Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C)

Molecular Vision

Volumn 11, Issue , 2005, Pages 347-355

  Reiners, Jan ^a   Märker, Tina ^a   Jürgens, Karin ^a   Reidel, Boris ^a   Wolfrum, Uwe ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BACTERIAL PROTEIN; CADHERIN; COMPLEMENTARY DNA; FLUORESCENT DYE; GLUTATHIONE TRANSFERASE; MEPROBAMATE; MYOSIN V; PHOTOCADHERIN 15; PROTEIN ANTIBODY; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG; USHER SYNDROME TYPE 1 PROTEIN;

ANIMAL TISSUE; ARTICLE; BINDING ASSAY; CYTOSKELETON; FLUORESCENCE MICROSCOPY; HUMAN; IMMUNOELECTRON MICROSCOPY; IN VITRO STUDY; MORPHOGENESIS; NONHUMAN; OPTIC DISK; PHENOTYPE; PHOTORECEPTOR CELL; POSTSYNAPTIC MEMBRANE; PRESYNAPTIC MEMBRANE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; RAT; RETINA CONE; RETINA ROD; RETINITIS PIGMENTOSA; SYNAPTIC TRANSMISSION; TWO HYBRID SYSTEM; USHER SYNDROME; WESTERN BLOTTING;

ANIMALS; BLOTTING, WESTERN; CADHERINS; CARRIER PROTEINS; CLONING, MOLECULAR; DYNEIN ATPASE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENE EXPRESSION; HUMANS; MICE; MICE, INBRED C57BL; MICROSCOPY, IMMUNOELECTRON; MYOSINS; NERVE TISSUE PROTEINS; PHOTORECEPTORS, VERTEBRATE; PROTEIN BINDING; PROTEIN PRECURSORS; RATS; RATS, WISTAR; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TWO-HYBRID SYSTEM TECHNIQUES;

EID: 25444448312     PISSN: 10900535     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (43)

1. Davenport SLH, Omenn GS. The heterogeneity of Usher syndrome. In: Littlefield JW, Ebbing FJG, Henderson JW, editors. Fifth International Conference on Birth Defects. Amsterdam: Excertpta Medica; 1977. p. 87-8.
2. Petit C. Usher syndrome: from genetics to pathogenesis. Annu Rev Genomics Hum Genet 2001; 2:271-97.
3. Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. The molecular genetics of Usher syndrome. Clin Genet 2003; 63:431-44.
4. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Levi-Acobas F, Larget-Piet D, Munnich A, Steel KP, Brown SDM, Petit C. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995; 374:60-1.
5. Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S,Dunne MJ, Aynsley-Green A, Glaser B. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 2000; 26:56-60.
6. Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 2000; 26:51-5.
7. Sheng M, Sala C. PDZ domains and the organization of supramolecular complexes. Annu Rev Neurosci 2001; 24:1-29.
8. Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 2003; 12:463-71.
9. Bolz H, von Brederlow B, Ramirez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedo Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 2001; 27:108-12.
10. Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. 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 2001; 68:26-37.
11. Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 2001; 69:25-34.
12. Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ, Hagemen GS. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 2001; 10:1709-18. Erratum in: Hum Mol Genet 2001; 10:2603.
13. Boeda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J 2002; 21:6689-99.
14. Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Muller U. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci U S A 2002; 99:14946-51.
15. Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C. Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet 2005; 14:347-56.
16. Bolz H, Reiners J, Wolfrum U, Gal A. Role of cadherins in Ca2+-mediated cell adhesion and inherited photoreceptor degeneration. Adv Exp Med Biol 2002; 514:399-410.
17. Reiners J, Reidel B, El-Amraoui A, Boeda B, Huber I, Petit C, Wolfrum U. Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells. Invest Ophthalmol Vis Sci 2003; 44:5006-15.
18. el-Amraoui A, Sahly I, Picaud S, Sahel J, Abitbol M, Petit C. Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum Mol Genet 1996; 5:1171-8.
19. Wolfrum U. Centrin- and α-actinin-like immunoreactivity in the ciliary rootlets of insect sensilla. Cell Tissue Res 1991; 266:231-238.
20. Wolfrum U, Schmitt A. Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells. Cell Motil Cytoskeleton 2000; 46:95-107.
21. Danscher G. Histochemical demonstration of heavy metals. A revised version of the sulphide silver method suitable for both light and electronmicroscopy. Histochemistry 1981; 71:1-16.
22. Yap AS, Brieher WM, Pruschy M, Gumbiner BM. Lateral clustering of the adhesive ectodomain: a fundamental determinant of cadherin function. Curr Biol 1997; 7:308-15.
23. Nourry C, Grant SG, Borg JP. PDZ domain proteins: plug and play! Sci STKE 2003; 2003:RE7.
24. Adams CL, Nelson WJ. Cytomechanics of cadherin-mediated cell-cell adhesion. Curr Opin Cell Biol 1998; 10:572-7.
25. Vasioukhin V, Fuchs E. Actin dynamics and cell-cell adhesion in epithelia. Curr Opin Cell Biol 2001; 13:76-84.
26. Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet 2003; 12:3215-23.
27. Marrs JA, Andersson-Fisone C, Jeong MC, Cohen-Gould L, Zurzolo C, Nabi IR, Rodriguez-Boulan E, Nelson WJ. Plasticity in epithelial cell phenotype: modulation by expression of different cadherin cell adhesion molecules. J Cell Biol 1995; 129:507-19.
28. Burke JM, Cao F, Irving PE, Skumatz CM. Expression of E-cadherin by human retinal pigment epithelium: delayed expression in vitro. Invest Ophthalmol Vis Sci 1999; 40:2963-70.
29. Blanks JC, Johnson LV. Selective lectin binding of the developing mouse retina. J Comp Neurol 1983; 221:31-41.
30. Wolfrum U. Centrin in the photoreceptor cells of mammalian retinae. Cell Motil Cytoskeleton 1995; 32:55-64.
31. Wolfrum U, Giessl A, Pulvermuller A. Centrins, a novel group of Ca2+-binding proteins in vertebrate photoreceptor cells. Adv Exp Med Biol 2002; 514:155-78.
32. Rattner A, Smallwood PM, Williams J, Cooke C, Savchenko A, Lyubarsky A, Pugh EN, Nathans J. A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival. Neuron 2001; 32:775-86.
33. Young RW, Bok D. Participation of the retinal pigment epithelium in the rod outer segment renewal process. J Cell Biol 1969; 42:392-403.
34. Williams DS, Linberg KA, Vaughan DK, Fariss RN, Fisher SK. Disruption of microfilament organization and deregulation of disk membrane morphogenesis by cytochalasin D in rod and cone photoreceptors. J Comp Neurol 1988; 272:161-76.
35. Williams DS, Hallett MA, Arikawa K. Association of myosin with the connecting cilium of rod photoreceptors. J Cell Sci 1992; 103:183-90.
36. Arikawa K, Williams DS. Organization of actin filaments and immunocolocalization of alpha-actinin in the connecting cilium of rat photoreceptors. J Comp Neurol 1989; 288:640-6.
37. van de Pavert SA, Kantardzhieva A, Malysheva A, Meuleman J, Versteeg I, Levelt C, Klooster J, Geiger S, Seeliger MW, Rashbass P, Le Bivic A, Wijnholds J. Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure. J Cell Sci 2004; 117:4169-77.
38. Brandstatter JH, Dick O, Boeckers TM. The postsynaptic scaffold proteins ProSAP1/Shank2 and Homer1 are associated with glutamate receptor complexes at rat retinal synapses. J Comp Neurol 2004; 475:551-63.
39. Garner CC, Nash J, Huganir RL. PDZ domains in synapse assembly and signalling. Trends Cell Biol 2000; 10:274-80.
40. Scheiffele P, Fan J, Choih J, Fetter R, Serafini T. Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell 2000; 101:657-69.
41. Bruses JL. Cadherin-mediated adhesion at the interneuronal synapse. Curr Opin Cell Biol 2000; 12:593-7.
42. Togashi H, Abe K, Mizoguchi A, Takaoka K, Chisaka O, Takeichi M. Cadherin regulates dendritic spine morphogenesis. Neuron 2002; 35:77-89.
43. Giessl A, Pulvermuller A, Trojan P, Park JH, Choe HW, Ernst OP, Hofmann KP, Wolfrum U. Differential expression and interaction with the visual G-protein transducin of centrin isoforms in mammalian photoreceptor cells. J Biol Chem 2004; 279:51472-81.