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

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.

[1]  T. Sekiya,et al.  Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[2]  T. L. McGee,et al.  Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[3]  J. Winderickx,et al.  Polymorphism in red photopigment underlies variation in colour matching , 1992, Nature.

[4]  M. Sandberg,et al.  An electroretinographic and molecular genetic study of X-linked cone degeneration. , 1989, American journal of ophthalmology.

[5]  David W. Yandell,et al.  A point mutation of the rhodopsin gene in one form of retinitis pigmentosa , 1990, Nature.

[6]  F. Sanger,et al.  DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[7]  A. Chapelle,et al.  X‐linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85 , 1987, Clinical genetics.

[8]  B. Wirth,et al.  Two different genes for X-linked retinitis pigmentosa. , 1988, Genomics.

[9]  J. Nathans,et al.  Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. , 1986, Science.

[10]  A. Motulsky,et al.  Molecular genetics of X chromosome-linked color vision among populations of African and Japanese ancestry: high frequency of a shortened red pigment gene among Afro-Americans. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[11]  Arthur Linksz,et al.  An Essay on Color Vision and Clinical Color-Vision Tests , 1964 .

[12]  P. Hargrave,et al.  Molecular biology of the visual pigments , 1986, Vision Research.

[13]  C. M. Davenport,et al.  Molecular genetics of human blue cone monochromacy. , 1989, Science.

[14]  J. Fleischman,et al.  Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus. , 1981, Archives of ophthalmology.

[15]  Gunther Wyszecki,et al.  Color Science: Concepts and Methods, Quantitative Data and Formulae, 2nd Edition , 2000 .

[16]  H. Kalmus,et al.  Diagnosis and genetics of defective colour vision , 1966 .

[17]  A. Motulsky,et al.  Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[18]  J Nathans,et al.  Tandem array of human visual pigment genes at Xq28. , 1988, Science.

[19]  Tom N. Cornsweet.  XIV – TEMPORAL PROPERTIES OF THE VISUAL SYSTEM , 1970 .

[20]  R. Weale,et al.  Congenital and Acquired Colour Vision Defects , 1981 .

[21]  J. Nathans,et al.  Molecular genetics of inherited variation in human color vision. , 1986, Science.

[22]  C. M. Davenport,et al.  Rhodopsin mutations in autosomal dominant retinitis pigmentosa. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[23]  A. Bird,et al.  Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14. , 1987, American journal of human genetics.

[24]  C. Strader,et al.  Structural features required for ligand binding to the beta‐adrenergic receptor. , 1987, The EMBO journal.

[25]  A. Chapelle,et al.  Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical‐genealogical evidence , 1987, Clinical genetics.

[26]  H. Khorana,et al.  Cysteine residues 110 and 187 are essential for the formation of correct structure in bovine rhodopsin. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[27]  R. Heilig,et al.  A 195-kb cosmid walk encompassing the human Xq28 color vision pigment genes. , 1990, Genomics.

[28]  J. Thorner,et al.  Model systems for the study of seven-transmembrane-segment receptors. , 1991, Annual review of biochemistry.