Differential Distribution of Harmonin Isoforms and Their Possible Role in Usher-1 Protein Complexes in Mammalian Photoreceptor Cells

Investigative Ophthalmology and Visual Science

Volumn 44, Issue 11, 2003, Pages 5006-5015

  Reiners, Jan ^a   Reidel, Boris ^a   El Amraoui, Aziz ^b   Boëda, Batiste ^b   Huber, Irene ^c   Petit, Christine ^b   Wolfrum, Uwe ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b INSTITUT PASTEUR   (France)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; CADHERIN 23; ISOPROTEIN; MEPROBAMATE; MYOSIN; MYOSIN VIIA; RECEPTOR PROTEIN; UNCLASSIFIED DRUG; USHER 1 PROTEIN;

ANIMAL TISSUE; ARTICLE; CELL FUNCTION; CELLULAR DISTRIBUTION; COMPLEX FORMATION; CONTROLLED STUDY; ELECTRON MICROSCOPY; IMMUNOFLUORESCENCE; MAMMAL; MOUSE; NONHUMAN; PATHOGENESIS; PHOTORECEPTOR; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RAT; RETINITIS PIGMENTOSA; SYNAPSE; WESTERN BLOTTING;

ANIMALS; BLOTTING, WESTERN; CADHERINS; CARRIER PROTEINS; DYNEIN ATPASE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; MICE; MICE, INBRED C57BL; MICROSCOPY, FLUORESCENCE; MICROSCOPY, IMMUNOELECTRON; MYOSINS; PHOTORECEPTORS, VERTEBRATE; PROTEIN ISOFORMS; RATS; RATS, WISTAR; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SUBCELLULAR FRACTIONS; SYNAPTOPHYSIN;

EID: 0142200818     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.03-0483     Document Type: Article

References (47)

1. Petit C. Usher syndrome: from genetics to pathogenesis. Annu Rev Genomics Hum Genet. 2001;2:271-297.
2. Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995;374:60-61.
3. Verpy E, Leibovici M, Zwaenepoel I, et al. 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;26:51-55.
4. Bitner-Glindzicz M, Lindley KJ, Rutland P, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet. 2000;26:56-60.
5. Sheng M, Sala C. PDZ domains and the organization of supramolecular complexes. Annu Rev Neurosci. 2001;24:1-29.
6. Bolz H, von Brederlow B, Ramirez A, et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet. 2001;27:108-112.
7. Bork JM, Peters LM, Riazuddin S, et al. 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.
8. Ahmed ZM, Riazuddin S, Bernstein SL, et al. Mutations of the protocadherin gene PCDH15 cause usher syndrome type 1F. Am J Hum Genet. 2001;69:25-34.
9. Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Woychik RP. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet. 2001;27:99-102.
10. Alagramam KN, Yuan HJ, Kuehn MH, et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet. 2001;10:1709-1718.
11. Weil D, El-Amraoui A, Masmoudi S, et al. 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;12:463-471.
12. Siemens J, Kazmierczak P, Reynolds A, et al. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci USA. 2002;99:14946-14951.
13. Boëda B, El-Amraoui A, Bahloul A, et al. Myosin VIIa, harmonin and cadherin 23, three Usher 1 gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 2002;21:6689-6699.
14. Liu XR, Vansant G, Udovichenko IP, Wolfrum U, Williams DS. Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells. Cell Motil Cytoskeleton. 1997;37:240-252.
15. Liu XR, Ondek B, Williams DS. Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice. Nat Genet. 1998;19:117-118.
16. Liu X, Udovichenko IP, Brown SD, Steel KP, Williams DS. Myosin VIIa participates in opsin transport through the photoreceptor cilium. J Neurosci. 1999;19:6267-6274.
17. Wolfrum U, Schmitt A. Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells. Cell Motil Cytoskeleton. 2000;46:95-107.
18. Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc Natl Acad Sci USA. 1995;92:9815-9819.
19. Kobayashi I, Imamura K, Kubota M, et al. Identification of an autoimmune enteropathy-related 75-kilodalton antigen. Gastroenterology. 1999;117:823-830.
20. Papermaster DS. Preparation of retinal rod outer segments. Methods Enzymol. 1982;81:48-52.
21. Hirao K, Hata Y, Ide N, et al. A novel multiple PDZ-domain-containing molecule interacting with N-Methyl-D-aspartate receptors and neuronal cell adhesion proteins. J Biol Chem. 1998;273:21105-21110.
22. Sokolov M, Lyubarsky AL, Strissel KJ, et al. Massive light-driven translocation of transducin between the two major compartments of rod cells: a novel mechanism of light adaptation. Neuron. 2002;33:95-106.
23. Wolfrum U. Centrin- and α-actinin-like immunoreactivity in the ciliary rootlets of insect sensilla. Cell Tissue Res. 1991;266:231-238.
24. Danscher G. Histochemical demonstration of heavy metals: a revised version of the sulphide silver method suitable for both light and electron microscopy. Histochemistry. 1981;71:1-16.
25. Scanlan MJ, Williamson B, Jungbluth A, et al. Isoforms of the human PDZ-73 protein exhibit differential tissue expression. Biochem Biophys Acta. 1999;1445:39-52.
26. 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;5:1171-1178.
27. Dick O, Hack I, Altrock WD, Garner CC, Gundelfinger ED, Brandstätter JH. Localization of the presynaptic cytomatrix protein Piccolo at ribbon and conventional synapses in the rat retina: comparison with Bassoon. J Comp Neurol. 2001;439:224-234.
28. Venkatesh B, Gilligan P, Brenner S. Fugu: a compact vertebrate reference genome. FEBS Lett. 2000;476:3-7.
29. Aparicio S, Chapman J, Stupka E, et al. Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science. 2002;297:1283-1285.
30. Tsunoda S, Sierralta J, Sun Y, et al. A multivalent PDZ-domain protein assembles signalling complexes in a G-protein-coupled cascade. Nature. 1997;388:243-249.
31. Zuker CS, Ranganathan R. The path to specificity. Science. 1999;283:650-651.
32. Montell C. Visual transduction in Drosophila. Annu Rev Cell Dev Biol. 1999;15:231-268.
33. Neer EJ. Heterotrimeric G proteins: organizers of transmembrane signals. Cell. 1995;80:249-257.
34. Hamm HE. The many faces of G protein signaling. J Biol Chem. 1998;273:669-672.
35. Gillespie PG, Walker RG. Molecular basis of mechanosensory transduction. Nature. 2001;413:194-202.
36. Körschen HG, Beyermann M, Müller F, et al. Interaction of glutamic acid-rich proteins with components of the cGMP-signaling pathway in rod photoreceptors. Nature. 1999;400:761-766.
37. Kajimura N, Harada Y, Usukura J. High-resolution freeze-etching replica images of the disk and the plasma membrane surfaces in purified bovine rod outer segments. J Electron Microsc. 2000;49:691-697.
38. Di Palma F, Pellegrino R, Noben-Trauth K. Genomic structure, alternative splice forms and normal and mutant alleles of cadherin (Cdh23). Gene. 2001;281:31-41.
39. 2+-mediated cell adhesion and inherited photoreceptor degeneration. Adv Ex Med Biol. 2002;514:399-410.
40. Perez-Moreno M, Jamora C, Fuchs E. Sticky business: orchestrating cellular signals at adherens junctions. Cell. 2003;112:535-548.
41. Schmitz F, Königstorfer A, Südhof TC. RIBEYE, a component of synaptic ribbons: a protein's journey through evolution provides insight into synaptic ribbon function. Neuron. 2000;28:857-872.
42. Garner CC, Nash J, Huganir RL. PDZ domains in synapse assembly and signalling. Trends Cell Biol. 2000;10:274-280.
43. Bruses JL. Cadherin-mediated adhesion at the interneuronal synapse. Curr Opin Cell Biol. 2000;12:593-597.
44. Scheiffele P, Fan J, Choih J, Fetter R, Serafini T. Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell. 2000;101:657-669.
45. Togashi H, Abe K, Mizoguchi A, Takaoka K, Chisaka O, Takeichi M. Cadherin regulates dendritic spine morphogenesis. Neuron. 2002;35:77-89.
46. Küssel-Andermann P, El-Amraoui A, Safieddine S, et al. Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex. EMBO J. 2000;19:6020-6029.
47. Libby RT, Steel KP. Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. Invest Ophthalmol Visual Sci. 2001;42:770-778.