Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.
Open accessAbstract
Myosin VIIa is a newly identified member of the myosin superfamily of actin-based motors. Recently, the myosin VIIa gene was identified as the gene defective in shaker-1, a recessive deafness in mice [Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K.A., Antonio, M., Beisel, K.W., Steel, K.P. & Brown, S.D.M. (1995) Nature (London) 374, 62-64], and in human Usher syndrome type 1B, an inherited disease characterized by congenital deafness, vestibular dysfunction, and retinitis pigmentosa [Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M.D., Kelley, P.M., Kimberling, W.J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K.P., Brown, S.D.M. & Petit, C. (1995) Nature (London) 374, 60-61]. To understand the normal function of myosin VIIa and how it could cause these disease phenotypes when defective, we generated antibodies specific to the tail portion of this unconventional myosin. We found that myosin VIIa was expressed in cochlea, retina, testis, lung, and kidney. In cochlea, myosin VIIa expression was restricted to the inner and outer hair cells, where it was found in the apical stereocilia as well as the cytoplasm. In the eye, myosin VIIa was expressed by the retinal pigmented epithelial cells, where it was enriched within the apical actin-rich domain of this cell type. The cell-specific localization of myosin VIIa suggests that the blindness and deafness associated with Usher syndrome is due to lack of proper myosin VIIa function within the cochlear hair cells and the retinal pigmented epithelial cells.
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MYO7A produces a myosin isoform predominantly expressed in cochlear hair cells, photoreceptors and retinal pigmented epithelium.
“produces a myosin isoform predominantly expressed in cochlear hair cells, photoreceptors and retinal pigmented epithelium [96]”
From Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders (2022) · cites this paper as [96]
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“cochlear hair cells, photoreceptors and retinal pigmented epithelium [96].”
BackgroundMcNeil, E. L., Tacelosky, D., Basciano, P., Biallas, B., Williams, R., Damiani, P., Deacon, S., Fox, C., Stewart, B., Petruzzi, N., et al. (2004) · Cell Motility · doi:10.1002/cm.10179 · Cited by 20 · see citing works
- Authors
- Hasson, T., Heintzelman, M. B., Santos-Sacchi, J., Corey, D. P., & Mooseker, M. S.
- Affiliations
- Yale University (US)
- Department of Biology, Yale University, New Haven, CT 06520, USA.
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 1995-10-10
- Volume
- 92
- Issue
- 21
- Pages
- 9815-9819
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC40893
- OpenAlex
- W1984425391
- Cited by
- 427
- References
- 0
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 11 · 2023: 9 · 2022: 8 · 2021: 11 · 2020: 17 · 2019: 8 · 2018: 7 · 2017: 14 · 2016: 10 · 2015: 14 · 2014: 18 · 2013: 11 · 2012: 15
- FWCI
- 12.75
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5p01dk038979-05)
- National Institute on Deafness and Other Communication Disorders (R01DC000273)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-25387, DK 38979, DK-34989, P30DK034989)
- Topics
- Life Sciences › Neuroscience › Sensory Systems › Hearing, Cochlea, Tinnitus, Genetics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- MYO7A, Usher syndrome type 1B, retinitis pigmentosa, congenital hearing loss, cochlear hair cells, retinal pigment epithelium, stereocilia, gene expression, testis, lung, kidney, vestibular dysfunction, protein localization
- MeSH terms
- Abnormalities, Multiple, Myosin VIIa, Amino Acid Sequence, Animals, Antibody Specificity, Blindness, Cochlea, Deafness, Dyneins, Fluorescent Antibody Technique, Guinea Pigs, Hearing Loss, Sensorineural, Humans, Molecular Sequence Data, Myosins, Retina, Retinitis Pigmentosa, Swine, Syndrome, Tissue Distribution, Immunoblotting, Sequence Homology, Amino Acid, Rats
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