Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration

Experimental Eye Research

Volumn 77, Issue 6, 2003, Pages 731-739

  Libby, Richard T ^a   Kitamoto, Junko ^b   Holme, Ralph H ^a   Williams, David S ^b   Steel, Karen P ^a,c  

^a MRC INSTITUTE OF HEARING RESEARCH   (United Kingdom)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

Cadherin; Electroretinography; Genetic diseases; Mouse mutant; Myosin VIIa; Usher syndrome

Indexed keywords

CADHERIN; ISOPROTEIN; MYOSIN;

ALLELE; ANATOMY; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ELECTRORETINOGRAPHY; GENE INTERACTION; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; MICROSCOPY; MOUSE; MOUSE STRAIN; NONHUMAN; PHENOTYPE; PHYSIOLOGY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; RETINA DEGENERATION; RETINA DISEASE; STATISTICAL SIGNIFICANCE;

EID: 0242509950     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exer.2003.07.007     Document Type: Article

References (38)

1. Ahmed Z.M., Riazuddin S., Bernstein S.L., Ahmed Z., Khan S., Griffith A.J., Morell R.J., Friedman T.B., Wilcox E.R. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am. J. Hum. Genet. 69:2001;25-34.
2. 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., Schwartz S., Lee C., Morton C.C., Mullins R.F., Ramesh A., Van Camp G., Hagemen G.S., Woychik R.P., Smith R.J. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum. Mol. Genet. 10:2001;1709-1718.
3. Astuto L.M., Bork J.M., Weston M.D., Askew J.W., Fields R.R., Orten D.J., Ohliger S.J., Riazuddin S., Morell R.J., Khan S., Kremer H., Van Hauwe P., Moller C.G., Cremers C.W., Ayuso C., Heckenlively J.R., Rohrschneider K., Spandau U., Greenberg J., Ramesar R., Reardon W., Bitoun P., Millan J., Legge R., Friedman T.B., Kimberling W.J. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am. J. Hum. Genet. 71:2002;262-275.
4. Bitner-Glindzicz M., Lindley K.J., Rutland P., Blaydon D., Smith V.V., Milla P.J., Hussain K., Furth-Lavi J., Cosgrove K.E., Shepherd R.M., Barnes P.D., O'Brien R.E., Farndon P.A., Sowden J., Liu X.Z., Scanlan M.J., Malcolm S., Dunne M.J., Aynsley-Green A., Glaser B. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat. Genet. 26:2000;56-60.
5. Boeda B., El-Amraoui A., Bahloul A., Goodyear R., Daviet L., Blanchard S., Perfettini I., Fath K.R., 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. 21:2002;6689-6699.
6. Bolz H., von Brederlow B., Ramirez A., Bryda E.C., Kutsche K., Nothwang H.G., Seeliger M., del C S.C.M., Vila M.C., Molina O.P., Gal A., Kubisch C. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat. Genet. 27:2001;108-112.
7. Bork J.M., Peters L.M., Riazuddin S., Bernstein S.L., Ahmed Z.M., Ness S.L., Polomeno R., Ramesh A., Schloss M., Srisailpathy C.R., Wayne S., Bellman S., Desmukh D., Ahmed Z., Khan S.N., Kaloustian V.M., Li X.C., Lalwani A., Bitner-Glindzicz M., Nance W.E., Liu X.Z., Wistow G., Smith R.J., Griffith A.J., Wilcox E.R., Friedman T.B., Morell R.J. 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. 68:2001;26-37.
8. Boughman J.A., Vernon M., Shaver K.A. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J. Chronic Dis. 36:1983;595-603.
9. Brown K.T., Wiesel T.N. Localization of origins of electroretinogram components by intraretinal recording in the intact cat eye. J. Physiol. 158:1961;257-280.
10. Deol M.S. The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. Proc. R. Soc. B. 145:1956;206-213.
11. Di Palma F., Holme R.H., Bryda E.C., Belyantseva I.A., Pellegrino R., Kachar B., Steel K.P. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat. Genet. 27:2001;103-107.
12. Gibson F., Walsh J., Mburu P., Varela A., Brown K.A., Antonio M., Beisel K.W., Steel K.P., Brown S.D. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature. 374:1995;62-64.
13. Green D.G., Kapousta-Bruneau N.V. A dissection of the electroretinogram from the isolated rat retina with microelectrodes and drugs. Vis. Neurosci. 16:1999;727-741.
14. Gurevich L., Slaughter M.M. Comparison of the waveforms of the ON bipolar neuron and the b-wave of the electroretinogram. Vis. Res. 33:1993;2431-2435.
15. Hasson T., Walsh J., Cable J., Mooseker M.S., Brown S.D., Steel K.P. Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression. Cell Motil. Cytoskeleton. 37:1997;127-138.
16. Hood D.C., Birch D.G. Assessing abnormal rod photoreceptor activity with the a-wave of the electroretinogram: applications and methods. Doc. Ophthalmol. 92:1996;253-267.
17. Holme R.H., Steel K.P. Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hear Res. 169:2002;13-23.
18. Keats B.J., Corey D.P. The Usher syndromes. Am. J. Med. Genet. 89:1999;158-166.
19. Kimberling W.J., Orten D., Pieke-Dahl S. Genetic heterogeneity of Usher syndrome. Adv. Otorhinolaryngol. 56:2000;11-18.
20. Kros C.J., Marcotti W., van Netten S.M., Self T.J., Libby R.T., Brown S.D., Richardson G.P., Steel K.P. Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations. Nat. Neurosci. 5:2002;41-47.
21. Kussel-Andermann P., El-Amraoui A., Safieddine S., Nouaille S., Perfettini I., Lecuit M., Cossart P., Wolfrum U., Petit C. Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex. EMBO J. 19:2000;6020-6029.
22. Lamb T.D. Gain and kinetics of activation in the G-protein cascade of phototransduction. Proc. Nat. Acad. Sci. 93:1996;566-570.
23. Libby R.T., Steel K.P. Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. Invest. Ophthalmol. Vis. Sci. 42:2001;770-778.
24. Liu X.Z., Hope C., Walsh J., Newton V., Ke X.M., Liang C.Y., Xu L.R., Zhou J.M., Trump D., Steel K.P., Bundey S., Brown S.D. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am. J. Hum. Genet. 63:1998;909-912.
25. Liu X., Ondek B., Williams D.S. Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice. Nat. Genet. 19:1998;117-118.
26. Liu X., Udovichenko I.P., Brown S.D., Steel K.P., Williams D.S. Myosin VIIa participates in opsin transport through the photoreceptor cilium. J. Neurosci. 19:1999;6267-6274.
27. Lord E.M., Gates W.H. Shaker, a new mutation of the house mouse (Mus musculus). Am. Nat. 63:1929;435-442.
28. Lyubarsky A.L., Pugh E.N. Recovery phase of the murine rod photoresponse reconstructed from electroretinographic recordings. J. Neurosci. 16:1996;563-571.
29. Mburu P., Liu X.Z., Walsh J., Saw D. Jr., Cope M.J., Gibson F., Kendrick-Jones J., Steel K.P., Brown S.D. Mutation analysis of the mouse myosin VIIA deafness gene. Genes Funct. 1:1997;191-203.
30. Penn R.D., Hagins W.A. Signal transmission along retinal rods and the origin of the electroretinographic a-wave. Nature. 223:1969;201-204.
31. Petit C. Usher syndrome: from genetics to pathogenesis. Ann. Rev. Genomics Hum. Genet. 2:2001;271-297.
32. Seeliger M.W., Zrenner E., Apfelstedt-Sylla E., Jaissle G.B. Identification of Usher syndrome subtypes by ERG implicit time. Invest. Ophthalmol. Vis. Sci. 42:2001;3066-3071.
33. 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. Nat. Acad. Sci. USA. 99:2002;14946-14951.
34. Smith R.J., Berlin C.I., Hejtmancik J.F., Keats B.J., Kimberling W.J., Lewis R.A., Moller C.G., Pelias M.Z., Tranebjaerg L. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am. J. Med. Genet. 50:1994;32-38.
35. Stockton R.A., Slaughter M.M. B-wave of the electroretinogram. A reflection of ON bipolar cell activity. J. Gen. Physiol. 93:1989;101-122.
36. Verpy E., Leibovici M., Zwaenepoel I., Liu X.Z., Gal A., Salem N., Mansour A., Blanchard S., Kobayashi I., Keats B.J., 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. 26:2000;51-55.
37. Weil D., Blanchard S., Kaplan J., Guilford P., Gibson F., Walsh J., Mburu P., Varela A., Levilliers J., Weston M.D., et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 374:1995;60-61.
38. Wilson S.M., Householder D.B., Coppola V., Tessarollo L., Fritzsch B., Lee E.C., Goss D., Carlson G.A., Copeland N.G., Jenkins N.A. Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. Genomics. 74:2001;228-233.