Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

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

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.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy article

Get time limited or full article access on ReadCube.

$32.00

All prices are NET prices.

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).

    CAS  Article  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).

    CAS  Article  Google Scholar 

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

    CAS  Article  Google Scholar 

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

    CAS  Article  Google Scholar 

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

    CAS  Article  Google Scholar 

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

    CAS  Article  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).

    CAS  Article  Google Scholar 

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

    CAS  Article  Google Scholar 

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

    CAS  Article  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).

    CAS  Article  Google Scholar 

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

    CAS  Article  Google Scholar 

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

    CAS  Article  Google Scholar 

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

    CAS  Article  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).

    CAS  Article  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).

    CAS  Article  Google Scholar 

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

    CAS  Article  Google Scholar 

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

    CAS  Article  Google Scholar 

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

    CAS  Article  Google Scholar 

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

    CAS  Article  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).

    CAS  Article  Google Scholar 

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

    CAS  Article  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).

    CAS  Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and Permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0792-251

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing