Abstract
Mutations in the RDS gene, which encodes the photoreceptor glycoprotein peripherin, have been sought in families with autosomal dominant retinal dystrophies. A cysteine deletion at codon 118/119 is associated with retinitis pigmentosa in one. Three families with similar macular dystrophy have mutations at codon 172, arginine being substituted by tryptophan in two and by glutamine in one. A stop sequence at codon 258 exists in a family with adult vitelliform macular dystrophy. These findings demonstrate that both retinitis pigmentosa and macular dystrophies are caused by mutations in RDS and that the functional significance of certain amino–acids in peripherin–RDS may be different in cones and rods.
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References
McWilliam, P. et al. Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3. Genomics 5, 619–622 (1989).
Dryja, T.P. et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343, 364–366 (1990).
Dryja, T.P. et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. New Engl. J. Med. 323, 1302–1307 (1990).
Sung, C.H. et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc. natn. Acad. Sci. U.S.A. 88, 6481–6485 (1991).
Keen, T.J. et al. Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them at the retinal attachment site. Genomics, 11, 199–205 (1991).
Inglehearn, C.F. et al. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum. molec. Genet. 1, 41–45 (1992).
Lester, D.H. et al. Linkage to D3S47 (C17) in one large dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity. Am. J. hum. Genet. 47, 536–541 (1990).
Blanton, S.H. et al. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 11, 857–869 (1991).
Farrar, G.J. et al. Autosomal dominant retinitis pigmentosa; localization of a disease gene (RP6) to the short arm of chromosome 6. Genomics 11, 870–874 (1991).
Keen, T.J., Lester, D.H., Inglehearn, C.F., Curtis, A. & Bhattacharya, S.S. Rapid detection of single base mismatches as heteroduplexes on hydrolink gels. Trends Genet. 7, 5–10 (1991).
Farrar, G.J. et al. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 354, 478–480 (1991).
Kajiwara, K. et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354, 480–483 (1991).
Travis, G.H., Brennan, M.B., Danielson, P.E., Kozak, C.A. & Sutcliffe, J.G. Identification of a photoreceptor-specific mRNA encoded be the gene responsible for retinal degeneration slow (rds). Nature 338, 70–73 (1989).
Connell, G. et al. Photoreceptor cell peripherin is the normal product of the gene responsible for the retinal degeneration in the rds mouse. Proc. natn. Acad. Sci. U.S.A. 88, 723–726 (1991).
Connell, G. & Molday, R.S. Molecular cloning, primary structure and orientation of the vertebrate photoreceptor cell protein peripherin in the rod disc membrane. Biochemistry 29, 4691–4698 (1990).
Travis, G., Sutcliffe, J.G. & Bok, D. The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane associated glycoprotein. Neuron 6, 61–70 (1991).
Arokawa, K., Molday, L.L., Molday, R.S. & Williams, D.S. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors; relationship to disc membrane morphogenesis and retinal degeneration. J. Cell biol. 116, 659–667 (1992).
Bascom, R.A. et al. 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 (1992).
Hawkins, R.K., Jansen, H.G. & Sanyal, S. Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes. Exp. eye Res. 41, 701–720 (1985).
Sanyal, S. & Hawkins, R.K. Development and degeneration of retina in rds mutant mice. Altered disc shedding pattern in the albino heterozygotes and its relation to light exposure. Vis. Res. 28, 1171–1178 (1988).
Rosenfeld, P.J. et al. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction in autosomal recessive retinitis pigmentosa. Nature Genet. 1, 209–213 (1992).
Jacobson, S.G. et al. Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa. Ophthalmology 93, 1604–1611 (1968).
Arden, G.B., Gunduz, K. & Perry, S. Colour vision testing with a computer system. Clin. Vision Sci. 2, 303–320 (1988).
Marmor, M.F., Arden, G.B., Nilson, S.E. & Zrenner, E. Standard for clinical electroretinography. Arch. Ophthal. 107, 816–819 (1989).
Arden, G.B. et al. A modified ERG technique and the results obtained in X-Linked retinitis pigmentosa. Br. J. Ophthalmol. 67, 419–430 (1983).
Arden, G.B. & Vaegan Electroretinogramms evoked in man by local uniform and pattern stimulation. J. Physiolol. 341, 85–104 (1983).
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Wells, J., Wroblewski, J., Keen, J. et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 3, 213–218 (1993). https://doi.org/10.1038/ng0393-213
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DOI: https://doi.org/10.1038/ng0393-213
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