Signal transduction in the retina and inherited retinopathies

Cellular and Molecular Life Sciences

Volumn 53, Issue 5, 1997, Pages 419-429

  Shastry, B S ^a  

^a OAKLAND UNIVERSITY   (United States)

Author keywords

Degeneration; Genotype; Mutations; Peripherin RDS; Retina; Retinopathies; Rhodopsin; Signal transduction

Indexed keywords

CYCLIC GMP; PERIPHERIN; PHOSPHODIESTERASE; RHODOPSIN; TRANSDUCIN;

CONTROLLED STUDY; ENVIRONMENTAL FACTOR; EYE DISEASE; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HEREDITY; HUMAN; HUMAN CELL; PHENOTYPE; PHOTORECEPTOR CELL; PHOTOTRANSDUCTION; RETINA; RETINA ROD; RETINITIS PIGMENTOSA; RETINOPATHY; REVIEW; SIGNAL TRANSDUCTION;

3',5'-CYCLIC-GMP PHOSPHODIESTERASE; ANIMALS; EYE PROTEINS; HUMANS; INTERMEDIATE FILAMENT PROTEINS; ION CHANNELS; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; RETINA; RETINITIS PIGMENTOSA; RHODOPSIN; SIGNAL TRANSDUCTION; TRANSDUCIN;

EID: 0030832120     PISSN: 1420682X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s000180050050     Document Type: Review

References (160)

1. Pugh E. N. and Lamb T. D. (1993) Amplification and kinetics of the activation steps in phototransduction. Biochem. Biophys. Acta 1141: 111-149
2. McNaughton P. A. (1990) Light response of vertebrate photoreceptors. Physiol. Rev. 70: 847-883
3. Stryer L. (1991) Visual excitation and recovery. J. Biol. Chem. 266: 10711-10714
4. Lagnado L. and Baylor D. (1992) Signal flow in visual transduction. Neuron 8: 995-1002
5. Yau K.-W. (1994) Phototransduction mechanism in retinal rods and cones. Invest. Ophthalmol. Vis. Sci. 35: 9-32
6. Hargrave P. A. and McDowell J. H. (1992) Rhodopsin and phototransduction. Int. Rev. Cytol. 137B: 49-97
7. Palczewski K. (1994) Is vertebrate phototransduction solved? New insights into the molecular mechanism at phototransduction. Invest. Ophthalmol. Vis. Sci. 35: 3577-3581
8. Blatt C., Eversole-Cire P., Cohn V. N., Zollman S., Fournier R. E. K., Mohandas L. T. et al. (1988) Chromosomal localization of genes encoding guanine-nucleotide binding protein subunit in mouse and human. Proc. Natl. Acad. Sci. USA 85: 7642-7646
9. Levin M. A., Modi W. S. and O'Brien S. J. (1990) Chromosomal localization of genes encoding two forms of the G protein polypeptide β1 and β3 in man. Genomics 8: 380-386
10. Peng Y.-W., Robishaw J. D., Levin M. A. and Yau K.-W. (1992) Retinal rods and cones have distinct G protein β- and γ-subunits. Proc. Natl. Acad. Sci. USA 89: 10882-10886
11. Lolley R. N. (1994) The rd gene defects triggers programmed rod cell death. Invest. Ophthalmol. Vis. Sci. 35: 4182-4191
12. Pak W. L. (1995) Drosophila in vision research. Invest. Ophthalmol. Vis. Sci. 36: 2340-2357
13. Farber D. B. (1995) From mice to men. The cyclic GMP phosphodiesterase gene in vision and disease. Invest. Ophthalmol. Vis. Sci. 36: 263-275
14. Sanyal S. and Jansen H. (1981) Absence of receptor outer segments in the retina of rds mutant mice. Neurosci. Lett. 21: 23-26
15. Jansen H. G. and Sanyal S. (1984) Development and degeneration of retina in RDS mutant mice. Electron microscopy. J. Comp. Neurol. 224: 71-84
16. Sidman R. L. and Green M. C. (1965) Retinal degeneration in the mouse. J. Heredity 56: 23-29
17. Berson E. L. (1993) Retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 34: 1659-1676
18. Humphries P., Keena P. and Farrar G. J. (1992) On the molecular genetics of retinitis pigmentosa. Science 256: 804-808
19. Humphries P., Farrar G. J., Keena P. and McWilliam P. (1990) Retinitis pigmentosa: Genetic mapping in X-linked and autosomal forms of the disease. Clin. Genet. 38: 1-13
20. Dryja T. P. and Berson E. L. (1995) Retinitis pigmentosa and allied diseases. Invest. Ophthalmol. Vis. Sci. 36: 1197-1200
21. Fulton A. B. and Breton M. E. (1993) Clinical physiology of heritable photoreceptor diseases. Arch. Ophthalmol. 111: 1479-1480
22. Bird A. C. (1995) Retinal photoreceptor dystrophies. Am. J. Ophthalmol. 119: 543-562
23. Rosenfeld P. J., McKusick V. A., Amberger J. S. and Dryja T. P. (1994) Recent advances in the gene map of inherited eye disorders. J. Med. Genet. 31: 903-915
24. Daiger S. P., Sullivan I., A. and Rodriguez J. A. (1995) Signal transduction in the retina and brain. Behav. Brain Sci. 18: 452-467
25. Dryja T. P. and Li T. (1995) Molecular genetics of retinitis pigmentosa. Hum. Mol. Genet. 4: 1739-1743
26. Berson E. L. (1996) Retinitis pigmentosa: unfolding its mystery. Proc. Natl. Acad. Sci. USA 93: 4526-4528
27. Xu S., Yu Schwartz M., Rosenberg T. and Gal A. (1996) A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1. Hum. Mol. Genet. 5: 1193-1197
28. Xu S., Nakazawa M., Tamai M. and Gal A. (1995) Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family. J. Med. Genet. 32: 915-916
29. Tartelin E. E., Plant C., Weissenbach J. Bird A. C., Bhattacharya S. S. and Ingelhearn C. F. (1996) A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p. J. Med. Genet. 33: 518-520
30. Bardien S., Ebenezer N., Greenberg J., Inglehearn C. F., Bartmann L., Goliath R. et al. (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Mum. Mol. Genet. 4: 1459-1462
31. McGuire R. E., Gannon A. M., Sullivan, L. S., Rodriguez J. A. and Daiger S. P. (1995) Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q. Linkage mapping in a second unrelated family. Hum. Genet. 95: 71-74
32. Millam J. M., Martinez F., Vilela C., Beneyto M., Prieto F. and Najera C. (1995) An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q. Hum. Genet. 96: 216-218
33. Nakazawa M., Xu S., Gal A., Wada Y. and Tamai M. (1996) Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q. Arch. Ophthalmol. 114: 318-322
34. Soest S. V., Van den Born L. I., Gal A., Farrar S., Bleeker-Wagemakers L. M., Westerveld A. et al. (1994) Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31 q32.1 in an inbred and genetically heterogeneous disease population. Genomics 22: 499-504
35. Shugart Y. Y., Benerjie P., Knowles J. A., Lewis C. H., Jacobson S. G., Matise T. C. et al. (1995) Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21. Am. J. Hum. Genet. 57: 499-502
36. Knowles A. J., Shugart Y. Y., Benerji P., Gilliam T. C., Lewis C. A., Jacobson S. G. et al. (1994) Identification of a locus distinct from RDS peripherin for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum. Mol. Genet. 3: 1401-1403
37. Meindl A., Dry K., Herrmann K., Manson F., Ciccodicola A., Edgar A. et al. (1996) A gene (RPGR) with homology to the RCCI guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) Nature Genet. 13: 35-42
38. McGuire R. E., Sullivan L. S., Blanton S. H., Church M. W., Heckenlively J. R. and Daiger S. P. (1995) X-linked dominant cone-rod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13 p22.11. Am. J. Hum. Genet. 57: 87-94
39. Ott J., Bhattacharya S., Chen J. D., Denton M. J., Donald J., Dubay C. et al. (1990) Localizing multiple X-chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc. Natl. Acad. Sci. USA 87: 701-704
40. Lindsay S., Ingelhearn C. F., Curtis A. and Bhattacharya S. S. (1992) Molecular genetics of inherited retinal degenerations. Curr. Opin. Genet. Dev. 2: 459-466
41. Khorana H. G. (1992) Rhodopsin photoreceptor of the rod cell. J. Biol. Chem. 267: 1-4
42. Hargrave P. A. and McDowell A. H. J. (1992) Rhodopsin and phototransduction. A model system for G protein linked receptors. PASEB J. 6: 2323-2331
43. Dryja J. P . McGee T. L., Reichel E., Han L. A., Cowley G. S., Yandell D. W. et al. (1990) A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343: 364-366
44. Shastry B. S. (1994) Retinitis pigmentosa and related disorders: Phenotypes of rhodopsin and peripherin/RDS mutations. Am. J. Med. Genet. 52: 467-474
45. Al-Maghtheh M., Gregory C., Ingelhearn C., Hardcastle A. and Bhattacharya S. S. (1993) Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Hum. Mutat. 2: 249-255
46. Vaithianathan R., Berson K. L. and Dryja T. P. (1994) Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics 21: 461-463
47. Macke J. P., Devenport C. M., Jacobson S. G., Hennessey J. C., Gonzalez-Fernandez F., Conway B. P. et al. (1993) Identification of novel rhodopsin mutations responsible for retinitis pigmentosa. Implication for the structure and function of rhodopsin. Am. J. Hum. Genet. 53: 80-89
48. Ingelhearn C. F., Bashir R., Lester D. H., Jay M., Bird A. C. and Bhattacharya S. S. (1991) A 3bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am. J. Hum. Genet. 48: 26-30
49. Sung C.-H., Devenport C. M. and Nathans J. (1993) Rhodopsin mutation responsible for autosomal dominant retinitis pigmentosa. J. Biol. Chem. 268: 26645-26649
50. Sung C. H., Sehneider B. G., Agarwal N., Papermaster D. S. and Nathans J. (1991) Functional heterogeneity of mutant rhodopsin responsible for autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 88: 8840-8844
51. Nathans J. (1994) In the eye of the beholder: Visual pigments and inherited variation in human vision. Cell 78: 357-360
52. Kaushal S. and Khorana H. G. (1994) Structure and function in rhodopsin. Point mutation associated with autosomal dominant retinitis pigmentosa. Biochem. 33: 6121-6128
53. Robinson P. R., Cohen G. B., Zhukonsky E. A. and Oprian D. D. (1992) Constitutively active mutants of rhodopsin. Neuron 9: 719-725
54. Min K. C., Zvyaga T. A., Cypress A. M. and Sakman T. P. (1993) Characterization of mutant rhodopsin responsible for autosomal dominant retinitis pigmentosa. J. Biol. Chem. 268: 9400-9404
55. 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
56. Chen J., Makino C. L., Peachey N. S., Baylor D. A. and Simon M. I. (1995) Mechanisms of rhodopsin in vivo as revealed by a COOH-terminal truncation mutant. Science 267: 374-377
57. Ayuso C., Trujello M. H., Robledo M, Ramos C., Benitez J., Martin-Oses F. et al. (1996) Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: Phenotypic variation in both heterozygote and homozygote Val 173 Met mutant proteins. Hum. Genet. 98: 51-54
58. Sanchez B., Borrego S., Chaparro P., Rueda T., Lopez F. and Antinolo G. (1996) A novel null mutation in the rhodopsin gene causing late-onset autosomal dominant retinitis pigmentosa. Hum. Mutat. 7: 180-181
59. Gal A., Artlich A., Ludwig M., Niemeyer G., Olek K., Schwinger E. et al. (1991) Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics 11: 468-470
60. Berson E. L., Rosner B., Sandberg M. A., Weigel-DiFranco C. and Dryja T. P. (1991) Ocular findings in patients with autosomal retinitis pigmentosa and rhodopsin Pro-347-Leu. Am. J. Ophthalmol. 111: 614-623
61. Macke J. P., Hennessey J. C. and Nathans J. (1995) Rhodopsin mutation Pro-347-Ala in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. Hum. Mol. Genet. 4: 775-776
62. Koning B., Arend A., McDowell J. H., Kathlert M., Hargrave P. A. and Hojmann K. (1989) Three cytoplasmic loops of the rhodopsin interacts with transducin. Proc. Natl. Acad. Sci. USA 86: 6878-6882
63. Borrego S., Sanchez B., Ruiz A. and Antinolo G. (1996) Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa. Hum. Mutat. 7: 180-181
64. Rosas D. J., Roman A. J., Weissbrod P., Macke J. P. and Nathans J. (1994) Autosomal dominant retinitis pigmentosa in a large family. A clinical and molecular genetic study Invest. Ophthalmol. Vis. Sci. 35: 3134-3144
65. Jacobson S. G., Kemp C. M., Sung C.-H. and Nathans J. (1991) Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutation. Am. J. Ophthalmol. 112: 256-271
66. Sung C.-H., Makino C., Baylor D. and Nathans J. (1994) A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the rod outer segment. J. Neuosci. 14: 5818-5833
67. Apfelstedt-Sylla E., Kunisch M., Horn M., Ruther K., Gerding H., Gal A et al. (1993) Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyterminal sequence of rhodopsin. Br. J. Ophthalmol. 77: 495-501
68. Kemp C. M., Jacobson S. G., Roman A. J., Sung C.-H. and Nathans J. (1992) Abnormal rod-dark adaptation in autosomal dominant retinitis pigmentosa with Pro-23-His rhodopsin mutation. Am. J. Ophthalmol. 113: 165-174
69. Birch D. C., Hood D. C., Nusinowitz S. and Pepperberg D. R. (1995) Abnormal activation and inactivation mechanisms of rod transduction in patients with autosomal dominant retinitis pigmentosa and the Pro-23-His mutation. Invest. Ophthalmol. Vis. Sci. 36: 1603-1614
70. Berson E. L., Rosner B., Sandberg M. A. and Dryja T. P. (1991) Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch. Ophthalmol. 109: 92-101
71. Sandberg M. A., Weigel-DiFranco C., Dryja T. P. and Berson E. L. (1995) Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 36: 1934-1942
72. Richards J. E., Scott K. M. and Sieving P. A. (1995) Disruption of conserved rhodopsin disulphide bond by Cys189Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa. Ophthalmol. 102: 669-677
73. Fishman G. A., Stone E. M., Gilbert L. D., Kenna P. and Sheffield V. C. (1991) Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa. Arch. Ophthalmol. 109: 1387-1393
74. Fishman G. A., Vandenburgh K., Stone E. M., Gilbert L. D., Alexander K. R. and Sheffield V. C. (1992) Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutation in dominant retinitis pigmentosa. Arch. Ophthalmol. 110: 1582-1588
75. Fishman G. A., Stone E. M., Sheffield V. C., Gilbert L. D. and Kimura A. E. (1992) Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa. Arch. Ophthalmol. 110: 54-62
76. Fishman G. A., Stone E. M., Gilbert L. D. and Sheffield V. C. (1992) Ocular findings associated with a rhodopsin gene codon 106 mutation. Arch. Ophthalmol. 110: 646-653
77. Hayakawa M., Hotta Y., Imai Y., Fujiki K., Nakamura A., Yamashima K. et al. (1993) Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient. Am. J. Ophthalmol. 115: 168-173
78. Sullivan L. J., Makris G. S., Dickinson P., Mulhall L. E. M., App D., Forrest S. et al. (1993) A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease. Arch. Ophthalmol. 111: 1512-1517
79. Kim R. Y., Al-Maghtheh M., Fitzke F. W., Arden G. B., Jay M., Bhattacharya S. S. et al. (1993) Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Arch. Ophthalmol. 111: 1518-1524
80. Horn M., Humphries P., Kunisch M., Marchese C., Apfelstedt-Sylla E., Fugi L. et al. (1992) Deletion in exon-5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa. Hum. Genet. 90: 255-257
81. Restagno G., Maghtheh M., Bhattacharya S., Ferrone M., Garnerone S., Samuelly R. et al. (1993) A large deletion at the 3′-end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 2: 207-208
82. Reig C., Alvarez A. I., Tejada I., Molina M., Ayostegui E., Mertin R. et al. (1996) New mutation in the 3′-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family. Hum. Mutat. 8: 93-94
83. Rosenfeld P. J., Cowley G. S., McGee T. L., Sandberg M. A., Berson E. L. and Dryja T. P. (1993) A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat. Genet. 4: 280-283
84. Dryja T. P., Hahn L. B., Cowley G. S., McGee T. L. and Berson E. L. (1991) Mutation spectrum of rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 88: 9370-9374.
85. Reig C., Antich J., Gean E., Garcia-Sandoval B., Ramos C., Ayuso C. and Carballo M. (1994) Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa. Hum. Genet. 94: 283-286
86. 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
87. Rao V. R., Cohen G. B. and Oprian D. D. (1994). Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature 367: 639-641
88. Rapp L. and William T. (1980) A parametric study of retinal light damage in albino and pigmented rats. In: The effect of constant light on visual processes, pp. 135-159, Williams T. and Baker B. (eds), Plenum Press, New York
89. Noell W. K. (1980) Possible mechanisms for photoreceptor damage by light in mammalian eyes. Vis. Res. 20: 1163-1171
90. Noell W. K., Walker V. S., Kaug B. S. and Berman S. (1966) Retinal damage by light in rats. Invest. Ophthalmol. Vis. Sci. 5: 450-473
91. Lisman J. and Fain G. (1995) Support for the equivalent light hypothesis for retinitis pigmentosa. Nat. Med. 1: 1254-1255
92. Ernst O. P., Hofmann K. P. and Sakmar T. P. (1995) Characterization of rhodopsin mutants that bind transducin but fail to induce GTP nucleotide uptake. J. Biol. Chem. 270: 10580-10586
93. Franke R. R., Konig B., Sakmar T. P., Khorana H. G. and Hofmann K. P. (1990) Rhodopsin mutant that bind but fail to activate transducin. Science 250: 123-125
94. Gato Y., Pachey N. S., Ripps H. and Naash M. I. (1995) Functional abnormalities in transgenic mice expressing a mutant rhodopsin gene. Invest. Ophthalmol. Vis. Sci. 36: 62-71
95. Sieving P. A., Richards J. E., Naarendorp F., Bingham E. L., Scott K. and Alpern M. (1995) Dark-light model for night blindness for the human rhodopsin Gly-90-Asp mutation. Proc. Natl. Acad. Sci. USA 92: 880-884
96. Naash M. I., Hollyfield J. E., Al-Ubaidi M. R. and 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: 5499-5503
97. Olsson J. E., Gordon J. W., Pawlyk B. S., Root D., Hayes A., Molday R. S. et al. (1992) Transgenic mice with a rhodopsin mutation (Pro23His) A mouse model of autosomal dominant retinitis pigmentosa. Neuron 9: 815-830
98. Li T., Franson K., Gordon J. W., Berson E. L. and Dryja T. P. (1995) Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. Proc. Natl. Acad. Sci. USA 92: 3551-3555
99. Dryja T. P., Hahn L. B., Reboul T. and Arnaud B. (1996) Missense mutation in the gene encoding the α-subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat. Genet. 13: 358-360
100. Huang S. H., Pittler S. J., Huang X., Oliveira L., Berson E. L. and Dryja T. P. (1995) Autosomal recessive retinitis pigmentosa caused by mutations in the α-subunit of rod cGMP phosphodiesterase. Nat. Genet. 11: 468-469
101. Danciger M., Blaney J., Gao Y. Q., Zhao D. Y., Heckenlively J. R., Jacobson S. G. et al. (1995) Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics 30: 1-7
102. McLaughlin M. E., Ehrhart T. L., Berson E. L. and Dryja T. P. (1995) Mutation spectrum of the gene encoding the β subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 92: 3249-3253
103. Bayers M., Giordano M., Balcells S., Grinsberg D., Vilagelin L., Martinez I. et al. (1995) Homozygous tandem duplication within the gene encoding the β subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Hum. Mutat. 5: 228-234
104. McLaughlin M. E., Sandberg M. A., Berson E. L. and Dryja T. P. (1993) Recessive mutations in the gene encoding the β subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat. Genet. 4: 130-133
105. Bowes C., Danciger M., Kozak C. A. and Farber D. B. (1989) Isolation of candidate cDNA for the gene causing retinal degeneration in the rd mouse. Proc. Natl. Acad. Sci. USA 86: 9722-9726
106. Cook N. J., Hanke W. and Kaupp U. B. (1987) Identification purification and reconstitution of the cGMP dependent channel from rod photoreceptors. Proc. Natl. Acad. Sci. USA 84: 585-589
107. Chen T.-Y., Peng Y.-W., Dhallan R. S., Ahamed B., Reed R. R. and Yau K. W. (1993) A new subunit of the cyclic nucleotide gated cation channel in retinal rods. Nature 362: 764-767
108. Hsu Y. T. and Molday R. S. (1993) Modulation of rod photoreceptor cells by calmodulin. Nature 361: 76-79
109. Dryja T. P., Finn J. T., Peng Y.-W., McGee T. L. and Berson E. L. (1995) Mutations in the gene encoding the α-subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 92: 10177-10181
110. Travis G. H., Sutcliffe J. G. and Bok D. (1991) The retinal degeneration slow gene product is a photoreceptor disc-membrane associated glycoprotein. Neuron 6: 61-79
111. Molday R. S., Hicks D. and Molday L. (1987) Peripherin: A rim specific membrane protein of rod outer segment discs. Invest. Ophthalmol. Vis. Sci. 28: 50-61
112. Meins M., Gruning G., Blankenagel A., Krastel H., Reck B., Fuchs S. et al. (1993) Heterozygous null allele mutation in the human peripherin/RDS gene. Hum. Mol. Genet. 2: 2181-2182
113. Lam B. L., Vandenberg K., Sheffield V. C. and Stone E. M. (1995) Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene. Am. J. Ophthalmol. 119: 65-71
114. Farrar G. J., Keena P., Jordan S. A., Kuman-Singh R., Humphries M. M., Sharp E. M. et al. (1991) A three base pair deletion in the peripherin/RDS gene in one form of retinitis pigmentosa. Nature 354: 478-480
115. Karrar G. J., Kenna P., Jordan S.A., Kumar-Singh R., Humphries M. M., Sharp E. M. et al. (1992) Autosomal dominant retinitis pigmentosa: A novel mutation at the peripherin RDS locus in the original 6p-linked pedigree. Genomics 14: 805-807
116. Fishman G. A., Stone E., Gilbert L. D., Vanderburgh K., Sheffield V. C. and Heekenlively J. R. (1994) Clinical features of a previously unidentified codon 216 (proline to serine) mutation in the peripherin/RDS gene in autosomal dominant retinitis pigmentosa. Ophthalmol. 101: 1409-1421
117. Kajiwara K., Berson E. L. and Dryja T. P. (1994) Digenic retinitis pigmentosa due to the mutation at the unlinked peripherin/RDS and ROM1 loci. Science 264: 1604-1608
118. Saga M., Mashima Y., Akeo K., Oguchi Y., Kudoh J. and Shimizu N. (1993) A novel cys214ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa. Hum. Genet. 92: 519-521
119. Kajiwara K., Hahn L. B., Mukai S., Travis G. H., Berson E. L. and Dryja T. P. (1991) Mutation in the human retinal slow gene in autosomal dominant retinitis pigmentosa. Nature 354: 480-483
120. Nakazawa M., Kikawa E., Kamio Y., Chida Y., Shiono T. and Tamai M. (1994) Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn 244 Lys) of the peripherin/RDS. Arch. Ophthalmol. 112: 1567-1573
121. Nichols B. E., Sheffield V. C., Vandenburgh K., Drack A. V., Kimura A. E. and Stone E. M. (1993) Butterfly shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat. Genet. 3: 202-207
122. Michols B. E., Drack A. V., Vandenburgh K., Kimura A. E., Sheffield V. C. and Stone E. M. (1993) A two base par deletion in the RDS gene associated with butterfly shaped pigment dystrophy of the fovea. Hum. Mol. Genet. 2: 601-603
123. Fossarello M., Bertini C., Galantuoma M. S., Cao A., Serra A. and Pirastu M. (1996) Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy. Arch. Ophthalmol. 114: 448-456
124. Kajiwara K., Sandberg M. A., Berson E. L. and Dryja T. P. (1993) A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat. Genet. 3: 208-212
125. Kim R. Y., Dollfus H., Jeffrey T., Fitzke F. W., Arden G. B., Bhattacharya S. S. et al. (1995) Autosomal dominant pattern dystrophy of the retina associated with a 4bp insertion at codon 140 in the peripherin/RDS gene. Arch. Ophthalmol. 113: 451-455
126. Wells J., Wroblewski J., Keen J., Inglehearn C., Jubb C., Eckstein A. et al. (1993) Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat. Genet. 3: 213-218
127. Wroblewski J. J., Wells J. A., Eckstein A., Fitzke F., Jubb C., Keen T. J. et al. (1994) Macular dystrophy associated with mutation at codon 172 in the human retinal degeneration slow gene. Ophthalmol. 101: 12-22
128. Kemp C. M., Jacobson S. G., Cideciyan A. V., Kimura A. E., Sheffield V. C. and Stone E. M. (1994) RDS gene mutation carrying retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. Invest. Ophthalmol. Vis. Sci. 35: 3154-3162
129. Weleber R. G., Carr R. E., Murphey W. H., Sheffield V. C. and Stone E. M. (1993) Phenotypic variation including retinitis pigmentosa pattern dystrophy and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch. Ophthalmol. 111: 1531-1542
130. Kikawa E., Nakazawa M., Chida Y., Shiono T. and Tamai M. (1994) A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's eye maculopathy detected by non-radioisotopic SSCP. Genomics 20: 137-139
131. Hoyng C. B., Heutink P., Testers L., Pinckers A., Deutman A. F. and Oostra B. A. (1996) Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. Am. J. Ophthalmol. 121: 623-629
132. Nakazawa M., Kikawa E., Chida Y., Wada Y., Shino T. and Tamai M. (1996) Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn 244 His) and codon 184 (Tyr 184 Ser) of the penpherin/RDS gene. Arch. Ophthamol. 114: 72-78
133. Nakazawa M., Kikawa E., Chida Y. and Tamai M. (1944) Asn 244 His mutation of the peripoherin/RDS gene causing autosomal dominant cone-rod degeneration. Hum. Mol. Genet. 3: 1195-1196
134. Jordan S. A., Farrar G. J., Kenna P. and Humphries P. (1992) Polymorphic variation within conserved sequences at the 3′-end of the human RDS gene which results in amino acid substitution. Hum. Mutat. 1: 240-247
135. Bascom R., Scheppert K. and McInnes R. R. (1993) Cloning of the human and murine ROM1 gene. Genomic organization and sequence conservation. Hum. Mol. Genet. 2: 385-391
136. Bascom R. A., Garcia-Heras J., Hsieh C. L., Gerhard D. S., Jones C., Franke U. et al. (1992) Localization of the photoreceptor gene ROM1 to chromosome 11 and mouse chromosome 19. Sublocalization to human 11q13 between PGA and PYGM. Am. J. Hum. Genet. 51: 1028-1035
137. 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 disc rim protein family implicated in human retinopathies. Neuron 8: 1171-1184
138. Maestri N. E. and Beaty T. H. (1992) Prediction of two locus model for disease heterogeneity. Appplication to adrenoleukodystrophy. Am J. Hum. Genet. 44: 576-582
139. Braun A., Ambach H., Kammerer S., Rolinski B., Stockler S., Rabl W. et al. (1995) Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Am. J. Hum. Genet. 56: 854-861
140. Johns D. R., Smith K. H., Miller N. R., Sulewski M. E. and Bias W. B. (1993) Identical twins who are discordant for Leber's hereditary optic neuropathy. Arch. Ophthalmol. 111: 1491-1494
141. Rutland P., Pulleyn E. J., Reardon W., Baraitser M., Hayward R., Jones B. et al. (1995) Identical mutation in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet. 9: 173-176
142. McKusick V. A. (1988) Mendelian inheritance in man. Johns Hopkins University Press, Baltimore
143. Lee B., Vissing H., Ramirez F., Rogers D. and Rimoin D. (1989) Identification of the molecular defects in family with spondyloepiphyseal dysplasia. Science 244: 978-980
144. Ahmad N. N., Ala-kokko L., Knowlton R. G., Jimenez S. A., Warver E. J., Mguire J. L. et al. (1991) Stop codon in the procollagen II gene (COL2A1) in a family with Stickler syndrome. Proc. Natl. Acad. Sci. USA 88: 6624-6627
145. McPhaul M. J., Marcelli M., Tilley W. D., Griffin J. E. and Wilson J. D. (1991) Androgen resistant caused by mutations in the androgen receptor gene. FASEB J. 5: 2910-2915
146. Davies J. L., Kawaguchi Y., Bennett S. T., Copeman J. B., Cordell H. J., Pritchard L. E. et al. (1994) A geome wide search for human type I diabetes susceptibility genes. Nature 371: 130-136
147. Hashimoto L., Habita C., Beressi J. P., Delepine M., Besse C., Cambon-Thomson A. et al. (1994) Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature 371: 161-164
148. Lander E. S. and Schork N. J. (1994) Genetic dissection of complex traits. Science 265: 2037-2048
149. Suthers G. K. and Davies K. E. (1992) Phenotypic heterogeneity and the single gene. Am. J. Hum. Genet. 50: 887-891
150. Riccardi V. M. (1993) Genotype malleotype phenotype and randomness: Lessons from neurofibromatosis-1 (NF-1). Am. J. Hum. Genet. 53: 301-304
151. Gogfrey M. (1993) Molecular heterogeneity: A clinical dilemna. Clinical heterogeneity: A molecular dilemna. Am. J. Hum. Genet. 53: 22-25
152. Goldfarb L. G., Peterson R. B., Tabaton M., Brown P., LeBlanc A. C., Montagna P. et al. (1992) Fatal familial insomnia and familial Creutzfeldt Jacob disease: Disease phenotype determined by a DNA polymorphism. Science 258: 806-808
153. Latham T., Grabowski G. A., Bimal D. M., Theophilus B. D. and Smith F.I. (1990) Complex alleles of the acid β-Glucosidase gene in Gaucher disease. Am. J. Hum. Genet. 47: 79-86
154. Steel M. (1993) Polymorphisms proteins and phenotypes. Lancet 341: 212-213
155. Monk M. (1990) Variation in epigenetic inheritance. Trends Genet. 6: 110-114
156. Wolf U. (1995) The genetic contribution to the phenotype. Hum. Genet. 95: 127-148
157. Hurst J. A., Hall C. M. and Baraitser M. (1991) The Holtoran syndrome. J. Med. Genet. 28: 406-410
158. Ottman R. (1995) Gene environment interaction and public health. Am. J. Hum. Genet. 56: 821-823
159. Steel F. R. (1994) Shedding light on inherited blindness. The genetics of retinitis pigmentosa. J. NIH Res. 6: 58-62
160. Lem J., Flannery J. G., Applebury M. L., Farber D. B. and Simon M. I. (1992) Retinal degeneration rescued in transgenic rd mice by expression of the cGMP phosphodiesterase β-subunit. Proc. Natl. Acad. Sci. USA 89: 4422-4426