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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa


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.

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  1. McWilliam, P. et al. Genomics 5, 619–622 (1989).

    Article  CAS  Google Scholar 

  2. Donis-Keller, H. et al. Cell 51, 319–337 (1987).

    Article  CAS  Google Scholar 

  3. Nathans, J. et al. Science 232, 203–210 (1986).

    Article  ADS  CAS  Google Scholar 

  4. Sparkes, R. S. et al. Invest. Ophthalmol. Vis. Sci. 27, 1170–1172 (1986).

    CAS  PubMed  Google Scholar 

  5. Mandelbaum, J. Arch. Ophthalmol. 26, 203–239 (1941).

    Article  Google Scholar 

  6. Applebury, M. L. & Hargrave, P. A. Vision Res. 26, 1881–1895 (1986).

    Article  CAS  Google Scholar 

  7. Boughman, J. A., Conneally, P. M. & Nance, W. E. Am. J. Hum. Genet. 32, 223–235 (1980).

    CAS  PubMed  PubMed Central  Google Scholar 

  8. Bunker, C. H. et al. Am. J. Ophthalmol. 97, 357–365 (1984).

    Article  CAS  Google Scholar 

  9. Chen, J. et al. Am. J. Hum. Genet. 45, 401–411 (1989).

    CAS  PubMed  PubMed Central  Google Scholar 

  10. Duke-Elder, S. & Dobrie, J. H. System of Ophthalmology, X: Diseases of the Retina (ed. Duke-Elder, S.) 574–622 (Mosby, St Louis, 1967).

    Google Scholar 

  11. Karpe, G. Acta Ophthalmol. (Suppl.) 24, 84 (1945).

    Google Scholar 

  12. Goodman, G. & Gunkel, R. D. Am. J. Ophthalmol. 46, 142–178 (1958).

    Article  CAS  Google Scholar 

  13. Berson, E. L. Trans. Pa. Acad. Ophthalmol. Otolaryngol. 26, 109–113 (1973).

    CAS  PubMed  Google Scholar 

  14. Verhoeff, F. H. Arch. Ophthalmol. 5, 392–407 (1931).

    Article  Google Scholar 

  15. Cogan, D. G. Trans. Am. Acad. Ophthalmol. Otolaryngol. 54, 629–661 (1949–1950).

    Google Scholar 

  16. Berson, E. L. Trans. Am. Acad. Ophthalmol. Otolaryngol. 81, 659–666 (1976).

    Google Scholar 

  17. Weber, J. L. & May, P. E. Am. J. Hum. Genet. 44, 388–396 (1989).

    CAS  PubMed  PubMed Central  Google Scholar 

  18. Berson, E. L., Gouras, P. & Gunkel, R. D. Arch. Ophthalmol. 80, 58–67 (1968).

    Article  CAS  Google Scholar 

  19. Berson, E. L. & Simonoff, E. A. Arch. Ophthalmol. 97, 1286–1291 (1979).

    Article  CAS  Google Scholar 

  20. Kobilka, B. K. et al. Nature 329, 75–79 (1987).

    Article  ADS  CAS  Google Scholar 

  21. Nathans, J. & Hogness, D. S. Proc. natn. Acad. Sci. U.S.A. 81, 4851–4855 (1984).

    Article  ADS  CAS  Google Scholar 

  22. 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).

    Google Scholar 

  23. Verlaan-de Vries, M. et al. Gene 50, 313–320 (1986).

    Article  CAS  Google Scholar 

  24. Farr, C. J. et al. Proc. natn. Acad. Sci. U.S.A. 85, 1629–1633 (1988).

    Article  ADS  CAS  Google Scholar 

  25. Reichel, E., Bruce, A. M., Sandberg, M. A. & Berson, E. L. Am. J. Ophthalmol. 108, 540–547 (1989).

    Article  CAS  Google Scholar 

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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).

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