The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
Abstract
Usher syndrome type I (USH1) is the most frequent cause of hereditary deaf-blindness in humans. Seven genetic loci (USH1A-G) have been implicated in this disease to date, and four of the corresponding genes have been identified: USH1B, C, D and F. We carried out fine mapping of USH1G (chromosome 17q24-25), restricting the location of this gene to an interval of 2.6 Mb and then screened genes present within this interval for mutations. The genes screened included the orthologue of the Sans gene, which is defective in the Jackson shaker deaf mutant and maps to the syntenic region in mice. In two consanguineous USH1G-affected families, we detected two different frameshift mutations in the SANS gene. Two brothers from a German family affected with USH1G were found to be compound heterozygotes for a frameshift and a missense mutation. These results demonstrate that SANS underlies USH1G. The SANS protein contains three ankyrin domains and a sterile alpha motif, and its C-terminal tripeptide presents a class I PDZ-binding motif. We showed, by means of co-transfection experiments, that SANS associates with harmonin, a PDZ domain-containing protein responsible for USH1C. In Jackson shaker mice the hair bundles, the mechanoreceptive structures of inner ear sensory cells, are disorganized. Based on the known interaction between USH1B (myosin VIIa), USH1C (harmonin) and USH1D (cadherin 23) proteins and the results obtained in this study, we suggest that a functional network formed by the USH1B, C, D and G proteins is responsible for the correct cohesion of the hair bundle.
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Cites
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PDZ Domains and the Organization of Supramolecular Complexes
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Defective myosin VIIA gene responsible for Usher syndrome type IB
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The ankyrin repeat: a diversity of interactions on a common structural framework
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A type VII myosin encoded by the mouse deafness gene shaker-1
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 · doi:10.1038/374062a0 · Cited by 683
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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
Bolz, H., von Brederlow, B., Ramírez, A., Bryda, E. C., Kutsche, K., Nothwang, H. G., Seeliger, M., Cabrera, M. D. C.-S., Vila, M. C., Molina, O. P., et al. (2001) · Nature Genetics · doi:10.1038/83667 · Cited by 497
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Cited by
ELM--the database of eukaryotic linear motifs
Dinkel, H., Michael, S., Weatheritt, R. J., Davey, N. E., Van Roey, K., Altenberg, B., Toedt, G., Uyar, B., Seiler, M., Budd, A., et al. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr1064 · Cited by 438
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Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c
Pan, B., Askew, C., Galvin, A., Heman-Ackah, S., Asai, Y., Indzhykulian, A. A., Jodelka, F. M., Hastings, M. L., Lentz, J. J., Vandenberghe, L. H., et al. (2017) · Nature Biotechnology · doi:10.1038/nbt.3801 · Cited by 294
Photoreceptor Cilia and Retinal Ciliopathies
Bujakowska, K. M., Liu, Q., & Pierce, E. A. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028274 · Cited by 194
Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
Williams, D. S. (2008) · Vision Research · doi:10.1016/j.visres.2007.08.015 · Cited by 188
Metadata
- Authors
- Weil, D.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2003-03-01
- Volume
- 12
- Issue
- 5
- Pages
- 463-471
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2117976440
- Cited by
- 294
- References
- 24
- FWCI
- 8.70
- Type
- journal article
- Language
- en
- Open access
- closed
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- Weil, D. (2003). Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Human Molecular Genetics. https://doi.org/10.1093/hmg/12.5.463
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