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Retinal Degenerative Diseases and Experimental Therapy pp 15–26Cite as

Blindness in Usher Syndrome 1B

Myosin VIIa in the Retina

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Abstract

The turnover of phototransductive membrane is an essential process for the viability of photoreceptor cells. Molecular motors are likely candidates for the trafficking of phototransductive membrane during various stages of its turnover. Our studies of molecular motors in photoreceptor cells and the RPE are aimed at understanding mechanisms involved in phototransductive membrane turnover and the cellular basis of some forms of retinal degeneration. Results described here represent initial studies on the role of myosin VIIa in the retina. Defects in the myosin VIIa, gene have been found to cause forms of Usher syndrome. Myosin VIIa, was localized in the apical processes of the RPE and in the connecting cilium of the photoreceptor cells. In the retinas of shaker-1 mice, which express mutant myosin VIIa, the only identifiable structural defect was the mislocalization of the melanosomes of the RPE. Disk membrane shedding did not appear to be affected. Nevertheless, the localization of myosin VIIa, in the photoreceptor cilium suggests that the protein might be involved in transporting phototransductive membrane to the outer segment.

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Authors and Affiliations

  1. Departments of Pharmacology and Neurosciences, University of California, San Diego School of Medicine, La Jolla, California, 92093-0983

    David S. Williams, Xinran Liu, Gordon Vansant & Brian Ondek

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  1. David S. Williams
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  2. Xinran Liu
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  3. Gordon Vansant
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  4. Brian Ondek
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Editors and Affiliations

  1. Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, Ohio

    Joe G. Hollyfield

  2. Dean A. McGee Eye Institute, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma

    Robert E. Anderson

  3. Beckman Vision Center, University of California, San Francisco, San Francisco, California

    Matthew M. LaVail

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© 1999 Kluwer Academic / Plenum Publishers

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Williams, D.S., Liu, X., Vansant, G., Ondek, B. (1999). Blindness in Usher Syndrome 1B. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degenerative Diseases and Experimental Therapy. Springer, Boston, MA. https://doi.org/10.1007/978-0-585-33172-0_2

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  • DOI: https://doi.org/10.1007/978-0-585-33172-0_2

  • Publisher Name: Springer, Boston, MA

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  • Online ISBN: 978-0-585-33172-0

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