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Science 11 April 1986:
Vol. 232. no. 4747, pp. 193 - 202
DOI: 10.1126/science.2937147

Articles

Science, Vol 232, Issue 4747, 193-202
Copyright © 1986 by American Association for the Advancement of Science


articles

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

J Nathans, D Thomas, and DS Hogness

Human color vision is based on three light-sensitive pigments. The isolation and sequencing of genomic and complementary DNA clones that encode the apoproteins of these three pigments are described. The deduced amino acid sequences show 41 +/- 1 percent identity with rhodopsin. The red and green pigments show 96 percent mutual identity but only 43 percent identity with the blue pigment. Green pigment genes vary in number among color-normal individuals and, together with a single red pigment gene, are proposed to reside in a head-to-tail tandem array within the X chromosome.


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Gene-based approach to human gene-phenotype correlations.
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Recombination Hot Spots and Human Disease.
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Single amino acid residue as a functional determinant of rod and cone visual pigments.
H. Imai, D. Kojima, T. Oura, S. Tachibanaki, A. Terakita, and Y. Shichida (1997)
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Interconversion of red opsin isoforms by the cyclophilin-related chaperone protein Ran-binding protein 2.
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The segment polarity gene porcupine encodes a putative multitransmembrane protein involved in Wingless processing..
T Kadowaki, E Wilder, J Klingensmith, K Zachary, and N Perrimon (1996)
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Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping..
H Chen, R Chrast, C Rossier, M A Morris, M D Lalioti, and S E Antonarakis (1996)
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R E McGuire, S A Jordan, V V Braden, G G Bouffard, P Humphries, E D Green, and S P Daiger (1996)
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Y. Wang, J. P. Macke, B. S. Abella, K. Andreasson, P. Worley, D. J. Gilbert, N. G. Copeland, N. A. Jenkins, and J. Nathans (1996)
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RER, an Evolutionarily Conserved Sequence Upstream of the Rhodopsin Gene, Has Enhancer Activity.
Z. Nie, S. Chen, R. Kumar, and D. J. Zack (1996)
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Genetic Approaches to Mammalian Olfaction.
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A Novel Cytochrome P450 Expressed Primarily in Brain.
G. Stapleton, M. Steel, M. Richardson, J. O. Mason, K. A. Rose, R. G. M. Morris, and R. Lathe (1995)
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Sequence Analysis and Chromosomal Localization of Human Cap Z.
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K M Timms, F Lu, Y Shen, C A Pierson, D M Muzny, Y Gu, D L Nelson, and R A Gibbs (1995)
Genome Res. 5, 71-78
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Selective Loss of Blue Cones and Rods in Human Retinal Detachment.
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Pineal opsin: a nonvisual opsin expressed in chick pineal.
M Max, P. McKinnon, K. Seidenman, R. Barrett, M. Applebury, J. Takahashi, and R. Margolskee (1995)
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The chemistry of John Dalton's color blindness.
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Numbers and ratios of visual pigment genes for normal red-green color vision.
M Neitz and J Neitz (1995)
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Repair and Replacement to Restore Sight: Report From the Panel on Photoreceptor/Retinal Pigment Epithelium.
D. Bok, G. S. Hageman, R. H. Steinberg, and Photoreceptor/Retinal Pigment Epithelium Panel (1993)
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Absorption spectra of the hybrid pigments responsible for anomalous color vision.
S. Merbs and J Nathans (1992)
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Molecular Biology of Smell: Expression of the Multigene Family Encoding Putative Odorant Receptors.
A. Chess, L. Buck, M.M. Dowling, R. Axel, and J. Ngai (1992)
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Spectral tuning of pigments underlying red-green color vision.
M Neitz, J Neitz, and G. Jacobs (1991)
Science 252, 971-974
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Visual Pigments, Blue Cone Monochromasy, and Retinitis Pigmentosa.
F. Wong (1990)
Arch Ophthalmol 108, 935-936
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Protein-Chromophore Interactions in Rhodopsin Studied by Site-directed Mutagenesis.
J. Nathans (1990)
Cold Spring Harb Symp Quant Biol 55, 621-633
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Cone Excitations and Color Vision.
T.W. Kraft, C.L. Marino, R.A. Mathies, J. Lugtenburg, J.L. Schnapf, and D.A. Baylor (1990)
Cold Spring Harb Symp Quant Biol 55, 635-641
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Effect of carboxylic acid side chains on the absorption maximum of visual pigments.
E. Zhukovsky and D. Oprian (1989)
Science 246, 928-930
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Molecular genetics of human blue cone monochromacy.
J Nathans, C. Davenport, I. Maumenee, R. Lewis, J. Hejtmancik, M Litt, E Lovrien, R Weleber, B Bachynski, F Zwas, et al. (1989)
Science 245, 831-838
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D. Rees, L DeAntonio, and D Eisenberg (1989)
Science 245, 510-513
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Rod Cell-Specific Antigens in Retinoblastoma.
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Arch Ophthalmol 107, 1061-1063
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Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity.
G Sarkar and S. Sommer (1989)
Science 244, 331-334
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A chemoattractant receptor controls development in Dictyostelium discoideum.
P. Klein, T. Sun, C. Saxe 3rd, A. Kimmel, R. Johnson, and P. Devreotes (1988)
Science 241, 1467-1472
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Tandem array of human visual pigment genes at Xq28.
D Vollrath, J Nathans, and R. Davis (1988)
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Cone cell-specific genes expressed in retinoblastoma.
E Bogenmann, M. Lochrie, and M. Simon (1988)
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Functional Role of Muscarinic Acetylcholine Receptor Subtype Diversity.
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Molecular Basis of Visual Excitation.
L. Stryer (1988)
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Structure-Function Analysis of the {beta}-Adrenergic Receptor.
R.A.F. Dixon, I.S. Sigal, and C.D. Strader (1988)
Cold Spring Harb Symp Quant Biol 53, 487-497
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A synaptic vesicle protein with a novel cytoplasmic domain and four transmembrane regions.
T. Sudhof, F Lottspeich, P Greengard, E Mehl, and R Jahn (1987)
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A New Phase in the Study of Human Inherited Eye Diseases.
F. Wong (1987)
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T. Bonner, N. Buckley, A. Young, and M. Brann (1987)
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