Abstract
Defects in myosin Vlla are responsible for Usher Syndrome 1B (Weil et al., 1995). Human Usher syndrome (USH), named after the British ophthalmologist Charles Usher (Usher, 1914), is the most common hereditary form of combined blind-and deafness (~ 50% of cases in the developed countries). USH designates a group of clinically and genetically heterogeneous disorders with hearing loss and retinitis pigmentosa (RP). Three different USH types (USH1, 2 and 3; see Table 1) can be distinguished according to the degree of clinical symptomes. USH1 is the most severe subtype, characterized by severe to profound congenital sensorineuronal deafness, constant vestibular dysfunction (balance deficiency) and prepubertal onset of retinitis pigmentosa. USH1 is genetically heterogeneous. Out of at least seven distinct genetic loci(USH1A-G)four corresponding genes have been identified, namelyUSH1 B,C,D, andF(Mustapha et al., 2002; Petit, 2001; Table 1).USH1Bencodes for the molecular motor protein myosin Vlla (Weil et al., 1995),USHICencodes harmonin (Bitner-Glindzicz et al., 2000; Verpy et al., 2000), a scaffold protein containing PDZ-domains, motifs which are known to organize supramolecular protein complexes (Sheng and Sala, 2001). Mutations in the cadherinrelated proteins, cadherin 23 (Cdh23) and protocadherin 15 (PCdh15) underline USH1D and USH1F, respectively (Bolz et al., 2001, 2002; Bork et al., 2001; Ahmed et al., 2001; Alagramam et al., 2001a b).
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Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenskiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C., Milian, J. M., Lehesjoki, A. E., Flannery, J. G., Avraham, K. B., Pietrokovski, S., Sankila, E. M., Beckmann, J. S., Lancet, D., 2002, USH3A transcripts encode clarin-1, a fourtransmembrane-domain protein with a possible role in sensory synapsesEur. J. Hum. Genet. 10:339–350.
Ahmed, Z., Khan, S. N., Der Kaloustian, V. M., Li, X. C., Lalwani, A., Bitner-Glindzicz, M., Nance, W. E., Liu, X.-Z., Wistow, G., Smith, R. J. H., Griffith, A. J., Wilcox, E. R., Friedman, T. B., Morell, R. J., 2001, Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like geneCDH23 Am. J. Hum. Genet. 68:26–37.
Alagramam, K. N., Murcia, C. L., Kwon, H. Y., Pawlowski, K. S., Wright, C. G., Woychik, R. P., 2001a, The mouse Ames waltzer hearing-loss mutant is caused by mutation ofPcdhl5a novel protocadherin gene,Nat. Genet. 27:99–102.
Alagramam, K. N., Yuan, H. J., Kuehn, M. H., Murcia, C. L., Wayne, S., Srisailpathy, C. R. S., Lowry, R. B., Knaus, R., Van Laer, L., Bernier, F. P., Schwartz, S., Lee, C., Morton, C. C., Mullins, R. F., Ramesh, A., Van Camp, G., Hagemen, G. S., Woychik, R. P., Smith, R. J. H., 2001b Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1FHum. Mol. Genet. 10:1709–1718.
Bitner-Glindzicz, M., Lindley, K. J., Rutland, P., Blaydon, D., Smith, V. V., Milla, P. J., Hussain, K., FurthLavi, J., Cosgrove, K. E., Shepherd, R. M., Barnes, P. D., O’Brien, R. A., Farndon, P. A., Sowden, J., Liu, X.-Z., Scanlan, M. J., Malcolm, S., Dunne, M. J., Aynsley-Green, A., Glaser, B., 2000, A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C geneNat. Genet.26:56–60.
Boëda, B., El-Amraoui, A., Bahloul, A., Goodyear, R., Daviet, L., Blanchard, S., Perfettini, I., Fath, K. R.,Shone, S., Reiners, J., Houdusse, A., Legrain, P., Wolfrum, U., Richardson, G., Petit, C., 2002, Myosin VIIa, harmonin and cadherin 23, three Usher 1 gene products that cooperate to shape the sensory hair cell bundleEMBOJ.21:6689–6699.
Bolz, H., von Brederlow, B., Ramirez, A., Bryda, E. C., Kutsche, K., Nothwang, H. G., Seeliger, M., Salcedo Cabrera, M. D., Caballero Vila, M., Pelaez Molina, O., Gal, A., Kubisch, C, 2001, Mutation ofCDH23encoding a new member of the cadherin gene family, causes Usher syndrome type 1D,Nat. Genet. 27:108–112.
Bolz, H., Reiners, J., Wolfrum, U., Gal, A., 2002 The role of cadherins in Cat+-mediated cell adhesion and inherited photoreceptor degeneration, in:Photoreceptors and Calcium W. Baehr, K. Palczewski, eds, Ronald G. Landes (Landes Bioscience), Georgetown, in press
Bork, J. M., Peters, L. M., Riazuddin, S., Bernstein, S. L., AhmedZ.M.Ness, S. L., Polomeno, R., Ramesh, A., Schloss, M., Srikumari, C. R. S., Wayne, S., Bellman, S., Desmukh, D., Ahmed, Z., Khan, S. N., Der Kaloustian, V. M., Li, X. C., Lalwani, A., Bitner-Glindzicz, M., Nance, W. E., Liu, X.-Z., Wistow, G., Smith, R. J. H., Griffith, A. J., Wilcox, E. R., Friedman, T. B., Morell, R. J., 2001, Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB 12 are caused by allelic mutations of the novel cadherin-like gene CDH23 Am. J. Hum. Genet.68:26–37.
Chen, Z. Y., Hasson, T., Kelley, P. M., Schwender, B. J., Schwartz, M. F., Ramakrishnan, M., Kimberling, W. J., Mooseker, M. S., Corey, D. P., 1996, Molecular cloning and domain structure of human myosin- VIIa. The gene product defective in usher syndrome 1BGenomics36:440–448.
Chishti, A. H., Kim, A. C., Marfatia, S. M., Lutchman, M., Hanspal, M., Jindal, H., Liu, S. C., Low, P. S.,Rouleau, G. A., Mohandas, N., Chasis, J. A., Conboy, J. G., Gascard, P., Takakuwa, Y., Huang, S. C., Benz, E. J., Bretscher, A., Fehon, R. G., Gusella, A. F., Ramesh, V., Solomon, F., Marchesi, V. T., Tsukita, S., Arpin, M., Louvard, D., Tonks, N. K., Anderson, J. M., Fanning, A. S., Bryant, P. J., Woods, D. F., Hoover, K. B., 1998, The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membraneTrends Biochem. Sci.23:281–282.
EI-Amraoui, A., Sahly, I., Picaud, S., Sahel, J., Abitbol, M., Petit, C., 1996, Human Usher 1B mouse shaker-1: The retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cellsHum. Mol. Genet.5:1171–1178.
El-Amraoui, A., Schonn, J.-S., Küssel-Andermann, P., Blanchard, S., Desnos, C., Henry J.-P., Wolfrum, U., Darchen, F., Petit, C., 2002, MyRIP, a novel Rab effector, enables myosin VIIa recruitement to melanosomes and synaptic vesiclesEMBO Rep.3:463–470.
Fanning, A. S., Anderson, J. M., 1996, Protein-protein interactions: PDZ domain networksCurr. Biol. 6:1385-1388.
Garner, C. C., Nash, J., Huganir, R. L., 2000, PDZ domains in synapse assembly and signallingTrends Cell Biol. 10:274–280.
Harada, A., Teng, J., Takei, Y., Oguchi, H., Hirokawa, N., 2002, MAP2 is required for dendrite elongation, PKA anchoring in dendrites, and proper PKA signal transductionJ. Cell Biol. 158:541–549.
Hasson, T., Heintzelman, M. B., Santos-Sacchi, J., Corey, D. P., Mooseker, M. S., 1995, Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1BProc. Natl. Acad. Sci. USA92:9815–9819.
Hasson, T., Mooseker, M. S., 1997, The growing family of myosin motors and their role in neurons and sensory cellsCur.r Opin. Neurobiol.7:615–623.
Küssel-Andermann, P., El-Amraoui, A., Safieddine, S., Nouaille, S., Perfettini, I., Lecuit, M., Cossart, P., Wolfrum, U., Petit, C., 2000a Vezatin, a novel transmembrane protein, bridges myosin Vlra to the cadherin/catenin complexEMBO J.19:6020–6029.
Küssel-Andermann, P., El-Amraoui, A., Safieddine, S., Hardelin, J. P., Nouaille, S., Camonis, J., Petit, C., 2000b, Unconventional myosin VIIA is a novel A-kinase anchoring proteinJ. BioL Chem.275:2965429659.
Libby, R. T., Steel, K. P., 2001, Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1BInvest. OphthalmoL Visual Sci.42:770–778.
Liu, X. R., Vansant, G., Udovichenko, I. P., Wolfrum, U., Williams, D. S., 1997, Myosin VIIa, the product of the Usher IB syndrome gene, is concentrated in the connecting cilia of photoreceptor cells, Cell Motil. Cytoskeleton 37:240–252.
Liu, X. R., Ondek, B., Williams, D. S., 1998, Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 miceNat. Genet. 19:117–118.
Liu, X., Udovichenko, I. P., Brown, S. D., Steel, K. P., Williams, D. S., 1999, Myosin VIIa participates in opsin transport through the photoreceptor ciliumJ. Neurosci.19:6267–6274.
Mermall, V., Post, P. L., Mooseker, M. S., 1998, Unconventional myosins in cell movement, membrane traffic, and signal transductionScience279:527–533.
Mustapha, M., Chouery, E., Torchard-Pagnez, D., Nouaille, S., Khrais, A., Sayegh, F. N., Mégarbané, A., Loiselet, J., Lathrop, M., Petit, C., Weil, D. 2002, A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25Hum. Genet.110:348–350.
Oliver, T. N., Berg, J. S., Cheney, R. E., 1999, Tails of unconventional myosinsCell Mol. Life Sci.56:243–257.
Richardson, G. P., Forge, A., Kros, C. J., Fleming, J., Brown, S. D. M., Steel, K. P., 1997, Myosin VIIA is required for aminoglycoside accumulation in cochlear hair cells.J. Neurosci.17:9506–9519.
Richardson, G. P., Forge, A., Kros, C. J., Marcotti, W., Becker, D., Williams, D. S., Thorpe, J. R., Fleming, J., Brown, S. D., Steel, K. P., 1999, A missense mutation in myosin VIIA prevents aminoglycoside accumulation in early postnatal cochlear hair cellsAnn. N. Y. Acad. Sci. 884:110–124.
Petit, C., 2001, Usher syndrome: from genetics to pathogenesis, Annu. Rev. Genomics Hum. Genet. 2:271–297.
Reiners, J., Reidel, B., El-Amraoui, A., Boëda, B., Huber, I., Petit, C., Wolfrum, U., 2003, Spatialcolocalization of the PDZ-protein harmonin with the other Usher I syndrome gene products Cadherin 23,and myosin VIIa at ribbon synapsessubmitted.
Self, T., Mahony, M., Fleming, J., Walsh, J., Brown, S. D. M., Steel, K. P. 1998, Shaker-1 mutations reveal roles for myosin VIIa in both development and function of cochlear hair cellsDevelopment125:557–566.
Sellers, J. R., 2000, Myosins: a diverse superfamilyBiochim. Biophys. Acta 1496:3–22.
Sheng, M., Sala, C., 2001, PDZ domains and the organization of supramolecular complexesAnn. Rev. Neurosci. 24:1–29.
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 interactionsProc. Natl. Acad. Sci. USA 99:14946–14951.
Todorov, P. T., Hardisty, R. E., Brown, S. D. M., 2001, Myosin VIIA is specifically associated with calmodulin and microtubule-associated protein-2B (MAP-2B)Biochem. J.354:267–274.
Tuxworth, R. I., Weber, I., Wessels, D., Addicks, G. C., Soll, D. R., Gerisch, G., Titus, M. A. 2001, A role for myosin VII in dynamic cell adhesionCurr. Biol.11:318–329.
Udovichenko, I. P., Gibbs, D., Williams, D. S., 2002, Actin-based motor properties of native myosin VIIaJ. Cell Sci.115:445–450.
Usher, C. H., 1914, On the inheritance of Retinitis pigmentosa, with notes of casesR. Lond. Ophthalmol. Hosp. Rep. 19:130–236.
Velichkova, M., Guttman, J., Warren, C., Eng, L., Kline, K., Vogl, A. W., Hasson, T., 2002, A human homologue ofDrosophilakelch associates with myosin-VIIa in specialized adhesion junctions,Cell Motil. Cytoskeleton 51:147–164.
Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X.-Z., Gal, A., Salem, N., Mansour, A., Blanchard, S., Kobayashi, I., Keats, B. J. B., Slim, R., Petit, C. 2000, A defect in harmonin, a PDZ domain-containingprotein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C, Nature Genet. 26:51–55.
Wang, J., Powers, N. L., Hofstetter, P., Trautwein, P., Ding, D., Salvi, R. 1997, Effects of selective inner hair cell loss on auditory nerve fiber threshold, tuning and spontaneous and driven discharge rateHearing Res.107:67–82.
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, Defective myosin VIIA gene responsible for Usher syndrome type 1B, Nature 374:60–61.
Weil, D., Küssel, P., Blanchard, S., Levy, G., Leviacobas, F., Drira, M., Ayadi, H., Petit, C., 1997, The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA geneNat. Genet. 16:191–193.
Wolfrum, U., Liu, X. R., Schmitt, A., Udovichenko, I. P., Williams, D. S., 1998, Myosin VIIa as a common component of cilia and microvilliCell Mottl. Cytoskeleton 40:261–271.
Wolfrum, U., Schmitt, A., 1999, Evidence for myosin VIIa driven transport of rhodopsin in the plasma membrane of the photoreceptor-connecting cilium, in:Retinal degeneration diseases and experimental therapyJ. G. Hollyfield, R. E. Andersson, M. LaVail, eds, Kluwer Academic/Plenum Publishers, New York, pp. 3–14.
Wolfrum, U., Schmitt, A. 2000, Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cellsCell Mold. Cytoskeleton. 46:95–107.
Wolfrum, U., El-Amraoui, A., Fath, K. R., Petit, C., Schmitt, A., 2001, Identification and characterization of the membrane-associated actin cytoskeleton in the photoreceptor ciliumInvest. Ophthalmol. Vis. Sci.42:296
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Wolfrum, U. (2003). The Cellular Function of the Usher Gene Product Myosin VIIa is Specified by Its Ligands. 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_17
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