Phototransduction in a Transgenic Mouse Model of Nougaret Night Blindness

The Nougaret form of dominant stationary night blindness is linked to a G38D mutation in the rod transducin-alpha subunit (Talpha). In this study, we have examined the mechanism of Nougaret night blindness using transgenic mice expressing TalphaG38D. The biochemical, electrophysiological, and vision...

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Bibliographic Details
Published in:The Journal of neuroscience 2006-06, Vol.26 (25), p.6863-6872
Main Authors: Moussaif, Mustapha, Rubin, William W, Kerov, Vasily, Reh, Rebecca, Chen, Desheng, Lem, Janis, Chen, Ching-Kang, Hurley, James B, Burns, Marie E, Artemyev, Nikolai O
Format: Article
Language:English
Subjects:
Animals
Blotting, Western - methods
Dark Adaptation - physiology
Disease Models, Animal
Electroretinography - methods
Eye Proteins - metabolism
Gene Expression - physiology
Guanosine 5'-O-(3-Thiotriphosphate) - metabolism
Immunohistochemistry - methods
Membrane Potentials - drug effects
Membrane Potentials - physiology
Membrane Potentials - radiation effects
Mice
Mice, Inbred C57BL
Mice, Transgenic
Night Blindness - genetics
Night Blindness - pathology
Night Blindness - physiopathology
Photic Stimulation - methods
Retina - metabolism
Retina - pathology
Retina - physiopathology
Retinal Rod Photoreceptor Cells - physiopathology
Sensory Thresholds - physiology
Transducin - genetics
Vision, Ocular - genetics
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Summary:The Nougaret form of dominant stationary night blindness is linked to a G38D mutation in the rod transducin-alpha subunit (Talpha). In this study, we have examined the mechanism of Nougaret night blindness using transgenic mice expressing TalphaG38D. The biochemical, electrophysiological, and vision-dependent behavioral analyses of the mouse model revealed a unique phenotype of reduced rod sensitivity, impaired activation, and slowed recovery of the phototransduction cascade. Two key deficiencies in TalphaG38D function, its poor ability to activate PDE6 (cGMP phosphodiesterase) and decreased GTPase activity, are found to be the major mechanisms altering visual signaling in transgenic mice. Despite these defects, rod-mediated sensitivity in heterozygous mice is not decreased to the extent seen in heterozygous Nougaret patients.
ISSN:0270-6474
1529-2401
DOI:10.1523/JNEUROSCI.1322-06.2006