Abstract
Patients with Usher syndrome (USH) suffer from inherited deafness coupled with blindness (Usher, 1914). Three types of USH have been described, with USH1 being the most severe. Children with USH1 are born profoundly deaf, and then begin to lose their sight as a result of retinitis pigmentosa usually in their second decade of life. Mutations in at least seven different genes can cause USHI. Four of these have now been identified. The most common form of USH1 is USH1B, which accounts for at least 50% of USH1 cases (Astuto et al., 2000). USH1B is caused by mutations in human myosin VIIa(MYO7A)(Weil et al., 1995
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Alagramam, K. N., Murcia, C. L., Kwon, H. Y., Pawlowski, K. S., Wright, C. G., and Woychik, R. P., 2001, The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.Nat. Genet.27:99–102.
Astuto, L. M., Weston, M. D., Carney, C. A., Hoover, D. M., Cremers, C., Wagenaar, M., Moller, C., Smith, R. J. H., Pieke-Dahl, S., Greenberg, J., Ramesar, R., Jacobson, S. G., Ayuso, C., Heckenlively, J. R., Tamayo, M., Gorin, M. B., Reardon, W., and Kimerling, W. J., 2000, Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I.Amer. J Hum. Genet.67:1569–1574.
Ball, S. L., Bardenstein, D., and Alagramam, K., 2002, Characterization of retinal function in the Ames Waltzer mouse.Invest Ophthalmol Vis Sci ARVO abstracts43:1778.
Bolz, H., von Brederlow, B., Ramirez, A., Bryda, E. C., Kutsche, K., Nothwang, H. G., Seeliger, M., del C-Salcedo Cabrera, M., Vila, M. C., Molina, O. P., Gal, A., and Kubisch, C., 2001, Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.Nat. Genet.27:108–112.
Bork, J. M., Peters, L. M., Riazuddin, S., Bernstein, S. L., Ahmed, Z. M., Ness, S. L., Polomeno, R., Ramesh, A., Schloss, M., Srisailpathy, C. R., Wayne, S., Bellman, S., Desmukh, D., Ahmed, Z., Khan, S. N., Kaloustian, V. M., Li, X. C., Lalwani, A., Bitner-Glindzicz, M., Nance, W. E., Liu, X. Z., Wistow, G., Smith, R. J., Griffith, A. J., Wilcox, E. R., Friedman, T. B., and Morell, R. J., 2001, Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.Am. J. Hum. Genet.68:26–37.
Bowes, C., Li, T., Danciger, M., Baxter, L. C., Applebury, M. L., and Farber, D. B., 1990, Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase.Nature347:677680.
Cuevas, J. M., Espinos, C., Millan, J. M., Sanchez, F., Trujillo, M. J., Garcia-Sandoval, B., Ayuso, C., Najera, C., and Beneyto, M., 1998, Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.Mol. Cell. Probes12:417–420.
Di Palma, F., Holnie, R. H., Bryda, E. C., Belyantseva, I. A., Pellegrino, R., Kachar, B., Steel, K. P., and Noben-Trauth, K., 2001, Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.Nat. Genet.27:103–107.
Gibbs, D., Kitamoto, J., and Williams, D. S., submitted, Myosin VIIa in RPE phagocytoses and a potential cause of blindness in Usher syndrome 1B.
Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P., and Brown, S. D. M., 1995, A type VII myosin encoded by mouse deafness gene shaker-1.Nature374:62–64.
Hasson, T., Heintzelman, M. B., Santos-Sacchi, J., Corey, D. P., and Mooseker, M. S., 1995, Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.Proc. Natl. Acad. Sci. USA92:9815–9819.
Hasson, T., Walsh, J., Cable, J., Mooseker, M. S., Brown, S. D. M., and Steel, K. P., 1997, Effects of shaker-mutations on myosin-VIIa protein and mRNA expression.Cell Motel. Cytoskel.37:127–138.
Holme, R. H., and Steel, K. P., 2002, Stereocilia defects in waltzer (Cdh23), shaken (Myo7a) and double
waltzer/shaken mutant mice.Hear. Res.169:13–23.
Libby, R. T., Kitamoto, J., Holme, R. H., Williams, D. S., and Steel, K. P., submittedCdh23mutations in the mouse are associated with retinal dysfunction but not retinal degeneration.
Libby, R. T., and Steel, K. P., 2001, Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 113.Invest. Ophthalmol. Vis. Sci.42:770–778.
Liu, X., Ondek, B., and Williams, D. S., 1998, Mutant myosin VIIa causes defective melanosome distribution in the RPE ofshaker-1 mice.Nat. Genet.19:117–118.
Liu, X., Udovichenko, I. P., Brown, S. D. M., Steel, K. P., and Williams, D. S., 1999, Myosin VIIa participates in opsin transport through the photoreceptor cilium.J. Neurosci.19:6267–6274.
Liu, X., Vansant, G., Udovichenko, I. P., Wolfrum, U., and Williams, D. S., 1997, Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells.Cell Motel. Cytoskel.37:240–252.
Lord, E. M., and Gates, W. H., 1929, Shaker, a new mutation of the house mouse(Mus musculus). Am. Nat.63:435–442.
Mburu, P., Liu, X. Z., Walsh, J., Saw, D., Jamie, M., Cope, T. V., Gibson, F., Kendrick-Jones, J., Steel, K. P., and Brown, S. D. M., 1997, Mutation analysis of the mouse myosin VIIA deafness gene.Genes Fund.1:191–203.
McLaughlin, M. E., Ehrhart, T. L., Berson, E. L., and Dryja, T. P., 1995, Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.Proc. Natl. Acad. Sci. USA92:3249–3253.
Pittler, S. J., and Baehr, W., 1991, Identification of a nonsense mutation in the rod photoreceptor cGMP
phosphodiesterase beta-subunit gene of the rd mouse.Proc. Natl Acad. Sci. USA88:8322–6. Portera-Cailliau, C., Sung, C. H., Nathans, J., and Adler, R., 1994, Apoptotic photoreceptor cell death in mousemodels of retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 91:974–978.
Sanyal, S., and Hawkins, R. K., 1981, Genetic interaction in the retinal degeneration of mice.Exp. Eye Res.33:213–22.
Usher, C., 1914, On the inheritance of retinitis pigmentosa with notes of cases.R. Lond. Ophthalmol. Hosp. Rep.19:130–236.
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., and Petit, C., 1995, Defective myosin VIIA gene responsible for Usher syndrome type 1B.Nature374:60–61.
Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z. Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Moller, C., Jacobson, S. G., Gorin, M. B., and Kimberling, W. J., 1996, Myosin VIIa mutation screening in 189 Usher syndrome type 1 patients.Amer. J. Hum. Genet.59:1074–1083.
Wong, P. C., Cai, H., Borchelt, D. R., and Price, D. L., 2002, Genetically engineered mouse models of neurodegenerative diseases.Nat. Neurosci.5:633–639.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2003 Springer Science+Business Media New York
About this paper
Cite this paper
Lillo, C., Kitamoto, J., Liu, X., Quint, E., Steel, K.P., Williams, D.S. (2003). Mouse Models for Usher Syndrome 1b. In: LaVail, M.M., Hollyfield, J.G., Anderson, R.E. (eds) Retinal Degenerations. Advances in Experimental Medicine and Biology, vol 533. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0067-4_18
Download citation
DOI: https://doi.org/10.1007/978-1-4615-0067-4_18
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-4909-9
Online ISBN: 978-1-4615-0067-4
eBook Packages: Springer Book Archive