. B., Cowley, G. S., Olsson, J. E., Reichel, E., Sandberg, M. A. and Berson, E. L. (1990a) Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N. Engl. J. Med. 323: 1302-1307.
36. Dryja, T. P., McGee, T. L., Reichel, E., Hahn, L. B., Cowley, G. S., Yandell, D. W., Sandberg, M. A. and Berson, E. L. (1990b) A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343: 364-366.
37. Evans, V. G. (1993) Multiple pathways to apoptosis. Cell Biol. Int. 17: 461-476.
38. Fain, G. L. and Lisman, J. E. (1993) Photoreceptor degeneration in vitamin deprivation and retinitis pigmentosa: the equivalent light hypothesis. Exp. Eye Res. 57: 335-340.
39. Farber, D. B. (1995) From mice to men: the cyclic GMP phosphodiesterase gene in vision and disease. The Proctor Lecture. Invest. Ophthalmol. Vis. Sci. 36: 263-275.
40. Farber, D. B., Seager Danciger, J. and Aguirre, G. (1992) The beta-subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1. Neuron 9: 349-356.
41. Farrar, G. J., Kenna, P., Jordan, S. A., Kumar-Singh, R., Humphries, M. M., Sharp, E. M., Sheils, D. M. and Humphries, P. (1991) A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 354: 478-480.
42. Faucheu, C., Diu, A., Chan, A. W., Blanchet, A. M., Miossec, C., Herve, F., Collard-Dutilleul, V., Gu, Y., Aldape, R. A., Lippke, J. A. et al. (1995) A novel human protease similar to the interleukin-1-beta-converting enzyme induces apoptosis in transfected cells. EMBO J. 14: 1914-1922.
43. Faure, M., Voyno-Yasenetskaya, T. A. and Bourne, H. R. (1994) cAMP and beta gamma subunits of heterotrimeric G proteins stimulate the mitogen-activated protein kinase pathway in COS-7 cells. J. Biol. Chem. 269: 7851-7854.
44. Fernandes-Alnemri, T., Litwack, G. and Alnemri, E. S. (1994) CPP32, a novel human apoptotic protein with homology to Caenorhabditis elegans cell death protein Ced-3 and mammalian interleukin-1-beta-converting enzyme. J. Biol. Chem. 269: 30761-30764.
45. Fernandes-Alnemri, T., Litwack, G. and Alnemri, E. S. (1995) Mch2, a new member of the apoptotic Ced-3/Ice cysteine protease gene family. Cancer Res. 55: 2737-2742.
46. Ferreira, P. A. and Pak, W. L. (1994) Bovine phospholipase C highly homologous to the norpA protein of Drosophila is expressed specifically in cones. J. Biol. Chem. 269: 3129-3131.
47. Finlay, B. L. (1992) Cell death and the creation of regional differences in neuronal numbers. J. Neurobiol. 23: 1159-1171.
48. Friedrich, U. and Coffino, P. (1977) Mutagenesis in S49 mouse lymphoma cells: induction of resistance to ouabain, 6-thioguanine, and dibutyryl cyclic AMP. Proc. Natl. Acad. Sci. U.S.A. 74: 679-683.
49. Friend, S. H., Bernards, R., Rogelj, S., Weinberg, R. A., Rapaport, J. M., Albert, D. M. and Dryja, T. P. (1986) A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323: 643-646.
50. Gavrieli, Y., Sherman, Y. and Ben-Sasson, S. A. (1992) Identification of programmed cell death in situ via specific labeling of nuclear DNA fragmentation. J. Cell Biol. 119: 493-501.
51. Gerke, C. G. Jr., Hao, Y. and Wong, F. (1995) Topography of rods and cones in the retina of the domestic pig. Hong Kong Med. J. 1: 302-308.
52. Goldberg, A. F. X., Moritz, O. L. and Molday, R. S. (1995) Heterologous expression of photoreceptor peripherin/rds and Rom-1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes. Biochemistry 34: 14213-14219.
53. Gruol, D. J. and Dalton, D. K. (1984) Phenothiazines cause a shift in the cAMP dose-response: selection of resistant variants in a murinethymoma line. J. Cell Physiol. 119: 107-118.
54. Heckenlively, J.R. (1988) Retinitis Pigmentosa. J.B. Lippincott Co., Philadelphia.
55. Hengartner, M. O. and Horvitz, H. R. (1994) The ins and outs of programmed cell death during C. elegans development. [Review]. Phil. Trans. R. Soc. Lond. B. Biol. Sci. 345: 243-246.
56. Horowitz, J. M., Yandell, D. W., Park, S. H., Canning, S., Whyte, P., Buchkovich, K., Harlow, E., Weinberg, R. A. and Dryja, T. P. (1989) Point mutational inactivation of the retinoblastoma antioncogene. Science 243: 937-940.
57. Howes, K. A., Ransom, N., Papermaster, D. S., Lasudry, J. G. H., Albert, D. M. and Windle, J. J. (1994) Apoptosis or retinoblastoma: alternative fates of photoreceptors expressing the HPV-16 E7 gene in the presence or absence of p53. Genes Dev. 8: 1300-1310.
58. Huang, P. C., Gaitan, A. E., Hao, Y., Petters, R. M. and Wong, F. (1993) Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene. Proc. Natl. Acad. Sci. U.S.A. 90: 8484-8488.
59. Humphries, P., Kenna, P. and Farrar, G. J. (1992) On the molecular genetics of retinitis pigmentosa. Science 256: 804-808.
60. Inana, G., Totsuka, S., Redmond, M., Dougherty, T., Nagle, J., Shiono, T., Ohura, T., Kominami, E. and Katunuma, N. (1986) Molecular cloning of human ornithine aminotransferase mRNA. Proc. Natl. Acad. Sci. U.S.A. 83: 1203-1207.
61. Ito, A., Satoh, T., Kaziro, Y. and Itoh, H. (1995) G protein beta gamma subunit activates Ras, Raf, and MAP kinase in HEK 293 cells. FEBS Lett. 368: 183-187.
62. Jacobson, M. D., Burne, J. F. and Raff, M. C. (1994) Programmed cell death and Bcl-2 protection in the absence of a nucleus. EMBO J. 13: 1899-1910.
63. Jelsema, C. L. (1987) Light activation of phospholipase A2 in rod outer segments of bovine retina and its modulation by GTP-binding proteins. J. Biol. Chem. 262: 163-168.
64. Jelsema, C. L. (1989) Regulation of phospholipase A2 and phospholipase C in rod outer segments of bovine retina involves a common GTP-binding protein but different mechanisms of action. Ann. N. Y. Acad. Sci. 559: 158-177.
65. Jelsema, C. L. and Axelrod, J. (1987) Stimulation of phospholipase A2 activity in bovine rod outer segments by the beta gamma subunits of transducin and its inhibition by the alpha subunit. Proc. Natl. Acad. Sci. U.S.A. 84: 3623-3627.
66. Johnson, G. L., Gardner, A. M., Lange-Carter, C., Qian, N. X., Russell, M. and Winitz, S. (1994) How does the G protein, Gi2, transduce mitogenic signals?. J. Cell Biochem. 54: 415-422.
67. Kajiwara, K., Berson, E. L. and Dryja, T. P. (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264: 1604-1608.
68. Kajiwara, K., Hahn, L. B., Mukai, S., Travis, G. H., Berson, E. L. and Dryja, T. P. (1991) Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354: 480-483.
69. Kamens, J., Paskind, M., Hugunin, M., Talanian, R. V., Allen, H., Banach, D., Bump, N., Hackett, M., Johnston, C. G. and Li, P. et al., (1995) Identification and characterization of ICH-2, a novel member of the interleukin-1-beta-converting enzyme family of cysteine proteases. J. Biol. Chem. 270: 15250-15256.
70. Kerem, B., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M. and Tsui, L. C. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073-1080.
71. Keren-Tal, I., Suh, B. S., Dantes, A., Lindner, S., Oren, M. and Amsterdam, A. (1995) Involvement of p53 expression in cAMP-mediated apoptosis in immortalized granulosa cells. Exp. Cell Res. 218: 283-295.
72. Koch, W. J., Hawes, B. E., Allen, L. F. and Lefkowitz, R. J. (1994) Direct evidence that Gi-coupled receptor stimulation of mitogen-activated protein kinase is mediated by G beta gamma activation of p21ras. Proc. Natl. Acad. Sci. U.S.A. 91: 12706-12710.
73. Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C. and Kunkel, L. M. (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517.
74. Koenig, M., Monaco, A. P. and Kunkel, L. M. (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53: 219-226.
75. Kolb, H. and Gouras, P. (1974) Electron microscopic observations of human retinitis pigmentosa, dominantly inherited. Invest. Ophthalmol. 13: 487-498.
76. Korsmeyer, S. J. (1993). Programmed cell death: Bcl-2. Important Adv. Oncol. 19-28.
77. Korsmeyer, S. J., Shutter, J. R., Veis, D. J., Merry, D. E. and Oltvai, Z. N. (1993) Bcl-2/Bax: a rheostat that regulates an anti-oxidant pathway and cell death. Semin. Cancer Biol. 4: 327-332.
78. Kuida, K., Lippke, J. A., Ku, G., Harding, M. W., Livingston, D. J., Su, M. S. and Flavell, R. A. (1995) Altered cytokine export and apoptosis in mice deficient in interleukin-1-beta converting enzyme. Science 267: 2000-2003.
79. Kumar, S., Kinoshita, M., Noda, M., Copeland, N. G. and Jenkins, N. A. (1994) Induction of apoptosis by the mouse Nedd2 gene, which encodes a protein similar to the product of the Caenorhabditis elegans cell death gene ced-3 and the mammalian IL-1-beta-converting enzyme. Genes Dev. 8: 1613-1626.
80. Kurada, P. and O'Tousa, J. E. (1995) Retinal degeneration caused by dominant rhodopsin mutations in Drosophila. Neuron 14: 571-579.
81. LaVail, M. M., Yasumura, D., Matthes, M. T., Lau-Villacorta, C., Sung, C.-H. and Steinberg, R. H. (1996) CNTF delays photoreceptor degeneration in rd and Q344ter mutant rhodopsin transgenic mice. Invest. Ophthalmol. Vis. Sci. 37: S437.
82. Lee, S., Christakos, S. and Small, M. B. (1993) Apoptosis and signal transduction: clues to a molecular mechanism. Curr. Opin. Cell Biol. 5: 286-291.
83. Lee, W. H., Bookstein, R., Hong, F., Young, L. J., Shew, J. Y. and Lee, E. Y. (1987) Human retinoblastoma susceptibility gene: cloning, identification, and sequence. Science 235: 1394-1399.
84. Lee, W. H., Bookstein, R. E. and Lee, E. Y. (1990) Molecular biology of the human retinoblastoma gene. Immunol. Ser. 51: 169-200.
85. Li, P., Allen, H., Banerjee, S., Franklin, S., Herzog, L., Johnston, C., McDowell, J., Paskind, M., Rodman, L. and Salfeld, J. et al. (1995a) Mice deficient in IL-1 beta-converting enzyme are defective in production of mature IL-1 beta and resistant to endotoxic shock. Cell 80: 401-411.
86. Li, T., Franson, W. K., Gordon, J. W., Berson, E. L. and Dryja, T. P. (1995b) Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. Proc. Natl. Acad. Sci. U.S.A. 92: 3551-3555.
87. Li, Z. Y., Jacobson, S. G. and Milam, A. H. (1994) Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: Retinal histopathology and immunocytochemistry. Exp. Eye Res. 58: 397-408.
88. Lisman, J. and Fain, G. (1995) Support for the equivalent light hypothesis for RP. Nature Med. 1: 1254-1255.
89. Livingstone, L. R., White. A., Sprouse, J., Livanos, E., Jacks, T. and Tlsty, T. D. (1992) Altered cell cycle arrest and gene amplification potential accompany loss of wild-type p53. Cell 70: 923-935.
90. Lolley, R. N. (1994) The rd gene defect triggers programmed rod cell death. The Proctor Lecture. Invest. Ophthalmol. Vis. Sci. 35: 4182-4191.
91. Lolley, R. N., Rong, H. and Craft, C. M. (1994) Linkage of photoreceptor degeneration by apoptosis with inherited defect in phototransduction. Invest. Ophthalmol. Vis. Sci. 35: 358-362.
92. Lowe, S. W., Ruley, H. E., Jacks, T. and Housman, D. E. (1993a) P53-dependent apoptosis modulates the cytotoxicity of anticancer agents. Cell 74: 957-967.
93. Lowe, S. W., Schmitt, E. M., Smith, S. W., Osborne, B. A. and Jacks, T. (1993b) P53 is required for radiation-induced apoptosis in mouse thymocytes. Nature 362: 847-849.
94. Malarkey, K., Belham, C. M., Paul, A., Graham, A., McLees, A., Scott, P. H. and Plevin, R. (1995) The regulation of tyrosine kinase signalling pathways by growth factor and G-protein-coupled receptors. Biochem. J. 309: 361-375.
95. Martin, S. J. and Green, D. R. (1995) Protease activation during apoptosis: death by a thousand cuts?. Cell 82: 349-352.
96. McGee, T. L., Yandell, D. W. and Dryja, T. P. (1989) Structure and partial genomic sequence of the human retinoblastoma susceptibility gene. Gene 80: 119-128.
97. McLaughlin, M. E., Sandberg, M. A., Berson, E. L. and Dryja, T. P. (1993) Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat. Genet. 4: 130-134.
98. McWilliam, P., Farrar, G. J., Kenna, P., Bradley, D. G., Humphries, M. M., Sharp, E. M., McConnell, D. J., Lawler, M., Sheils, D., Ryan, C. et al. (1989) Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics 5: 619-622.
99. Merry, D. E., Jänne, P. A., Landers, J. E., Lewis, R. A. and Nussbaum, R. L. (1992) Isolation of a candidate gene for choroideremia. Proc. Natl. Acad. Sci. U.S.A. 89: 2135-2139.
100. Milam, A. H., Li, Z. Y., Cideciyan, A. V. and Jacobson, S. G. (1966) Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 37: 753-765.
101. Miura, M., Zhu, H., Rotello, R., Hartwieg, E. A. and Yuan, J. (1993) Induction of apoptosis in fibroblasts by IL-1 beta-converting enzyme, a mammalian homolog of the C. elegans cell death gene ced-3. Cell 75: 653-660.
102. Monaco, A. P., Bertelson, C. J., Liechti-Gallati, S., Moser, H. and Kunkel, L. M. (1988) An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2: 90-95.
103. Monaco, A. P., Neve, R. L., Colletti-Feener, C., Bertelson, C. J., Kurnit, D. M. and Kunkel, L. M. (1986) Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323: 646-650.
104. Nathans, J. and Hogness, D. S. (1984) Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc. Natl. Acad. Sci. U.S.A. 81: 4851-4855.
105. Nathans, J., Thomas, D. and Hogness, D. S. (1986) Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science 232: 193-202.
106. Olsson, J. E., Gordon, J. W., Pawlyk, B. S., Roof, D., Hayes, A., Molday, R. S., Mukai, S., Cowley, G. S., Berson, E. L. and Dryja, T. P. (1992) Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa. Neuron 9: 815-830.
107. Oltvai, Z. N., Milliman, C. L. and Korsmeyer, S. J. (1993) Bcl-2 heterodimerizes in vivo with a conserved homolog Bax, that accelerates programed cell death. Cell 74: 609-619.
108. Orkin, S. H. (1986) Reverse genetics and human disease. Cell 47: 845-850.
109. Osborne, N. N., Cazevieille, C., Carvalho, A. L., Larson, A. and DeSantis, L. (1996) In vivo and in vitro experiments show that betaxolol is a neuroprotective agent. Invest. Ophthalmol. Vis. Sci. 37: S836.
110. Papermaster, D.S. and Nir, I. (1994) Apoptosis in Inherited Retinal Degeneration (E. Mihich and R. H. Schimke, eds), pp. 15-30, Apoptosis. Plenum Press, New York.
111. Papermaster, D. S. and Windle, J. (1995) Death at an early age: apoptosis in inherited retinal degenerations. Invest. Ophthalmol. Vis. Sci. 36: 977-983.
112. Petters, R. M., Alexander, C. A., Wells, K. D., Collins, E. B., Sommer, J. R., Blanton, M. R., Rojas, G., Hao, Y., Flowers, W. L. and Wong, F. (1996) Transgenic pigs expressing rhodopsin Pro347Leu mutation exhibit retinal degeneration. Invest. Ophthalmol. Vis. Sci. 37: S699.
113. Piatigorsky, J. (1987) Gene expression and genetic engineering in the lens. Friedenwald Lecture. Invest. Ophthalmol. Vis. Sci. 28: 9-28.
114. Poblenz, A. T., Singh, S., Campbell, M. L. and Fox, D. A. (1995) Apoptosis in retinas of developmentally lead-exposed rats produces 50-700 kbp, but not inter-nucleosomal DNA fragments. Invest. Ophthalmol. Vis. Sci. 36: S637.
115. Portera-Cailliau, C., Sung, C.-H., Nathans, J. and Adler, R. (1994) Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa. Proc. Natl. Acad. Sci. U.S.A. 91: 974-978.
116. Prince, J.H., Diesem, C.D., Eglitis, I. and Ruskell, G.L. (1960) Anatomy and Histology of the Eve and Orbit in Domestic Animals, Chapter 11, The Pig, pp. 210-233. C.C. Thomas, Springfield.
117. Raff, M. C. (1992) Social controls on cell survival and cell death. Nature 356: 397-400.
118. Raff, M. C., Barres, B. A., Burne, J. F., Coles, H. S., Ishizaki, Y. and Jacobson, M. D. (1993) Programmed cell death and the control of cell survival: lessons from the nervous system. Science 262: 695-700.
119. Rao, V. R., Cohen, G. B. and Oprian, D. D. (1994) Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature 367: 639-642.
120. Reed, J. C. (1994) Bcl-2 and the regulation of programmed cell death. J. Cell Biol. 124: 1-6.
121. Robinson, P. R., Buczylko, J., Ohguro, H. and Palczewski, K. (1994) Opsins with mutations at the site of chromophore attachment constitutively activate transducin but are not phosphorylated by rhodopsin kinase. Proc. Natl. Acad. Sci. U.S.A. 91: 5411-5415.
122. Robinson, P. R., Cohen, G. B., Zhukovsky, E. A. and Oprian, D. D. (1992) Constitutively active mutants of rhodopsin. Neuron 9: 719-725.
123. Rommens, J. M., Iannuzzi, M. C., Kerem, B., Drumm, M. L., Melmer, G., Dean, M., Rozmahel, R., Cole, J. L., Kennedy, D., Hidaka, N. et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245: 1059-1065.
124. Roof, D. J., Adamian, M. and Hayes, A. (1994) Rhodopsin accumulation at abnormal sites in retinas of mice with a human P23H rhodopsin transgene. Invest. Ophthalmol. Vis. Sci. 35: 4049-4062.
125. Rosenfeld, P. J., Cowley, G. S., McGee, T. L., Sandberg, M. A., Berson, E. L. and Dryja, T. P. (1992) A null mutation in the rhodopsin gene causes rod photo-receptor dysfunction and autosomal recessive retinitis pigmentosa. Nat. Genet. 1: 209-213.
126. Sanyal, S., De Ruiter, A. and Hawkins, R. K. (1980) Development and degeneration of retina in rds mutant mice: light microscopy. J. Comp. Neurol. 194: 193-207.
127. Seabra, M. C., Brown, M. S. and Goldstein, J. L. (1993) Retinal degeneration in choroideremia: deficiency of Rab geranylgeranyl transferase. Science 259: 377-381.
128. Seabra, M. C., Brown, M. S., Slaughter, C. A., Sudhof, T. C. and Goldstein, J. L. (1992) Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell 70: 1049-1057.
129. Sieving, P. A., Richards, J. E., Naarendorp, F., Bingham, E. L., Scott, K. and Alpern, M. (1995) Dark-light: model for nightblindness from the human rhodopsin Gly-90-Asp mutation. Proc. Nad. Acad. Sci. U.S.A. 92: 880-884.
130. Steller, H. (1995) Mechanisms and genes of cellular suicide. Science 267: 1445-1449.
131. Sung, C.-H., Schneider, B. G., Agarwal, N., Papermaster, D. S. and Nathans, J. (1991) Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. U.S.A. 88: 8840-8844.
132. Tewari, M., Quan, L. T., O'Rourke, K., Desnoyers, S., Zeng, Z., Beidler, D. R., Poirier, G. G., Salvesen, G. S. and Dixit, V. M. (1995) Yama/CPP32 beta, a mammalian homolog of CED-3, is a CrmA-inhibitable protease that cleaves the death substrate poly(ADP-ribose) polymerase. Cell 81: 801-809.
133. Thompson, C. B. (1995) Apoptosis in the pathogenesis and treatment of disease. Science 267: 1456-1462.
134. Travis, G. H., Groshan, K. R., Lloyd, M. and Bok, D. (1992) Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice. Neuron 9: 113-119.
135. Travis, G. H., Kedzierski, W. and Bok, D. (1996) Chimeric rescue of female rds/rds mutant mice by a wild-type transgene that inserted into chromosome X. Invest. Ophthalmol. Vis. Sci. 37: S699.
136. Travis, G. H., Sutcliffe, J. G. and Bok, D. (1991) The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein. Neuron 6: 61-70.
137. Tso, M. O. M., Zhang, C., Abler, A. S., Chang, C-J., Wong, F., Chang, G.-Q. and Lam, T. T. (1994) Apoptosis leads to photoreceptor degeneration in inherited retinal dystrophy of RCS rats. Invest. Ophthalmol. Vis. Sci. 35: 2693-2699.
138. Tucker, G. S. and Jacobson, S. G. (1988) Morphological findings in retinitis pigmentosa with early diffuse rod dysfunction. Retina 8: 30-41.
139. Vedeckis, W. V. and Bradshaw, H. D. Jr. (1983) DNA fragmentation in S49 lymphoma cells killed with glucocorticoids and other agents. Molec. Cell Endocrinol. 30: 215-227.
140. Wang, L., Miura, M., Bergeron, L., Zhu, H. and Yuan, J. (1994) Ich-1, an Ice/ced-3-related gene, encodes both positive and negative regulators of programmed cell death. Cell 78: 739-750.
141. Weiss, E. R., Hao, Y., Dickerson, C. D., Osawa, S., Shi, W., Zhang, L. and Wong, F. (1995) Altered cAMP levels in retinas from transgenic mice expressing a rhodopsin mutant. Biochem. Biophys. Res. Commun. 216: 755-761.
142. Weiss, E. R., Heller-Harrison, R. A., Diez, E., Crasnier, M., Malbon, C. C. and Johnson, G. L. (1990) Rhodopsin expressed in Chinese hamster ovary cells regulates adenylyl cyclase activity. J. Molec. Endocrinol. 4: 71-79.
143. Williams, G. T. and Smith, C. A. (1993) Molecular regulation of apoptosis: genetic controls on cell death. Cell 74: 777-779.
144. Wong, F. (1990) Visual pigments, blue cone monochromasy, and retinitis pigmentosa. Arch. Ophthalmol. 108: 935-936.
145. Wong, F. (1993) How shall research in the treatment of retinitis pigmentosa proceed. Arch. Ophthalmol. 111: 754-756.
146. Wong, F. (1995) Photoreceptor apoptosis in animal models -implications for retinitis pigmentosa research. Arch. Ophthalmol. 113: 1245-1247.
147. Wong, F., Hao, Y., Chang, G. Q. and Gaitan, A. E. (1996) Contrasting effects of FGF on photoreceptor PCD in rds and rhodopsin mutant mice. Invest. Ophthalmol. Vis. Sci. 37: S503.
148. Wyllie, A. H. (1995) The genetic regulation of apoptosis. Curr. Opin. Genet. Dev. 5: 97-104.
149. Yamaki, K., Tsuda, M., Kikuchi, T., Chen, K. H., Huang, K. P. and Shinohara, T. (1990) Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland. J. Biol. Chem. 265: 20757-20762.
150. Young, R. W. (1984) Cell death during differentiation of the retina in the mouse. J. Comp. Neurol. 229: 362-373.
151. Yuan, J., Shaham, S., Ledoux, S., Ellis, H. M. and Horvitz, H. R. (1993) The C. elegans cell death gene ced-3 encodes a protein similar to mammalian interleukin-1-beta-converting enzyme. Cell 75: 641-652.