A large number of mutations have been isolated which affect the phototransduction process in D. melanogaster. Such mutants are of importance in understanding certain clinical conditions. Many disorders of the human eye are genetic in orgin, and animal models are extremely valuable to inquire into the genetic bases of these disorders. Drosophila mutants exists which exhibit phenotypes analogous to those observed in human retinal degenerative diseases, such as retinitis pigmentosa. Conditions found in certain forms of color blindness (protanopia and deuteropia) are also observed in several types of Drosophila photoreceptor mutants. The initial objective of the proposed study is to isolate cloned segments of Drosophila DNA from two gene loci known to be involved in photoreceptor function (the norp A and nina E loci). The molecular organization of these genes will be examined in wild type genomic DNA, in addition to DNAs isolated from a large number of different nina E and norp A mutants. In this way it should be possible to determine how changes in the organization and structure of these genes is correlated with photoreceptor potential defects, altered behavioral response, and blindness. The complex complementation pattern observed for nina E mutations will be examined at the molecular level to ascertain whether or not the nina E region contains several distinct but related genes involved in phototransduction. The long term experimental plan also includes the subsequent isolation and characterization of nina E and norp A RNA transcripts and protein products. D. melanogaster DNA sequences exist which appear to be homologous to several cDNA clones prepared from bovine retina mRNA. These bovine homologous regions of the Drosophila genome will be isolated to study their possible genetic role in retina structure and/or function.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
5R01EY004767-07
Application #
3259245
Study Section
Genetics Study Section (GEN)
Project Start
1983-04-01
Project End
1992-09-29
Budget Start
1989-09-30
Budget End
1990-09-29
Support Year
7
Fiscal Year
1989
Total Cost
Indirect Cost
Name
Purdue University
Department
Type
Schools of Arts and Sciences
DUNS #
072051394
City
West Lafayette
State
IN
Country
United States
Zip Code
47907
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Pak, W L (1991) Molecular genetic studies of photoreceptor function using Drosophila mutants. Prog Clin Biol Res 362:1-32
Shortridge, R D; Yoon, J; Lending, C R et al. (1991) A Drosophila phospholipase C gene that is expressed in the central nervous system. J Biol Chem 266:12474-80
Yoon, J; Shortridge, R D; Bloomquist, B T et al. (1989) Molecular characterization of Drosophila gene encoding G0 alpha subunit homolog. J Biol Chem 264:18536-43
Schneuwly, S; Shortridge, R D; Larrivee, D C et al. (1989) Drosophila ninaA gene encodes an eye-specific cyclophilin (cyclosporine A binding protein). Proc Natl Acad Sci U S A 86:5390-4
O'Tousa, J E; Baehr, W; Martin, R L et al. (1985) The Drosophila ninaE gene encodes an opsin. Cell 40:839-50