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Nucleotide polymorphisms upstream of the X-chromosome opsin gene array tune L:M cone ratio

Published online by Cambridge University Press:  03 July 2008

KAREN L. GUNTHER ,
JAY NEITZ  and
MAUREEN NEITZ
KAREN L. GUNTHER
Affiliation:
Department of Psychology, Wabash College, Crawfordsville, Indiana
JAY NEITZ
Affiliation:
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin
MAUREEN NEITZ*
Affiliation:
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin
*
Address correspondence and reprint requests to: Maureen Neitz, Department of Ophthalmology, Medical College of Wisconsin, 925 North 87thStreet, Milwaukee, WI 53226-4812. E-mail: mneitz@mcw.edu
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Abstract

In support of the long-held idea that cone ratio is genetically determined by variation linked to the X-chromosome opsin gene locus, the present study identified nucleotide differences in DNA segments containing regulatory regions of the L and M opsin genes that are associated with significant differences in the relative number of L versus M cones. Specific haplotypes (combinations of genetic differences) were identified that correlated with high versus low L:M cone ratio. These findings are consistent with the biological principle that DNA sequence variations affect binding affinities for protein components of complexes that influence the relative probability that an L versus M opsin gene will be silenced during development, and in turn, produce variation in the proportion of L to M cones.

Keywords

Cone photoreceptorColor visionX-chromosomeCone opsinGenes
Type
Research Article
Information
Visual Neuroscience , Volume 25 , Issue 3 , May 2008 , pp. 265 - 271
Copyright
Copyright © Cambridge University Press 2008

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References

REFERENCES

Bumsted, K., Jasoni, C., Szel, A. & Hendrickson, A. (1997). Spatial and temporal expression of cone opsins during monkey retinal development. Journal of Comparative Neurology 378, 117–134.3.0.CO;2-7>CrossRefGoogle ScholarPubMed
Carroll, J., Neitz, M. & Neitz, J. (2002). Estimates of L:M cone ratio from ERG flicker photometry and genetics. Journal of Vision 2, 531–542.CrossRefGoogle ScholarPubMed
Dartnall, H.J.A., Bowmaker, J.K. & Mollon, J.D. (1983). Human visual pigments: Microspectrophotometric results from the eye of seven persons. Proceedings of the Royal Society of London B 220, 115–130.Google ScholarPubMed
DeVries, H.L. (1946). Luminosity curve of trichromats. Nature (London) 157, 736–737.CrossRefGoogle Scholar
Fisher, R.A. (1918). The correlation between relatives under the supposition of mendelian inheritance. Transanctions of the Royal Society of Edinburgh 52, 399–433.CrossRefGoogle Scholar
Gunther, K.L., Neitz, J. & Neitz, M. (2006). A novel mutation in the short-wavelength sensitive cone pigment gene associated with a tritan color vision defect. Visual Neuroscience 23, 403–409.CrossRefGoogle ScholarPubMed
Hagstrom, S.A., Neitz, M. & Neitz, J. (2000). Cone pigment gene expression in individual photoreceptors and the chromatic topography of the retina. Journal of the Optical Society of America A-Optics Image Science and Vision 17, 527–537.CrossRefGoogle ScholarPubMed
Hofer, H., Carroll, J., Neitz, J., Neitz, M. & Williams, D.R. (2005). Organization of the human trichromatic cone mosaic. Journal of Neuroscience 25, 9669–9679.CrossRefGoogle ScholarPubMed
Knoblauch, K., Neitz, M. & Neitz, J. (2006). An urn model of the development of L/M cone ratios in human and macaque retina. Visual Neuroscience 23, 591–596.CrossRefGoogle Scholar
McMahon, C., Carroll, J., Awua, S., Neitz, J. & Neitz, M. (2008). The L:M cone ratio in males of African descent with normal color vision. Journal of Vision 8, 1–9.CrossRefGoogle Scholar
Pokorny, J., Smith, V.C. & Wesner, M.F. (1991). Variability in cone populations and implications. In From Pigments to Perception: Advances in Understanding Visual Processes, ed. Valberg, A. & Lee, B.B., pp. 23–33. New York: Plenum Press.CrossRefGoogle Scholar
Roorda, A. & Williams, D.R. (1999). The arrangement of the three cone classes in the living human eye. Nature 397, 520–522.CrossRefGoogle ScholarPubMed
Rushton, W.A.H. & Baker, H.D. (1964). Red/green sensitivity in normal vision. Vision Research 4, 75–85.CrossRefGoogle Scholar
Smallwood, P.M., Wang, Y. & Nathans, J. (2002). Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genes. Proceedings of the National Academy of Sciences: USA 99, 1008–1011.CrossRefGoogle ScholarPubMed
Stamatoyannopoulos, J., Thurman, R., Noble, W., Kutyavin, T., Shafer, A., Dorschner, M. & Deeb, S.S. (2005). Quantitative phenotype variation in long-and middle-wave cone photoreceptors due to polymorphism in an upstream insulator element. In American Society of Human Genetics, pp. Abstract #273. American Society of Human Genetics, Salt Lake City, Utah.Google Scholar
Strachan, T. & Read, A.P. (2000). Human Molecular Genetics 2. New York: John Wiley & Sons, Inc.Google Scholar
Venter, C.J., Adams, M.D., Myers, E.W., Li, P.W., Mural, R.J., Sutton, G.G., Amanatides, P., Ballew, R.M., Huson, D.H., Wortman, J.R., Zhnag, Q. & Kodira, C.D. (2001). The sequence of the human genome. Science 291, 1304–1351.CrossRefGoogle ScholarPubMed
Verrelli, B.C. & Tishkoff, S.A. (2004). Signatures of selection and gene conversion associated with human color vision variation. American Journal of Human Genetics 75, 363–375.CrossRefGoogle ScholarPubMed