The long term goal of this research is to understand the molecular biologic basis of vision. The immediate goal of this proposal is to determine the fundamental properties of X-linked genes that encode cone pigments. To that end the specific aims are: 1. To determine (i) the number of visual pigment genes on the X-chromosome, (ii) the number of genes that encode long-wavelength sensitive pigments, and (iii) the spacing and arrangement of genes encoding middle and long wavelength sensitive pigments. 2. To characterize the cone pigments that underlie protanomalous color vision, to determine the structure of the genes that produce protanomalous pigments, and to investigate the genetic mechanisms that give rise to anomalous pigments. A model to explain the molecular genetic basis of red-green human vision formulated by Nathans et al. (Science 232:198-202, 1986) has gained wide acceptance. Key features of this model include that (i) the average number of visual pigment genes on the X-chromosome is approximately three and (ii) all individuals with normal color vision have a single long wavelength sensitive cone pigment gene. However, the available data do no support these and other basic aspects of the Nathans et al. theory. The significance of the research proposed here is that an understanding of the molecular biology of vision must be built from a base of facts about the most fundamental properties of the genes that encode the cone pigments. Theories conceived to explain the individual differences in normal color vision, common color defects, and rarer more debilitating visual defects, as well as the experiments designed to test those theories, will depend critically on knowing the possibilities allowed by the number of pigment genes, the variety of genes producing different pigments, the relative frequencies of those genes and their arrangements. Knowledge of these basic facts can guide the search for understanding of riot only the properties of the cones--their spectral sensitivities and their ratios--that underlie the diversity of human vision, but also of how the circuits for processing visual information arise. The basic features of the X-linked cone pigment genes from males with normal and color defective vision will be investigated by Southern hybridization analysis and genomic DNA will be used in the polymerase chain reaction to amplify segments of the X-linked visual pigment genes for nucleotide sequence analysis. The color vision and visual sensitivity of the subjects will be examined in detail using psychophysical methods and the electroretinogram.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
1R01EY009303-01
Application #
3266706
Study Section
Visual Sciences A Study Section (VISA)
Project Start
1991-08-01
Project End
1995-06-30
Budget Start
1991-08-01
Budget End
1992-07-31
Support Year
1
Fiscal Year
1991
Total Cost
Indirect Cost
Name
Medical College of Wisconsin
Department
Type
Schools of Medicine
DUNS #
073134603
City
Milwaukee
State
WI
Country
United States
Zip Code
53226
Schmidt, Brian P; Touch, Phanith; Neitz, Maureen et al. (2016) Circuitry to explain how the relative number of L and M cones shapes color experience. J Vis 16:18
Puller, Christian; Manookin, Michael B; Neitz, Jay et al. (2015) Broad thorny ganglion cells: a candidate for visual pursuit error signaling in the primate retina. J Neurosci 35:5397-408
Manookin, Michael B; Puller, Christian; Rieke, Fred et al. (2015) Distinctive receptive field and physiological properties of a wide-field amacrine cell in the macaque monkey retina. J Neurophysiol 114:1606-16
Puller, Christian; Manookin, Michael B; Neitz, Maureen et al. (2014) Specialized synaptic pathway for chromatic signals beneath S-cone photoreceptors is common to human, Old and New World primates. J Opt Soc Am A Opt Image Sci Vis 31:A189-94
Puller, Christian; Haverkamp, Silke; Neitz, Maureen et al. (2014) Synaptic elements for GABAergic feed-forward signaling between HII horizontal cells and blue cone bipolar cells are enriched beneath primate S-cones. PLoS One 9:e88963
Neitz, Maureen; Neitz, Jay (2014) Curing color blindness--mice and nonhuman primates. Cold Spring Harb Perspect Med 4:a017418
Foote, Katharina G; Neitz, Maureen; Neitz, Jay (2014) Comparison of the Richmond HRR 4th edition and Farnsworth-Munsell 100 Hue Test for quantitative assessment of tritan color deficiencies. J Opt Soc Am A Opt Image Sci Vis 31:A186-8
Schmidt, Brian P; Neitz, Maureen; Neitz, Jay (2014) Neurobiological hypothesis of color appearance and hue perception. J Opt Soc Am A Opt Image Sci Vis 31:A195-207
Kuchenbecker, James A; Greenwald, Scott H; Neitz, Maureen et al. (2014) Cone-isolating ON-OFF electroretinogram for studying chromatic pathways in the retina. J Opt Soc Am A Opt Image Sci Vis 31:A208-13
Godara, Pooja; Cooper, Robert F; Sergouniotis, Panagiotis I et al. (2012) Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. Am J Ophthalmol 154:987-1001.e1

Showing the most recent 10 out of 55 publications