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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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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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