Rhodopsin splice site sequence changes in retinitis pigmentosa and their effect at the mRNA level
Corresponding Author
Jennifer L. Whitehead
Department of Medical Genetics, University of Aberdeen, Aberdeen, Scotland
Department of Medical Genetics, University of Aberdeen Medical School, Aberdeen AB25 2ZD, Scotland, UK; Fax: (01224) 662839Search for more papers by this authorChristine Bell
Department of Medical Genetics, University of Aberdeen, Aberdeen, Scotland
Search for more papers by this authorCarolyn A. Converse
Department of Pharmaceutical Sciences, University of Strathclyde, Glasgow, Scotland
Search for more papers by this authorHarold M. Hammer
Tennent Institute of Ophthalmology, University of Glasgow, Glasgow, Scotland
Search for more papers by this authorNeva E. Haites
Department of Medical Genetics, University of Aberdeen, Aberdeen, Scotland
Search for more papers by this authorCorresponding Author
Jennifer L. Whitehead
Department of Medical Genetics, University of Aberdeen, Aberdeen, Scotland
Department of Medical Genetics, University of Aberdeen Medical School, Aberdeen AB25 2ZD, Scotland, UK; Fax: (01224) 662839Search for more papers by this authorChristine Bell
Department of Medical Genetics, University of Aberdeen, Aberdeen, Scotland
Search for more papers by this authorCarolyn A. Converse
Department of Pharmaceutical Sciences, University of Strathclyde, Glasgow, Scotland
Search for more papers by this authorHarold M. Hammer
Tennent Institute of Ophthalmology, University of Glasgow, Glasgow, Scotland
Search for more papers by this authorNeva E. Haites
Department of Medical Genetics, University of Aberdeen, Aberdeen, Scotland
Search for more papers by this author
References
- Bell C, Converse CA, Collins MF, Esakowitz L, Kelly KF, Haites NE (1992) Autosomal dominant retinitis pigmentosa (ADRP): A rhodopsin mutation in a Scottish family. J Med Genet 29: 667–668.
- Bell C, Converse CA, Hammer HM, Osborne A, Haites NE (1994) Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four. Br J Ophthalmol 78: 933–938.
- Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH (1984) Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol 97: 357–365.
- Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL (1991) Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 88: 9370–9374.
- Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo, ML, Monaco AP, Haites NE (1994) Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Mol Genet 3: 29–34.
- Kaushal S, Khorana HG (1994) Structure and function in rhodopsin. Point mutations associated with autosomal dominant retinitis pigmentosa. Biochemistry 33: 6121–6128.
- Orita M, Suzuki Y, Sekiya T, Hayashi, K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874–879.
- Sung CH, Schneider BG, Agarwal N. Papermaster DS, Nathans J (1991) Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 88: 8840–8844.
- Sung CH, Davenport CM, Nathans J (1993) Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. J Biol Chem 268: 26645–26649.
- Sung CH, Makino C, Baylor D, Nathans J (1994) A rhodopsin mutation 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.
- Weiss ER, Osawa S, Shi W, Dickerson CD (1994) Effects of carboxylterminal truncation on the stability and G protein-coupling activity of bovine rhodopsin. Biochemistry 33: 7587–7593.