NDLI: Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

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Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

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Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Weil, D. Sahly, I. Philippe, H. Abitbol, M. El-amraoui, A. Crozet, F. Petit, C. Levi-acobas, F. Blanchard, S. Levy, G.
Description	Author Affiliation: Weil D ( Unite de Genetique Moleculaire Humaine, Centre National de la Recherche Scientifique Unite de Recherche Associee 1968, Institut Pasteur, Paris, France.);
Abstract	The gene encoding human myosin VIIA is responsible for Usher syndrome type III (USH1B), a disease which associates profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. The reconstituted cDNA sequence presented here predicts a 2215 amino acid protein with a typical unconventional myosin structure. This protein is expected to dimerize into a two-headed molecule. The C terminus of its tail shares homology with the membrane-binding domain of the band 4.1 protein superfamily. The gene consists of 48 coding exons. It encodes several alternatively spliced forms. In situ hybridization analysis in human embryos demonstrates that the myosin VIIA gene is expressed in the pigment epithelium and the photoreceptor cells of the retina, thus indicating that both cell types may be involved in the USH1B retinal degenerative process. In addition, the gene is expressed in the human embryonic cochlear and vestibular neuroepithelia. We suggest that deafness and vestibular dysfunction in USH1B patients result from a defect in the morphogenesis of the inner ear sensory cell stereocilia.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	8
Volume Number	93
Language	English
Publisher	National Academy of Sciences
Publisher Date	1996-06-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Myosins Genetics Alternative Splicing Amino Acid Sequence Animals Binding Sites DNA Probes DNA, Complementary Deafness Congenital Embryology Dyneins Epithelium Metabolism Fetus Gene Expression In Situ Hybridization Mice Molecular Sequence Data Chemistry Nervous System Retinitis Pigmentosa Sequence Homology, Amino Acid Syndrome Vestibular Diseases Research Support, Non-U.S. Gov't Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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