Abstract
THE gene for autosomal dominant retinitis pigmentosa in a large pedigree of Irish origin has recently been found to be linked to an anonymous polymorphic sequence, D3S47 (C17), from the long arm of chromosome 3 (refs 1, 2). As the gene coding for rhodopsin is also assigned to the long arm of chromosome 3 (refs 3, 4) and is expressed in rod photoreceptors that are affected early in this blinding disease5, we searched for a mutation of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. We found a C→A transversion in codon 23 (corresponding to a proline →histidine substitution) in 17 of 148 unrelated patients and not in any of 102 unaffected individuals. This result, coupled with the fact that the proline normally present at position 23 is highly conserved among the opsins and related G-protein receptors6, indicates that this mutation could be the cause of one form of autosomal dominant retinitis pigmentosa.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
McWilliam, P. et al. Genomics 5, 619–622 (1989).
Donis-Keller, H. et al. Cell 51, 319–337 (1987).
Nathans, J. et al. Science 232, 203–210 (1986).
Sparkes, R. S. et al. Invest. Ophthalmol. Vis. Sci. 27, 1170–1172 (1986).
Mandelbaum, J. Arch. Ophthalmol. 26, 203–239 (1941).
Applebury, M. L. & Hargrave, P. A. Vision Res. 26, 1881–1895 (1986).
Boughman, J. A., Conneally, P. M. & Nance, W. E. Am. J. Hum. Genet. 32, 223–235 (1980).
Bunker, C. H. et al. Am. J. Ophthalmol. 97, 357–365 (1984).
Chen, J. et al. Am. J. Hum. Genet. 45, 401–411 (1989).
Duke-Elder, S. & Dobrie, J. H. System of Ophthalmology, X: Diseases of the Retina (ed. Duke-Elder, S.) 574–622 (Mosby, St Louis, 1967).
Karpe, G. Acta Ophthalmol. (Suppl.) 24, 84 (1945).
Goodman, G. & Gunkel, R. D. Am. J. Ophthalmol. 46, 142–178 (1958).
Berson, E. L. Trans. Pa. Acad. Ophthalmol. Otolaryngol. 26, 109–113 (1973).
Verhoeff, F. H. Arch. Ophthalmol. 5, 392–407 (1931).
Cogan, D. G. Trans. Am. Acad. Ophthalmol. Otolaryngol. 54, 629–661 (1949–1950).
Berson, E. L. Trans. Am. Acad. Ophthalmol. Otolaryngol. 81, 659–666 (1976).
Weber, J. L. & May, P. E. Am. J. Hum. Genet. 44, 388–396 (1989).
Berson, E. L., Gouras, P. & Gunkel, R. D. Arch. Ophthalmol. 80, 58–67 (1968).
Berson, E. L. & Simonoff, E. A. Arch. Ophthalmol. 97, 1286–1291 (1979).
Kobilka, B. K. et al. Nature 329, 75–79 (1987).
Nathans, J. & Hogness, D. S. Proc. natn. Acad. Sci. U.S.A. 81, 4851–4855 (1984).
Yandell, D. W. & Dryja, T. P. Cold Spring Harbor Symposium Series: Cancer Cells 7—Molecular Diagnostics of Human Cancer (eds Furth, M. & Greaves, M.) 223–227 (Cold Spring Harbor Press, New York, 1989).
Verlaan-de Vries, M. et al. Gene 50, 313–320 (1986).
Farr, C. J. et al. Proc. natn. Acad. Sci. U.S.A. 85, 1629–1633 (1988).
Reichel, E., Bruce, A. M., Sandberg, M. A. & Berson, E. L. Am. J. Ophthalmol. 108, 540–547 (1989).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Dryja, T., McGee, T., Reichel, E. et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343, 364–366 (1990). https://doi.org/10.1038/343364a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/343364a0
This article is cited by
-
Aggregation of rhodopsin mutants in mouse models of autosomal dominant retinitis pigmentosa
Nature Communications (2024)
-
Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population
Japanese Journal of Ophthalmology (2024)
-
Bilateral angle closure glaucoma with retinitis pigmentosa in young patients: case series
BMC Ophthalmology (2023)
-
Gene augmentation for autosomal dominant retinitis pigmentosa using rhodopsin genomic loci nanoparticles in the P23H+/− knock-in murine model
Gene Therapy (2023)
-
Earliest molecular events of vision revealed
Nature (2023)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.
