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Defective colour vision associated with a missense mutation in the human green visual pigment gene

Nature Genetics volume 1, pages 251–256 (1992)Cite this article

Abstract

All red/green colour vision defects described so far have been associated with gross rearrangements within the red/green opsin gene array (Xq28). We now describe a male with severe deuteranomaly without such a rearrangement. A substitution of a highly conserved cysteine by arginine at position 203 in the green opsins presumably accounted for his colour vision defect. Surprisingly, this mutation was fairly common (2%) in the population but apparently was not always expressed. In analogy with non–expression of some 5′ green–red hybrid genes in persons with normal colour vision, we suggest that failure of manifestation occurs when the mutant gene is located at a distal (3′) position among several green opsin genes. This mutation might also predispose to certain X–linked retinal dystrophies.

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References

  1. Cornsweet, T.N. Visual Perception, (Academic Press, New York, 1970).

    Chapter  Google Scholar 

  2. Wyszecki, G. & Stiles, W.S. Colour Science: Concepts and Methods, Quantitative Data and Formulae 2nd edn (Wiley, New York, 1982).

    Google Scholar 

  3. Kalmus, H. in Diagnosis and Genetics of Defective Colour Vision ^(Pergamon Press, Oxford, 1965).

    Google Scholar 

  4. Drummond-Borg, M., Deeb, S. & Motulsky, A.G. Proc. natn. Acad. Sci. U.S.A. 86, 983–987 (1989).

    Article  CAS  Google Scholar 

  5. Pinckers, A.J.L.G., Pokorny, J., Smith, V.C. & Verriest, G. in Congenital and Acquired Colour Vision Defects (eds Pockorny, J., Smith, V>C. Verriest, G. & Pinkers, A.J.L.G.) (Grune and Stratton, New York, 1979).

    Google Scholar 

  6. Purrello, M. et al. Hum. Genet. 65, 295–299 (1984).

    Article  CAS  Google Scholar 

  7. Nathans, J., Thomas, D. & Hogness, D.S. Science, 232, 193–202 (1986).

    Article  CAS  Google Scholar 

  8. Vollrath, D., Nathans, J. & Davies, R.W. Science 240, 1669–1672 (1988).

    Article  CAS  Google Scholar 

  9. Feil, R., Aubourg, P., Heiling, R. & Mandel, J.L. Genomics 6, 367–373 (1990).

    Article  CAS  Google Scholar 

  10. Nathans, J., Piantanida, T.P., Eddy, R.L., Shows, T.B. & Hogness, D.S. Science 232, 203–210 (1986).

    Article  CAS  Google Scholar 

  11. Deeb, S.S. et al. Am. J. hum. Genet. (in the press).

  12. Karnik, S.S., Sakmar, T.P., Chen, H.B. & Khorana, H.G. Proc. natn. Acad. Sci. U.S.A. 85, 8459–8463 (1980).

    Article  Google Scholar 

  13. Dixon, R.A.F. et al. EMBO J. (volume) 3269–3275 (1987).

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

    Article  CAS  Google Scholar 

  15. Dohlman, G., Thorner, J., Caron, M. & Lefkowitz, R. Annu. Rev. Biochem. 60, 653–688 (1991).

    Article  CAS  Google Scholar 

  16. Hargrave, P.A. et al. Biophys. struct. Mech. 9, 235–244 (1983).

    Article  CAS  Google Scholar 

  17. Nathans, J. et al. Science 245, 831–837 (1990).

    Article  Google Scholar 

  18. Jorgensen, A.L., Deeb, S.S. & Motulsky, A.G. Proc. natn. Acad. Sci. U.S.A. 87, 6512–6516 (1990).

    Article  CAS  Google Scholar 

  19. Fleischman, J.A. & O'Donnell, F.E. Arch. Ophthalmol. 99, 468–472 (1981).

    Article  CAS  Google Scholar 

  20. Dryja, T.P. et al. Nature 343, 364–366 (1990).

    Article  CAS  Google Scholar 

  21. Sung, C. et al. Proc. natn. Acad. Sci. U.S.A. 88, 6481–6485 (1991).

    Article  CAS  Google Scholar 

  22. Drya, T.P., Hahn, L.B., Cowley, G.S., McGee, T.L. & Berson, E.L. Proc. natn. Acad. Sci. U.S.A. 88, 9370–9374 (1991).

    Article  Google Scholar 

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

    Article  CAS  Google Scholar 

  24. Wright, A.F. et al. Am. J. hum. Genet. 41, 635–644 (1987).

    CAS  PubMed  PubMed Central  Google Scholar 

  25. Wirth, B. et al. Genomics 2, 263–266 (1988).

    Article  CAS  Google Scholar 

  26. Wieacker, P. et al. Hum. Genet. 64, 143–145 (1983).

    Article  CAS  Google Scholar 

  27. Alitalo, T., Karna, J., Forsius, H. & de la Chapelle, A. Clin. Genet. 32, 192–195 (1987).

    Article  CAS  Google Scholar 

  28. Schwartz, M. et al. Hum. Genet. 74, 449–452 (1986).

    Article  CAS  Google Scholar 

  29. Sankila, E.M. et al. Clin. Genet. 31, 315–322 (1987).

    Article  CAS  Google Scholar 

  30. Linksz, A. in An Essay on Color Vision and Clinical Color-Vision Tests (Grune and Stratton, New York, 1964).

    Book  Google Scholar 

  31. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. & Sekiya, T. Proc. natn. Acad. Sci. U.S.A. 86, 2766–2770 (1989).

    Article  CAS  Google Scholar 

  32. Winderickx, J. et al. (1992) Nature 356, 431–433 (1992).

    Article  CAS  Google Scholar 

  33. Maniatis, T., Fritsch, E.F. & Sambrook, J. in Molecular Cloning; A Laboratory Manual. (Cold Spring Harbor Laboratory, NewYork. 1982).

    Google Scholar 

  34. Sanger, F., Nicklen, S. & Coulson, A.R. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).

    Article  CAS  Google Scholar 

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Author notes

  1. Delwin T. Lindsey

    Present address: Center for Cognitive Science, Ohio State University, Columbus, Ohio, 43210

Authors and Affiliations

  1. Department of Medicine, University of Washington, Seattle, Washington, 98195, USA

    Joris Winderickx, Arno G. Motulsky & Samir S. Deeb

  2. Department of Psychology, University of Washington, Seattle, Washington, 98195, USA

    Elizabeth Sanocki, Delwin T. Lindsey & Davida Y. Teller

  3. Department of Physiology/Biophysics, University of Washington, Seattle, Washington, 98195, USA

    Davida Y. Teller

  4. Department of Genetics, University of Washington, Seattle, Washington, 98195, USA

    Arno G. Motulsky & Samir S. Deeb

Authors
  1. Joris Winderickx
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  2. Elizabeth Sanocki
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  3. Delwin T. Lindsey
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  4. Davida Y. Teller
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  5. Arno G. Motulsky
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  6. Samir S. Deeb
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Winderickx, J., Sanocki, E., Lindsey, D. et al. Defective colour vision associated with a missense mutation in the human green visual pigment gene. Nat Genet 1, 251–256 (1992). https://doi.org/10.1038/ng0792-251

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