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The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions
Open accessAbstract
Usher syndrome type 1 (USH1) patients suffer from sensorineuronal deafness, vestibular dysfunction, and visual impairment. Several genetic loci have been linked to USH1, and four of the relevant genes have been identified. They encode the unconventional myosin VIIa, the PDZ-domain protein harmonin, and the putative adhesion receptors cadherin 23 (CDH23) and protocadherin 15 (PCDH15). We show here that CDH23 and harmonin form a protein complex. Two PDZ domains in harmonin interact with two complementary binding surfaces in the CDH23 cytoplasmic domain. One of the binding surfaces is disrupted by sequences encoded by an alternatively spliced CDH23 exon that is expressed in the ear, but not the retina. In the ear, CDH23 and harmonin are expressed in the stereocilia of hair cells, and in the retina within the photoreceptor cell layer. Because CDH23-deficient mice have splayed stereocilia, our data suggest that CDH23 and harmonin are part of a transmembrane complex that connects stereocilia into a bundle. Defects in the formation of this complex are predicted to disrupt stereocilia bundles and cause deafness in USH1 patients.
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Cites
Recognition of Unique Carboxyl-Terminal Motifs by Distinct PDZ Domains
Songyang, Z., Fanning, A. S., Fu, C., Xu, J., Marfatia, S. M., Chishti, A. H., Crompton, A., Chan, A. C., Anderson, J. M., & Cantley, L. C. (1997) · Science · doi:10.1126/science.275.5296.73 · Cited by 1,385
Cited by
Hartong, D. T., Berson, E. L., & Dryja, T. P. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69740-7 · Cited by 2,924
Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells
the Tübingen 2000 Screen Consortium, Söllner, C., Rauch, G.-J., Siemens, J., Geisler, R., Schuster, S. C., Müller, U., & Nicolson, T. (2004) · Nature · doi:10.1038/nature02484 · Cited by 338
Self-citationReiners, J., Nagel-Wolfrum, K., Jürgens, K., Märker, T., & Wolfrum, U. (2006) · Experimental Eye Research · doi:10.1016/j.exer.2005.11.010 · Cited by 305
Weil, D. (2003) · Human Molecular Genetics · doi:10.1093/hmg/12.5.463 · Cited by 294
Genome-wide association scan for five major dimensions of personality
Terracciano, A., Sanna, S., Uda, M., Deiana, B., Usala, G., Busonero, F., Maschio, A., Scally, M., Patriciu, N., Chen, W.-M., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2008.113 · Cited by 286
Metadata
- Authors
- Siemens, J., Kazmierczak, P., Reynolds, A., Sticker, M., Littlewood-Evans, A., & Müller, U.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2002-10-29
- Volume
- 99
- Issue
- 23
- Pages
- 14946-14951
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2101146365
- Cited by
- 243
- References
- 1
- FWCI
- 7.77
- Type
- journal article
- Language
- en
- Open access
- green
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- Siemens, J., Kazmierczak, P., Reynolds, A., Sticker, M., Littlewood-Evans, A., & Müller, U. (2002). The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.232579599
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