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

Visual Neuroscience

Volumn 25, Issue 3, 2008, Pages 265-271

  Gunther, Karen L ^a   Neitz, Jay ^b   Neitz, Maureen ^b  

^a WABASH COLLEGE   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Color vision; Cone opsin; Cone photoreceptor; Genes; X chromosome

Indexed keywords

OPSIN;

BASE PAIRING; BINDING AFFINITY; CONFERENCE PAPER; DNA SEQUENCE; GENE DELETION; GENE SILENCING; GENETIC LINKAGE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POLYMORPHIC LOCUS; PRIORITY JOURNAL; RETINA CONE; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME;

AFRICAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHROMOSOMES, HUMAN, X; CONES (RETINA); DNA; DNA PRIMERS; EUROPEAN CONTINENTAL ANCESTRY GROUP; HUMANS; MALE; OPSIN; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 46749092562     PISSN: 09525238     EISSN: 14698714     Source Type: Journal    
DOI: 10.1017/S0952523808080280     Document Type: Conference Paper

References (18)

1. 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.
2. 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.
3. 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.
4. DEVRIES, H.L. (1946). Luminosity curve of trichromats. Nature (London) 157, 736-737.
5. FISHER, R.A. (1918). The correlation between relatives under the supposition of mendelian inheritance. Transanctions of the Royal Society of Edinburgh 52, 399-433.
6. 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.
7. 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.
8. 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.
9. 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.
10. 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.
11. 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.
12. ROORDA, A. & WILLIAMS, D.R. (1999). The arrangement of the three cone classes in the living human eye. Nature 397, 520-522.
13. RUSHTON, W.A.H. & BAKER, H.D. (1964). Red/green sensitivity in normal vision. Vision Research 4, 75-85.
14. 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.
15. 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, Abstract #273. American Society of Human Genetics, Salt Lake City, Utah.
16. STRACHAN, T. & READ, A.P. (2000). Human Molecular Genetics 2. New York: John Wiley & Sons, Inc.
17. 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.
18. 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.