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Nonsense Mutations in the ß Subunit Gene of the Rod cGMP Phosphodiesterase That are Associated with Inherited Retinal Degenerative Disease

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Retinal Degeneration

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Abstract

The phototransduction cascade is the series of biochemical reactions through which a photon of light results in decreased neurotransmitter release in the photoreceptor. Analogous but biochemically distinct pathways are responsible for both rod and cone phototransduction. 1 A photon of light results in the photoisomerization of rhodopsin from 11-cis retinal to all trans retinal in the rod. This allows transducin to exchange GTP for GDP. This activated transducin complex can then release the inhibitory γ subunit from the cGMP phosphodiesterase (PDE) resulting in a decreased concentration of free cGMP. A cGMP-gated cation channel is then closed decreasing sodium conductance and hyperpolarizing the photoreceptor.

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Author information

Authors and Affiliations

  1. Departments of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA

    Richard L. Hurwitz & Michael L. Suber

  2. Departments of Cell Biology, Baylor College of Medicine, Houston, TX, 77030, USA

    Richard L. Hurwitz

  3. Departments of Ophthalmology, Baylor College of Medicine, Houston, TX, 77030, USA

    Richard L. Hurwitz & Wolfgang Baehr

  4. Departments of Biochemistry, Baylor College of Medicine, Houston, TX, 77030, USA

    Ning Qin & Wolfgang Baehr

  5. Department of Biochemistry Molecular Biology and Ophthalmology, University of South Alabama College of Medicine, Mobile, AL, 36688, USA

    Steven J. Pittler

  6. Department of Anatomy and Cell Biology, University of California School of Medicine, Los Angeles, CA, 90024, USA

    Rehwa H. Lee & Richard N. Lolley

  7. Developmental Neurology Laboratories, Veterans Administration Medical Center, Sepulveda, CA, 91343, USA

    Rehwa H. Lee & Richard N. Lolley

  8. Department of Psychiatry, University of Texas Southwest Medical Center, and Veterans Administration Medical Center, Dallas, TX, 75235, USA

    Cheryl M. Craft

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Editors and Affiliations

  1. Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, USA

    Joe G. Hollyfield  & Robert E. Anderson  & 

  2. Beckman Vision Center, University of California, San Francisco, San Francisco, California, USA

    Matthew M. LaVail

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© 1993 Springer Science+Business Media New York

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Hurwitz, R.L. et al. (1993). Nonsense Mutations in the ß Subunit Gene of the Rod cGMP Phosphodiesterase That are Associated with Inherited Retinal Degenerative Disease. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degeneration. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2974-3_25

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  • DOI: https://doi.org/10.1007/978-1-4615-2974-3_25

  • Publisher Name: Springer, Boston, MA

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