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RESEARCH INTERESTS
Mammalian phototransduction
Animal models of retina degeneration
PUBLICATIONS
Vision begins in the outer segments of rod (which perceive dim light, only in black and white) and cone (bright light and color) photoreceptor cells of the retina. In these cells, visual pigment molecules absorb photons, become activated and initiate the phototransduction, or visual, cascade. One aspect of this research program strives to identify the genes implicated in the cause of retinal degenerations in human and animal models. Of the estimated three to four dozen genes thought to be involved in phototransduction and its regulation in mammalian rod photoreceptors, about half have been cloned. To characterize gene products and to follow the consequence of a specific mutation, we wxpress genes of cDNAs either in vitro by using unicellular systems (such as insect cells) infected with baculovirus constructs, or in vivo by using transgenic/knockout α subunit, the catalytic PDE subunits, the CNG channel shown to carry point mutations and/or microdeletions that cause retinal degeneration (autosomal dominant or recessive dystrophies). Several naturally occuring animal models for retinal degeneration are of particular interest to us in determining the mechanism of cell death.
Selected Publications
Sokal I, Li N, Surgucheva I, Warren MJ, Payne AM, Bhattacharya SS, Baehr W, Palczewski K (1998). GCAP1(Y99C) Mutant is constitutively active in autosomal dominant cone dystrophy. Molec Cell 2: 129-133.
Semple-Rowland SL, Lee N, Van Hooser JP, Palczewski K, Baehr W (1998). A re-arrangement in the photoreceptor guanylate cyclase (retGC) gene causes retinal degeneration in the rd chicken retina. Proc Natl Acad Sci 95: 1271-1276.
Wolbring G, Palczewski K, Baehr W, Schnetkamp PPM (1999). Light inhibition of bovine retinal rod guanylyl cyclase mediated by bg-transduciton. Biochem 38: 2611-2616.
Zhang K, Howes KA, He W, Pettenati MJ, PalczewskiK, Wensel TG, Baehr W (1999). Structure, alternative splicing, and expression of the human RGS9 gene. Gene 240: 23-34.
Palczewski K, Polans AS, Baehr W, Ames JB (2000). Ca2+-bindiing proteins int heretina: structure, function, and the etiology of human disease. BioEssays 22: 337-3350.
FrederickJ, Krasnoperova N, Hoffmann K, Church-Kopish J, Rüther K, Howes KA, Lem J, Baehr W (2001). Mutant rhodopsin transgene expression on a null background. Invest Ophthalmol Vis Sci. 42: 826-833.
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