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References
Chen JD, Halliday F, Keith G, Sheffield L, Dickinson P, Gray R, Constable I, Denton M : Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci. Am J Hum Genet 1989, 45: 401–11.
Kimberling Wl, Moller CG, Davenport SLH, Lund G, Grissom TJ, Priluck I, White V, Weston MD, Biscone-Halterman K, Brookhouser PE : Usher syndrome: clinical findings and gene localisation studies. Laryngoscope 1988, 99: 66–72.
Kimberling WJ, Weston MD, Moller C, Davenport SL, Shugart YY, Priluck JA, Martini A, Milani M, Smith RJ : Localisation of Usher syndrome type II to chromosome 1q. Genomics 1990, 7: 245–9.
Kolb, J and Gouras P : Electron microscopic observations of human retinitis pigmentosa, dominantly inherited. Invest Ophthalmol Vis Sci 1974, 13: 487–98.
Verhoeff FH : Microscopic observations in a case of retinitis pigmentosa. Arch Ophthalmol 1931, 5: 392–407.
Friedenwald J : Discussion of Verhoeff's observations of pathology of retinitis pigmentosa. Arch Ophthalmol 1930, 4: 767–70.
Cogan DG : Pathology [of retinitis pigmentosa]. Trans Am Acad Ophthalmol Otolaryngol 1950, 54: 629–61.
Szamier RB and Berson EL : Histopathologic study of an unusual form of retinitis pigmentosa. Invest Ophthal Vis Sci 1982, 22: 559–70.
Flannery JG, Farber DB, Bird AC, Bok D : Degenerative changes in a retina affected with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 1989, 30: 191–211.
Szamier RB, Berson EL, Klein R, Meyers S : Sex-linked retinitis pigmentosa: ultrastructure of photoreceptors and pigment epithelium. Invest Opthalmol Vis Sci 1979, 18: 145–60.
Boughman JA, Conneally PM, Nance WE : Population studies of retinitis pigmentosa. Am J Hum Genet 1980, 32: 223–35.
Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH : Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol 1984, 97: 357–65.
Royer-Pokora B, Kunkel IM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH : Cloning the gene for an inherited human disorder-chronic granulomatous disease—on the basis of its chromosomal location. Nature 1986, 322: 32–8.
Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel IM : Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 1986, 323: 646–50.
Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui LC, Collins FS : Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989, 245: 1059–65.
Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm ML, Iannuzzi MC, Collins FS, Tsui LC : Identification of the cystic fibrosis gene; cloning and characterisation of complementary DNA. Science 1989, 245: 1066–73.
Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC : Identification of the cystic fibrosis gene: genetic analysis. Science 1989, 245: 1073–80.
Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, Dryja TP : A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986, 323: 643–6.
Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, et al: A polymorphic DNA marker genetically linked to Huntingdon's disease. Nature 1983, 306: 234–8.
Nathans J and Hogness DS : Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc Natl Acad Sci USA 1984, 81: 4851–5.
Si JSS, Borst DE, Redmond TM, Nickerson JM : Cloning of cDNAs encoding human interphotoreceptor retinoid-binding protein (IRBP) and comparison with bovine IRBP sequences. Gene 1989, 80: 99–108.
Fong SL, Fong WB, Morris TA, Kedzie KM, Bridges CDB : Characterisation and comparative structural features of the gene for human interstitial retinol-binding protein. J Biol Chem 1990, 265: 3648–53.
Crabb JW, Goldflam S, Harris SE, Saari JC : Cloning of the cDNA's encoding the cellular retinaldehyde binding protein from bovine and human retina and comparison of the protein sequences. J Biol Chem 1988, 263: 18688–702.
Yamaki K, Tsuda M, Shinohara T : The sequence of human retinal S-antigen reveals similarities with alpha-transducin. FEBS Lett 1988, 234: 39–43.
Lerea CL, Bunt-Milam AH, Hurley JB : Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina. Neuron 1989, 3: 367–76.
Ovchinnikov YA, Lipkin VM, Kumarev VP, Gubanov VV, Khramtsov NV, Akhmedov NB, Zagranichny VE, Muradov KG : Cyclic GMP phosphodiesterase from cattle retina. Amino acid sequence of the gamma-subunit and nucleotide sequence of the corresponding cDNA. FEBS Lett 1986, 204: 288–92.
Tuteja N and Farber DB : Gamma-subunit of mouse retinal cyclic-GMP phosphodiesterase cDNA and corresponding amino acid sequence. FEBS Lett 1988, 232: 182–6.
Ringens PJ, Fang M, Shinohara T, Bridges CD, Lerea CL, Berson EL, Dryja TP : Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa. Invest Ophthal Vis Sci 1990, 31: 1421–6.
Cotran PR, Ringens PJ, Crabb JW, Berson EL, Dryja TP . Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA. Exp Eye Res 1990, 51: 15–19.
Cotran PR, Bruns GAP, Berson EL, Dryja TP : Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase. Exp Eye Res 1991, 53: 557–64.
Liou GI, Li Y, Wang C, Fong SL, Bhattacharya S, Bridges CDB : BglII RFLP recognised by a human IRBP cDNA localised to chromosome 10. Nuc Acids Res 1987, 15: 3196.
Simpson NE, Kidd KK, Goodfellow PJ, Dermid HM, Myer S, Kidd JR, Jackson CE, Duncan AMV, Farrer LA, Brasch K, Castiglione C, Genel M, Gertner J, Greenberg CR, Gusella JF, Holden JJA, White BN : Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature 1987, 328: 528–30.
Nathans J, Piantanida TP, Eddy RL, Shows TB, Hogness DS : Molecular genetics of inherited variation in human colour vision. Science 1986, 232: 203–10.
Sparkes RS, Klisak I, Kaufman D, Mohandas T, Tobin AJ, McGinnis J : Assignment of the rhodopsin gene to human chromosome three, region 3q21-3q24 by in situ hybridisation studies. Curr Eye Res 1986, 5: 797–8.
Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, McConkie-Rosell A, Buckley EG, Dryja TP : Identification of oncogenic point mutations in the human retinoblastoma gene and application to genetic counseling. N Eng J Med 1989, 321: 1689–95.
Yandell DW and Dryja TP : Direct genomic sequence of alleles at the human retinoblastoma locus: application to cancer diagnosis and gentic counseling. In: Furth M, Greaves M, eds. Cold Spring Harbour Symposium Series: Cancer Cells 7—Molecular Diagnostics of Human Cancer. Cold Spring Harbor: Cold Spring Harbour Press, 1989: 223–227.
Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL : A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990, 343: 364–6.
Applebury ML and Hargrave PA : Molecular biology of the visual pigments. Vision Res 1986, 12: 1881–95.
Baehr W, Falk JD, Bugra K, Triantafyllos JT, McGinnis JF : Isolation and analysis of the mouse opsin gene. FEBS Lett 1988, 238: 253–6.
Pappin DJC, Eliopoulos E, Brett M, Findlay JBC : A structural model for ovine rhodopsin. Int J Biol Macromol 1984, 6: 73–6.
Weber JL and May PE : Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989, 44: 388–96.
Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, Sandberg MA, Berson EL : Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Eng J Med 1990, 323: 1302–7.
Bhattacharya S, Lester D, Keen TJ, Bashir R, Lauffart B, Inglehearn CF, Jay M, Bird AC : Retinitis pigmentosa and mutations in rhodopsin. Lancet 1991, 337: 185.
Fujiki K, Hotta Y, Shiono T, Hayakawa M, Noro M, Sakuma T, Tamai M, Nakajima A, Kanai A : Codon 347 mutation of the rhodopsin gene in a Japanese family with autosomal dominant retinitis pigmentosa. Am J Hum Genet 1991, 49(Suppl): 187.
Doi T, Molday RS, Khorana HG : Role of the intradiscal domain in rhodopsin assembly and function. Proc Natl Acad Sci USA 1990, 87: 4991–5.
Papermaster DS, Dreyer WJ : Rhodopsin content in the outer segment membranes of bovine and frog retinal rods. Biochem 1974, 13: 2438–44.
Young RW : Visual cells and the concept of renewal. Invest Ophthalmol Vis Sci 1976, 15: 700–25.
Fliesler SJ, Rayborn ME, Hollyfield JG : Membrane morphogenesis in retinal rod outer segments: inhibition by tunicamycin. J Cell Biol 1985, 100: 574–87.
Ulshafer RJ, Allen CB, Fliesler SJ : Tunicamycin-induced dysgenesis of retinal rod outer segment membranes. Invest Ophthal Vis Sci 1986, 27: 1587–601.
Sheffield VC, Fishman GA, Beck JS, Kimura AE, Stone EM : Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet 1991, 49: 699–706.
Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL : Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 1991, 88: 9370–4.
Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, Nowakowski R, Fishman G, Gouras P, Nathans J : Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 1991, 88: 6481–5.
Sung CH, Schneider BG, Agarwal N, Papermaster DS, Nathans J : Functional heterogeneity of mutant rhodopsin responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 1991, 88: 8840–4.
Berson EL, Rosner B, Sandberg MA, Dryja TP : Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro23His). Arch Ophthalmol 1991, 109: 92–101.
Curcio CA, Sloan KR, Kalina RE, Hendrickson AE : Human photoreceptor topography. J Comp Neurol 1990, 292: 497–523.
Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Dryja TP : Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol 1991, 111: 614–23.
Jacobson SG, Kemp CM, Sung CH, Nathans J : Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. Am J Ophthalmol 1991, 112: 256–71.
Fishman GA, Stone EM, Gilbert LD, Kenna P, Sheffield VC : Ocular findings associated with a rhodopsin gene codon 58 tranversion mutation in autosomal dominant retinitis pigmentosa. Arch Ophthalmol 1991, 109: 1387–93.
Berson EL, Sandberg MA, Dryja TP : Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine. Trans Am Ophthalmol Soc 1991; (in press).
Heckenlively JR, Rodriguez JA, Daiger SP : Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin. Arch Ophthalmol 1991, 109: 84–91.
Richards JE, Kuo CY, Boehnke M, Sieving PA : Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa. Ophthalmology 1991, 98: 1797–805.
Stone EM, Kimura AE, Nichols BE, Khadivi P, Fishman GA, Sheffield VC : Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. Ophthalmology 1991, 98: 1806–13.
Sorscher EJ and Huang Z : Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosa. Lancet 1991, 337: 1115–18.
Farrar GJ, Kenna P, Redmond R, Shiels D, McWilliam P, Humphries MM, Sharp EM, Jordan S, Kumar-Singh R, Humphries P : Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin. Genomics 1991, 11: 1170–1.
Keen TJ, Ingleheam CF, Lester DH, Bashir R, Jay M, Bird AC, Jay B, Bhattachary SS : Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics 1991, 11: 199–205.
Inghleheam CF, Bashir R, Lester DH, Jay M, Bird AC, Bhattacharya SS : A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am J Hum Genet 1991, 48: 26–30.
Gal A, Artlich A, Ludwig M, Niemeyer G, Olek K, Schwinger E, Schinzel A : Pro347Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics 1991, 11: 468–70.
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Dryja, T. Rhodopsin and autosomal dominant retinitis pigmentosa. Eye 6, 1–10 (1992). https://doi.org/10.1038/eye.1992.2
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DOI: https://doi.org/10.1038/eye.1992.2
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