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
Cornsweet, T.N. Visual Perception, (Academic Press, New York, 1970).
Wyszecki, G. & Stiles, W.S. Colour Science: Concepts and Methods, Quantitative Data and Formulae 2nd edn (Wiley, New York, 1982).
Kalmus, H. in Diagnosis and Genetics of Defective Colour Vision ^(Pergamon Press, Oxford, 1965).
Drummond-Borg, M., Deeb, S. & Motulsky, A.G. Proc. natn. Acad. Sci. U.S.A. 86, 983–987 (1989).
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).
Purrello, M. et al. Hum. Genet. 65, 295–299 (1984).
Nathans, J., Thomas, D. & Hogness, D.S. Science, 232, 193–202 (1986).
Vollrath, D., Nathans, J. & Davies, R.W. Science 240, 1669–1672 (1988).
Feil, R., Aubourg, P., Heiling, R. & Mandel, J.L. Genomics 6, 367–373 (1990).
Nathans, J., Piantanida, T.P., Eddy, R.L., Shows, T.B. & Hogness, D.S. Science 232, 203–210 (1986).
Deeb, S.S. et al. Am. J. hum. Genet. (in the press).
Karnik, S.S., Sakmar, T.P., Chen, H.B. & Khorana, H.G. Proc. natn. Acad. Sci. U.S.A. 85, 8459–8463 (1980).
Dixon, R.A.F. et al. EMBO J. (volume) 3269–3275 (1987).
Applebury, M.L. & Hargrave, P.A. Vision Res. 26, 1881–1895 (1986).
Dohlman, G., Thorner, J., Caron, M. & Lefkowitz, R. Annu. Rev. Biochem. 60, 653–688 (1991).
Hargrave, P.A. et al. Biophys. struct. Mech. 9, 235–244 (1983).
Nathans, J. et al. Science 245, 831–837 (1990).
Jorgensen, A.L., Deeb, S.S. & Motulsky, A.G. Proc. natn. Acad. Sci. U.S.A. 87, 6512–6516 (1990).
Fleischman, J.A. & O'Donnell, F.E. Arch. Ophthalmol. 99, 468–472 (1981).
Dryja, T.P. et al. Nature 343, 364–366 (1990).
Sung, C. et al. Proc. natn. Acad. Sci. U.S.A. 88, 6481–6485 (1991).
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).
Reichel, E., Bruce, A.M., Sandberg, M.A. & Berson, E.L. Am. J. Opthalmol. 108, 540–547 (1989).
Wright, A.F. et al. Am. J. hum. Genet. 41, 635–644 (1987).
Wirth, B. et al. Genomics 2, 263–266 (1988).
Wieacker, P. et al. Hum. Genet. 64, 143–145 (1983).
Alitalo, T., Karna, J., Forsius, H. & de la Chapelle, A. Clin. Genet. 32, 192–195 (1987).
Schwartz, M. et al. Hum. Genet. 74, 449–452 (1986).
Sankila, E.M. et al. Clin. Genet. 31, 315–322 (1987).
Linksz, A. in An Essay on Color Vision and Clinical Color-Vision Tests (Grune and Stratton, New York, 1964).
Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. & Sekiya, T. Proc. natn. Acad. Sci. U.S.A. 86, 2766–2770 (1989).
Winderickx, J. et al. (1992) Nature 356, 431–433 (1992).
Maniatis, T., Fritsch, E.F. & Sambrook, J. in Molecular Cloning; A Laboratory Manual. (Cold Spring Harbor Laboratory, NewYork. 1982).
Sanger, F., Nicklen, S. & Coulson, A.R. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).
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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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DOI: https://doi.org/10.1038/ng0792-251
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