Usher syndrome: Molecular links of pathogenesis, proteins and pathways

Human Molecular Genetics

Volumn 15, Issue SUPPL. 2, 2006, Pages

  Kremer, Hannie ^a   van Wijk, Erwin ^a   Märker, Tina ^c   Wolfrum, Uwe ^c   Roepman, Ronald ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ANKYRIN; CADHERIN 23; CATENIN; CELL ADHESION MOLECULE; HEPARIN 1; INTEGRIN; ISOPROTEIN; MEMBRANE PROTEIN; MEPROBAMATE; MYOSIN; MYOSIN VIIA; PROTEIN USH2A; PROTEIN USH3A; PROTOCADHERIN 15; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG; VERY LARGE G COUPLED PROTEIN RECEPTOR 1B;

CELL INTERACTION; CELL JUNCTION; CELL POLARITY; CELL STRUCTURE; CELL TYPE; CYTOSKELETON; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; HAIR CELL; INNER EAR; MORPHOGENESIS; NONHUMAN; PATHOGENESIS; PHENOTYPE; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; REVIEW; SIGNAL TRANSDUCTION; STEREOCILIUM; SYNAPTIC TRANSMISSION; USHER SYNDROME;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; EAR, INNER; HAIR CELLS; HAIR CELLS, AUDITORY; HUMANS; MEMBRANE PROTEINS; MICE; MULTIPROTEIN COMPLEXES; NERVE TISSUE PROTEINS; PHOTORECEPTOR CELLS, VERTEBRATE; PHOTORECEPTORS, VERTEBRATE; PROTEIN ISOFORMS; RETINA; SYNAPSES; USHER SYNDROMES;

ANIMALIA;

EID: 33749019339     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl205     Document Type: Review

References (95)

1. Rosenberg, T., Haim, M., Hauch, A.M. and Parving, A. (1997) The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin. Genet., 51, 314-321.
2. Spandau, U.H. and Rohrschneider, K. (2002) Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch. Clin. Exp. Ophthalmol., 240, 495-498.
3. Marazita, M.L., Ploughman, L.M., Rawlings, B., Remington, E., Arnos, K.S. and Nance, W.E. (1993) Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am. J. Med. Genet., 46, 486-491.
4. Ahmed, Z.M., Riazuddin, S., Riazuddin, S. and Wilcox, E.R. (2003) The molecular genetics of Usher syndrome. Clin. Genet., 63, 431-444.
5. Heckenlively, J.R., Yoser, S.L., Friedman, L.H. and Oversier, J.J. (1988) Clinical findings and common symptoms in retinitis pigmentosa. Am. J. Ophthalmol., 105, 504-511.
6. Heckenlively, J.R. (1988) Retinitis Pigmentosa. Lippincott Company, Philadelphia.
7. Reiners, J., Nagel-Wolfrum, K., Jurgens, K., Marker, T. and Wolfrum, U. (2006) Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp. Eye Res., 83, 97-119.
8. Smith, R.J., Berlin, C.I., Hejtmancik, J.F., Keats, B.J., Kimberling, W.J., Lewis, R.A., Moller, C.G., Pelias, M.Z. and Tranebjaerg, L. (1994) Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am. J. Med. Genet., 50, 32-38.
9. Rivolta, C., Sweklo, E.A., Berson, E.L. and Dryja, T.P. (2000) Missense mutation in the USH2A gene: Association with recessive retinitis pigmentosa without hearing loss. Am. J. Hum. Genet., 66, 1975-1978.
10. Seyedahmadi, B.J., Rivolta, C., Keene, J.A., Berson, E.L. and Dryja, T.P. (2004) Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Exp. Eye Res., 79, 167-173.
11. El-Amraoui, A. and Petit, C. (2005) Usher I syndrome: Unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J. Cell Sci., 118, 4593-4603.
12. Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben Asher, E., Espinos, C. et al. (2002) USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur. J. Hum. Genet., 10, 339-350.
13. Adato, A., Michel, V., Kikkawa, Y., Reiners, J., Alagramam, K.N., Weil, D., Yonekawa, H., Wolfrum, U., El Amraoui, A. and Petit, C. (2005) Interactions in the network of Usher syndrome type 1 proteins. Hum. Mol. Genet., 14, 347-356.
14. Reiners, J., van Wijk, E., Marker, T., Zimmermann, U., Jurgens, K., te Brinke, H., Overlack, N., Roepman, R., Knipper, M., Kremer, H. and Wolfrum, U. (2005) Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum. Mol. Genet., 14, 3933-3943.
15. van Wijk, E., van der Zwaag, B., Peters, T., Zimmermann, U., te Brinke, H., Kersten, F.F.J., Marker, T., Aller, E., Hoefsloot, L.H., Cremers, C.W.R.J. et al. (2006) The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum. Mol. Genet., 15, 751-765.
16. Puntervoll, P., Linding, R., Gemund, C., Chabanis-Davidson, S., Mattingsdal, M., Cameron, S., Martin, D.M., Ausiello, G., Brannetti, B., Costantini, A. et al. (2003) ELM server: A new resource for investigating short functional sites in modular eukaryotic proteins. Nucleic Acids Res., 31, 3625-3630.
17. Adato, A., Lefevre, G., Delprat, B., Michel, V., Michalski, N., Chardenoux, S., Weil, D., El-Amraoui, A. and Petit, C. (2005) Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum. Mol. Genet., 14, 3921-3932.
18. Reiners, J., Marker, T., Jurgens, K., Reidel, B. and Wolfrum, U. (2005) Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Mol. Vis., 11, 347-355.
19. Siemens, J., Kazmierczak, P., Reynolds, A., Sticker, M., Littlewood-Evans, A. and Muller, U. (2002) The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc. Natl Acad. Sci. USA, 99, 14946-14951.
20. Cuppen, E., Gerrits, H., Pepers, B., Wieringa, B. and Hendriks, W. (1998) PDZ motifs in PTP-BL and RIL bind to internal protein segments in the LIM domain protein RIL. Mol. Biol. Cell, 9, 671-683.
21. Boëda, B., El-Amraoui, A., Bahloul, A., Goodyear, R., Daviet, L., Blanchard, S., Perfettini, I., Fath, K.R., Shorte, S., Reiners, J. et al. (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J., 21, 6689-6699.
22. Delprat, B., Michel, V., Goodyear, R., Yamasaki, Y., Michalski, N., El-Amraoui, A., Perfettini, I., Legrain, P., Richardson, G., Hardelin, J.P. and Petit, C. (2005) Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum. Mol. Genet., 14, 401-410.
23. Senften, M., Schwander, M., Kazmierczak, P., Lillo, C., Shin, J.B., Hasson, T., Geleoc, G.S., Gillespie, P.G., Williams, D., Holt, J.R. and Müller, U. (2006) Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J. Neurosci., 26, 2060-2071.
24. Ishikawa, S., Kobayashi, I., Hamada, J., Tada, M., Hirai, A., Furuuchi, K., Takahashi, Y., Ba, Y. and Moriuchi, T. (2001) Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain Protein AIE-75. Gene, 267, 101-110.
25. Johnston, A.M., Naselli, G., Niwa, H., Brodnicki, T., Harrison, L.C. and Gonez, L.J. (2004) Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues. Genes Cells, 9, 967-982.
26. Yan, D., Li, F., Hall, M.L., Sage, C., Hu, W.H., Giallourakis, C., Upadhyay, G., Ouyang, X.M., Du, L.L., Bethea, J.R. et al. (2006) An isoform of GTPase regulator DOCK4 localizes to the stereocilia in the inner ear and binds to harmonin (USH1C). J. Mol. Biol., 357, 755-764.
27. Yap, C.C., Liang, F., Yamazaki,, Y., Moto, Y., Kishida, H., Hayashida, T., Hashikawa, T. and Yano, R. (2003) CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase. J. Neurochem., 85, 123-134.
28. Belyantseva, I.A., Boger, E.T., Naz, S., Frolenkov, G.I., Sellers, J.R., Ahmed, Z.M., Griffith, A.J. and Friedman, T.B. (2005) Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat. Cell Biol., 7, 148-156.
29. Kussel-Andermann, P., El Amraoui, A., Safieddine, S., Hardelin, J.P., Nouaille, S., Camonis, J. and Petit, C. (2000) Unconventional myosin VIIA is a novel A-kinase-anchoring protein. J. Biol. Chem., 275, 29654-29659.
30. Etournay, R., El-Amraoui, A., Bahloul, A., Blanchard, S., Roux, I., Pezeron, G., Michalski, N., Daviet, L., Hardelin, J.P., Legrain, P. and Petit, C. (2005) PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa. J. Cell Sci., 118, 2891-2899.
31. Watanabe, S., Ikebe, R. and Ikebe, M. (2006) Drosophila myosin VIIA is a high duty ratio motor with a unique kinetic mechanism. J. Biol. Chem., 281, 7151-7160.
32. Knight, P.J., Thirumurugan, K., Xu, Y., Wang, F., Kalverda, A.P., Stafford, W.F., III, Sellers, J.R. and Peckham, M. (2005) The predicted coiled-coil domain of myosin 10 forms a novel elongated domain that lengthens the head. J. Biol. Chem., 280, 34702-34708.
33. Inoue, A. and Ikebe, M. (2003) Characterization of the motor activity of mammalian myosin VIIA. J. Biol. Chem., 278, 5478-5487.
34. Gillespie, P.G. and Walker, R.G. (2001) Molecular basis of mechanosensory transduction. Nature, 413, 194-202.
35. Pickles, J.O. and Corey, D.P. (1992) Mechanoelectrical transduction by hair cells. Trends Neurosci., 15, 254-259.
36. Frolenkov, G.I., Belyantseva, I.A., Friedman, T.B. and Griffith, A.J. (2004) Genetic insights into the morphogenesis of inner ear hair cells. Nat. Rev. Genet., 5, 489-498.
37. Müller, U. and Littlewood-Evans, A. (2001) Mechanisms that regulate mechanosensory hair cell differentiation. Trends Cell Biol., 11, 334-342.
38. Alagramam, K.N., Yuan, H., Kuehn, M.H., Murcia, C.L., Wayne, S., Srisailpathy, C.R., Lowry, R.B., Knaus, R., Van Laer, L., Bernier, F.P. et al. (2001) Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum. Mol. Genet., 10, 1709-1718.
39. 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. USA, 92, 9815-9819.
40. Self, T., Mahony, M., Fleming, J., Walsh, J., Brown, S.D. and Steel, K.P. (1998) Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development, 125, 557-566.
41. Wolfrum, U., Liu, X., Schmitt, A., Udovichenko, I.P. and Williams, D.S. (1998) Myosin VIIa as a common component of cilia and microvilli. Cell Motif. Cytoskeleton, 40, 261-271.
42. Lagziel, A., Ahmed, Z.M., Schultz, J.M., Morell, R.J., Belyantseva, I.A. and Friedman, T.B. (2005) Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev. Biol., 280, 295-306.
43. Wilson, S.M., Householder, D.B., Coppola, V., Tessarollo, L., Fritzsch, B., Lee, E.C., Goss, D., Carlson, G.A., Copeland, N.G. and Jenkins, N.A. (2001) Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. Genomics, 74, 228-233.
44. Rodieck, R.W. (1998) The First Steps in Seeing. Sinauer Associates, Inc., Sunderland, MA.
45. Reiners, J., Reidel, B., El Amraoui, A., Boeda, B., Huber, I., Petit, C. and Wolfrum, U. (2003) Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells. Invest. Ophthalmol Vis. Sci., 44, 5006-5015.
46. Goodyear, R. and Richardson, G. (1999) The ankle-link antigen: An epitope sensitive to calcium chelation associated with the hair-cell surface and the calycal processes of photoreceptors. J. Neurosci., 19, 3761-3772.
47. Goodyear, R.J. and Richardson, G.P. (2003) A novel antigen sensitive to calcium chelation that is associated with the tip links and kinocilial links of sensory hair bundles. J. Neurosci., 23, 4878-4887.
48. 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 Motil. Cytoskeleton, 37, 240-252.
49. Goodyear, R.J., Marcotti, W., Kros, C.J. and Richardson, G.P. (2005) Development and properties of stereociliary link types in hair cells of the mouse cochlea. J. Comp. Neurol., 485, 75-85.
50. Michel, V., Goodyear, R.J., Weil, D., Marcotti, W., Perfettini, I., Wolfrum, U., Kros, C.J., Richardson, G.P. and Petit, C. (2005) Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells. Dev. Biol., 280, 281-294.
51. Siemens, J., Lillo, C., Dumont, R.A., Reynolds, A., Williams, D.S., Gillespie, P.G. and Müller, U. (2004) Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature, 428, 950-955.
52. Sollner, C., Rauch, G.J., Siemens, J., Geisler, R., Schuster, S.C., Müller, U. and Nicolson, T. (2004) Mutations' in Cadherin 23 affect tip links in zebrafish sensory hair cells. Nature, 428, 955-959.
53. McGee, J., Goodyear, R.J., McMillan, D.R., Stauffer, E.A., Holt, J.R., Locke, K.G., Birch, D.G., Legan, P.K., White, P.C., Walsh, E.J. and Richardson, G.P. (2006) The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J. Neurosci., 26, 6543-6553.
54. Küssel-Andermann, P., El-Amraoui, A., Safieddine, S., Nouaille, S., Perfettini, I., Lecuit, M., Cossart, P., Wolfrum, U. and Petit, C. (2000) Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex. EMBO J., 19, 6020-6029.
55. Kachar, B., Battaglia, A. and Fex, J. (1997) Compartmentalized vesicular traffic around the hair cell cuticular plate. Hear. Res., 107, 102-112.
56. Prescott, E.D. and Zenisek, D. (2005) Recent progress towards understanding the synaptic ribbon. Curr. Opin. Neurobiol., 15, 431-436.
57. Garner, C.C., Nash, J. and Huganir, R.L. (2000) PDZ domains in synapse assembly and signalling. Trends Cell Biol., 10, 274-280.
58. Davies, C., Tingley, D., Kachar, B., Wenthold, R.J. and Petralia, R.S. (2001) Distribution of members of the PSD-95 family of MAGUK proteins at the synaptic region of inner and outer hair cells of the guinea pig cochlea. Synapse, 40, 258-268.
59. Heidelberger, R., Thoreson, W.B. and Witkovsky, P. (2005) Synaptic transmission at retinal ribbon synapses. Prog. Retin. Eye Res., 24, 682-720.
60. Kim, E. and Sheng, M. (2004) PDZ domain proteins of synapses. Nat. Rev. Neurosci., 5, 771-781.
61. Nagle, B.W., Okamoto, C., Taggart, B. and Burnside, B. (1986) The teleost cone cytoskeleton. Localization of actin, microtubules, and intermediate filaments. Invest. Ophthalmol. Vis. Sci., 27, 689-701.
62. Cohen, A.I. (1963) Vertebrate retinal cells and their organization. Biol. Rev. Camb. Phil. Soc., 38, 427-459.
63. Papermaster, D.S. (2002) The birth and death of photoreceptors: The Friedenwald lecture. Invest. Ophthalmol. Vis. Sci., 43, 1300-1309.
64. Dose, A.C., Hillman, D.W., Wong, C., Sohlberg, L., Lin-Jones, J. and Burnside, B. (2003) Myo3A, one of two class III myosin genes expressed in vertebrate retina, is localized to the calycal processes of rod and cone photoreceptors and is expressed in the sacculus. Mol. Biol. Cell, 14, 1058-1073.
65. Walsh, T., Walsh, V., Vreugde, S., Hertzano, R., Shahin, H., Haika, S., Lee, M.K., Kanaan, M., King, M.C. and Avraham, K.B. (2002) From flies' eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc. Natl Acad. Sci. USA, 99, 7518-7523.
66. Deretic, D., Huber, L.A., Ransom, N., Mancini, M., Simons, K. and Papermaster, D.S. (1995) rab8 in retinal photoreceptors may participate in rhodopsin transport and in rod outer segment disk morphogenesis. J. Cell Sci., 108, 215-224.
67. Rzadzinska, A.K., Schneider, M.E., Davies, C., Riordan, G.P. and Kachar, B. (2004) An actin molecular treadmill and myosins maintain stereocilia functional architecture and self-renewal. J. Cell Biol., 164, 887-897.
68. Heggeness, M.H., Ash, J.F. and Singer, S.J. (1978) Transmembrane linkage of fibronectin to intracellular actin-containing filaments in cultured human fibroblasts. Ann. N.Y. Acad. Sci., 312, 414-417.
69. Keski-Oja, J. and Yamada, K.M. (1981) Isolation of an actin-binding fragment of fibronectin. Biochem. J., 193, 615-620.
70. Tamkun, J.W., DeSimone, D.W., Fonda, D., Patel, R.S., Buck, C., Horwitz, A.F. and Hynes, R.O. (1986) Structure of integrin, a glycoprotein involved in the transmembrane linkage between fibronectin and actin. Cell, 46, 271-282.
71. Udovichenko, I.P., Gibbs, D. and Williams, D.S. (2002) Actin-based motor properties of native myosin VIIa. J. Cell Sci., 115, 445-450.
72. El-Amraoui, A., Schonn, J.S., Küssel-Andermann, P., Blanchard, S., Desnos, C., Henry, J.P., Wolfrum, U., Darchen, F. and Petit, C. (2002) MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes. EMBO Rep., 3, 463-470.
73. Fukuda, M. and Kuroda, T.S. (2002) Slac2-c (synaptotagmin-like protein homologue lacking C2 domains-c), a novel linker protein that interacts with Rab27, myosin Va/VIIa, and actin. J. Biol. Chem., 277, 43096-43103.
74. Velichkova, M., Guttman, J., Warren, C., Eng, L., Kline, K., Vogl, A.W. and Hasson, T. (2002) A human homologue of Drosophila kelch associates with myosin-VIIa in specialized adhesion junctions. Cell Motil. Cytoskeleton, 51, 147-164.
75. Kang, M.I., Kobayashi, A., Wakabayashi, N., Kim, S.G. and Yamamoto, M. (2004) Scaffolding of Keap1 to the actin cytoskeleton controls the function of Nrf2 as key regulator of cytoprotective phase 2 genes. Proc. Natl Acad. Sci. USA, 101, 2046-2051.
76. Schmidt, A. and Hall, M.N. (1998) Signaling to the actin cytoskeleton. Annu. Rev. Cell Dev. Biol., 14, 305-338.
77. Lin, H.W., Schneider, M.E. and Kachar, B. (2005) When size matters: The dynamic regulation of stereocilia lengths. Curr. Opin. Cell Biol., 17, 55-61.
78. Luo, L. (2002) Actin cytoskeleton regulation in neuronal morphogenesis and structural plasticity. Annu. Rev. Cell Dev. Biol., 18, 601-635.
79. Wang, Y., Jin, G., Miao, H., Li, J.Y., Usami, S. and Chien, S. (2006) Integrins regulate VE-cadherin and catenins: Dependence of this regulation on Src, but not on Ras. Proc. Natl Acad. Sci. USA, 103, 1774-1779.
80. Wang, Z., Symons, J.M., Goldstein, S.L., McDonald, A., Miner, J.H. and Kreidberg, J.A. (1999) (Alpha)3(beta)1 integrin regulates epithelial cytoskeletal organization). J. Cell Sci., 112, 2925-2935.
81. Yamada, S., Pokutta, S., Drees, F., Weis, W.I. and Nelson, W.J. (2005) Deconstructing the cadherin-catenin-actin complex. Cell, 123, 889-901.
82. Drees, F., Pokutta, S., Yamada, S., Nelson, W.J. and Weis, W.I. (2005) Alpha-catenin is a molecular switch that binds E-cadherin-beta-catenin and regulates actin-filament assembly. Cell, 123, 903-915.
83. Yajnik, V., Paulding, C., Sordella, R., McClatchey, A.I., Saito, M., Wahrer, D.C., Reynolds, P., Bell, D.W., Lake, R., van den Heuvel, S. et al. (2003) DOCK4, a GTPase activator, is disrupted during tumorigenesis. Cell, 112, 673-684.
84. Bhattacharya, G. and Cosgrove, D. (2005) Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes. Biochemistry, 44, 11518-11524.
85. Bhattacharya, G., Kalluri, R., Orten, D.J., Kimberling, W.J. and Cosgrove, D. (2004) A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure. J. Cell Sci., 117, 233-242.
86. Ginsberg, M.H., Partridge, A. and Shattil, S.J. (2005) Integrin regulation. Curr. Opin. Cell Biol., 17, 509-516.
87. Palazzo, A.F., Eng, C.H., Schlaepfer, D.D., Marcantonio, E.E. and Gundersen, G.G. (2004) Localized stabilization of microtubules by integrin- and FAK-facilitated Rho signaling. Science, 303, 836-839.
88. Todorov, P.T., Hardisty, R.E. and Brown, S.D. (2001) Myosin VIIA is specifically associated with calmodulin and microtubule-associated protein-2B (MAP-2B). Biochem. J., 354, 267-274.
89. Wolfrum, U. and Schmitt, A. (2000) Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells. Cell Motil. Cytoskeleton, 46, 95-107.
90. Liu, X., Udovichenko, I.P., Brown, S.D., Steel, K.P. and Williams, D.S. (1999) Myosin VIIa participates in opsin transport through the photoreceptor cilium. J. Neurosci., 19, 6267-6274.
91. Brown, S.S. (1999) Cooperation between microtubule- and actin-based motor proteins. Annu. Rev. Cell Dev. Biol., 15, 63-80.
92. Barrong, S.D., Chaitin, M.H., Fliesler, S.J., Possin, D.E., Jacobson, S.G. and Milam, A.H. (1992) Ultrastructure of connecting cilia in different forms of retinitis pigmentosa. Arch. Ophthalmol., 110, 706-710.
93. Badano, J.L., Teslovich, T.M. and Katsanis, N. (2005) The centrosome in human genetic disease. Nat. Rev. Genet., 6, 194-205.
94. Ross, A.J., May-Simera, H., Eichers, E.R., Kai, M., Hill, J., Jagger, D.J., Leitch, C.C., Chapple, J.P., Munro, P.M., Fisher, S. et al. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat. Genet., 37, 1135-1140.
95. Omori, Y., Malicki, J. (2006) Oko meduzy and related crumbs genes are determinants of apical cell features in the vertebrate embryo. Curr. Biol., 16, 945-957.