Identification of the hair cell soma-1 antigen, hcs-1, as otoferlin

JARO - Journal of the Association for Research in Otolaryngology

Volumn 11, Issue 4, 2010, Pages 573-586

  Goodyear, Richard J ^a   Legan, P Kevin ^a   Christiansen, Jeffrey R ^b   Xia, Bei ^c   Korchagina, Julia ^a   Gale, Jonathan E ^d   Warchol, Mark E ^e   Corwin, Jeffrey T ^c   Richardson, Guy P ^a  

^a UNIVERSITY OF SUSSEX   (United Kingdom)

^b WEST VIRGINIA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF VIRGINIA   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

auditory system; balance; hearing; ribeye; vestibular system

Indexed keywords

CALCIUM; HAIR CELL SOMA 1; IMMUNOGLOBULIN G2A ANTIBODY; IMMUNOGLOBULIN G2B; MEMBRANE PROTEIN; MONOCLONAL ANTIBODY; OTOFERLIN; SODIUM CHLORIDE; UNCLASSIFIED DRUG;

AMPHIBIA; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTIBODY LABELING; ARTICLE; BASOLATERAL MEMBRANE; BIRD; CONTROLLED STUDY; CYTOPLASM; FEMALE; FISH; GENE MUTATION; HAIR CELL; HEARING IMPAIRMENT; IMMUNOCYTOCHEMISTRY; IMMUNOPRECIPITATION; MAMMAL; MOUSE; NONHUMAN; PRIORITY JOURNAL; SHARK; SYNAPSE VESICLE; VESTIBULOCOCHLEAR NERVE DISEASE;

AMINO ACID SEQUENCE; ANIMALS; ANTIBODIES, MONOCLONAL; CHICKENS; DEAFNESS; DOGFISH; GERBILLINAE; GUINEA PIGS; HAIR CELLS, AUDITORY, INNER; MEMBRANE PROTEINS; MODELS, ANIMAL; MOLECULAR SEQUENCE DATA; MUTATION; RANA CATESBEIANA; SYNAPTIC VESICLES; ZEBRAFISH;

EID: 78650175139     PISSN: 15253961     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10162-010-0231-6     Document Type: Article

References (58)

1. ZM Ahmed R Goodyear S Riazuddin A Lagziel PK Legan M Behra SM Burgess KS Lilley ER Wilcox S Riazuddin AJ Griffith GI Frolenkov IA Belyantseva GP Richardson TB Friedman 2006 The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15 J Neurosci 26 7022 7034 1:CAS:528:DC%2BD28XmvVGqt7k%3D 10.1523/JNEUROSCI.1163-06.2006 16807332 (Pubitemid 44309870)
2. D Bansal KP Campbell 2004 Dysferlin and the plasma membrane repair in muscular dystrophy Trends Cell Biol 14 206 213 1:CAS:528:DC%2BD2cXivVGjt7g%3D 10.1016/j.tcb.2004.03.001 15066638 (Pubitemid 38447120)
3. S Bartolami R Goodyear G Richardson 1991 Appearance and distribution of the 275 kD hair-cell antigen during development of the avian inner ear J Comp Neurol 314 777 788 1:STN:280:DyaK383ns1GitQ%3D%3D 10.1002/cne.903140410 1816275
4. M Beurg S Safieddine I Roux Y Bouleau C Petit D Dulon 2008 Calcium- and otoferlin-dependent exocytosis by immature outer hair cells J Neurosci 28 1798 1803 1:CAS:528:DC%2BD1cXnvVSrtLY%3D 10.1523/JNEUROSCI.4653-07.2008 18287496 (Pubitemid 351302659)
5. Bird JE, Daudet N, Warchol ME, Gale JE (2010) Supporting cells eliminate dying sensory hair cells to maintain epithelial integrity in the avian inner ear. J Neurosci (in press)
6. B Blasiole VA Canfield MA Vollrath D Huss MA Mohideen JD Dickman KC Cheng DM Fekete R Levenson 2006 Separate Na,K-ATPase genes are required for otolith formation and semicircular canal development in zebrafish Dev Biol 294 148 160 1:CAS:528:DC%2BD28XksVOmsL8%3D 10.1016/j.ydbio.2006.02.034 16566913
7. + channels in rodent inner hair cells J Neurosci 27 3174 3186 1:CAS:528:DC%2BD2sXktlKnsb8%3D 10.1523/JNEUROSCI.3965-06.2007 17376979 (Pubitemid 46474116)
8. O Bricaud A Collazo 2006 The transcription factor six1 inhibits neuronal and promotes hair cell fate in the developing zebrafish (Danio rerio) inner ear J Neurosci 26 10438 10451 1:CAS:528:DC%2BD28XhtFegur7K 10.1523/JNEUROSCI.1025- 06.2006 17035528 (Pubitemid 44564594)
9. W Cho RV Stahelin 2006 Membrane binding and subcellular targeting of C2 domains Biochim Biophys Acta 1761 838 849 1:CAS:528:DC%2BD28XpsVajsb8%3D 16945584 (Pubitemid 44332329)
10. BY Choi ZM Ahmed S Riazuddin MA Bhinder M Shahzad T Husnain S Riazuddin AJ Griffith TB Friedman 2009 Identities and frequencies of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan Clin Gent 75 237 243 1:CAS:528:DC%2BD1MXjvVWiu7k%3D 10.1111/j.1399-0004.2008.01128.x
11. N Daudet J Lewis 2005 Two contrasting roles for Notch activity in chick inner ear development: specification of prosensory patches and lateral inhibition of hair-cell differentiation Development 132 541 551 1:CAS:528:DC%2BD2MXhvVelur8%3D 10.1242/dev.01589 15634704 (Pubitemid 40277694)
12. S Dikgraaf 1933 Untersuchungen uber die Funktion der seitenorgane an fischen J Comp Physiol A 20 162 214
13. 2+-ATPase isoform 2a is the PMCA of hair bundles J Neurosci 21 5066 5078 1:CAS:528:DC%2BD3MXkvFSku7c%3D 11438582 (Pubitemid 32622932)
14. I Ebermann M Walger HP Scholl P Charbel Issa C Luke G Nurnberg R Lang-Roth C Becker P Nurnberg HJ Bolz 2007 Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction Hum Mutat 28 571 2007 1:CAS:528:DC%2BD2sXmsVymtbg%3D 10.1002/humu.20478 17301963 (Pubitemid 46744287)
15. PM Forlano DL Deitcher AH Bass 2005 Distribution of estrogen receptor alpha mRNA in the brain and inner ear of a vocal fish with comparisons to sites of aromatase expression J Comp Neurol 483 91 113 1:CAS:528:DC%2BD2MXhsFeku70%3D 10.1002/cne.20397 15672394 (Pubitemid 40170689)
16. JE Gale JR Meyers JT Corwin 2000 Solitary hair cells are distributed throughout the extramacular epithelium in the bullfrog's saccule J Assoc Res Otolaryngol 1 172 182 1:STN:280:DC%2BD3MvpslOqsQ%3D%3D 10.1007/s101620010037 11545144 (Pubitemid 32405386)
17. JE Gale JR Meyers A Periasamy JT Corwin 2002 Survival of bundleless hair cells and subsequent bundle replacement in the bullfrog's saccule J Neurobiol 50 81 92 10.1002/neu.10002 11793356 (Pubitemid 34094593)
18. A Ghysen C Dambly-Chaudiere 2007 The lateral line microcosmos Genes Dev 21 2118 2130 1:CAS:528:DC%2BD2sXhtVaks7zJ 10.1101/gad.1568407 17785522 (Pubitemid 47360834)
19. DA Girod LG Ducker EW Rubel 1989 Possible precursors of regenerated hair cells in the avian cochlea following acoustic trauma Hear Res 42 175 194 1:STN:280:DyaK3c7gvFyisA%3D%3D 10.1016/0378-5955(89)90143-3 2606802 (Pubitemid 19282915)
20. R Goodyear G Richardson 1992 Distribution of the 275 kD hair cell antigen and cell surface specializations on auditory and vestibular hair bundles in the chicken inner ear J Comp Neurol 325 243 256 1:STN:280:DyaK3s%2FpsVersQ%3D%3D 10.1002/cne.903250208 1281174
21. Goodyear R, Richardson G (1997) Pattern formation in the basilar papilla:evidence for cell rearrangement. J Neurosci 17:6239-6231
22. R Goodyear G Richardson 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 1:CAS:528:DyaK1MXjtV2rsbk%3D 10234008 (Pubitemid 29222252)
23. RJ Goodyear GP Richardson 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 1:CAS:528:DC%2BD3sXltlensb0%3D 12832510 (Pubitemid 36793214)
24. RJ Goodyear PK Legan MB Wright W Marcotti A Oganesian SA Coats CJ Booth CJ Kros RA Seifert DF Bowen-Pope GP Richardson 2003 A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles J Neurosci 23 9208 9219 1:CAS:528:DC%2BD3sXotFOmsLs%3D 14534255 (Pubitemid 37243822)
25. G Griffiths B Hoflack K Simons I Mellman S Kornfeld 1988 The mannose 6-phosphate receptor and the biogenesis of lysosomes Cell 52 329 341 1:CAS:528:DyaL1cXhs1Ggtrc%3D 10.1016/S0092-8674(88)80026-6 2964276 (Pubitemid 18057394)
26. P Heidrych U Zimmerman S Kuhn C Franz J Engel SV Dunckner B Hirt CM Pusch P Ruth M Pfister W Marcotti N Blin M Knipper 2009 Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell Hum Mol Genet 18 2779 2790 1:CAS:528:DC%2BD1MXosVagu7s%3D 10.1093/hmg/ddp213 19417007
27. Z Hu JT Corwin 2007 Inner ear hair cells produced in vitro by a mesenchymal-to-epithelial transition Proc Natl Acad Sci USA 104 16675 16680 1:CAS:528:DC%2BD2sXht1Wmu7zK 10.1073/pnas.0704576104 17895386 (Pubitemid 350211075)
28. AJ Hudspeth 1989 How the ear's works work Nature 341 397 404 1:STN:280:DyaK3c%2FhsFWgtQ%3D%3D 10.1038/341397a0 2677742 (Pubitemid 19241904)
29. NP Issa AJ Hudspeth 1996 Characterization of fluo-3 labeling of dense bodies at the hair cell's presynaptic active zone J Neurocytol 25 257 266 1:STN:280:DyaK28zosF2jsw%3D%3D 10.1007/BF02284801 8793731 (Pubitemid 26191515)
30. TN Judice NC Nelson CL Beisel DC Delimont B Fritzsch KW Beisel 2002 Cochlear whole mount in situ hybridization: identification of longitudinal and radial gradients Brain Res Brain Res Protoc 9 65 76 10.1016/S1385-299X(01)00138- 6 11852272 (Pubitemid 34164560)
31. M LeMasurier PG Gillespie 2005 Hair-cell mechanotransduction and cochlear amplification Neuron 48 403 415 1:CAS:528:DC%2BD2MXht1Kgs7nJ 10.1016/j.neuron.2005.10.017 16269359 (Pubitemid 41551947)
32. MA Lemmon 2008 Membrane recognition by phospholipid-binding domains Nat Rev Mol Cell Biol 9 99 111 1:CAS:528:DC%2BD1cXovFOntQ%3D%3D 10.1038/nrm2328 18216767 (Pubitemid 351158910)
33. D Lenzi JW Runyeon J Crum MH Ellisman WM Roberts 1999 Synaptic vesicle populations in saccular hair cells reconstructed by electron tomography J Neurosci 19 119 132 1:CAS:528:DyaK1MXkvFOluw%3D%3D 9870944 (Pubitemid 29028955)
34. C Longo-Guess LH Gagnon DE Bergstrom KR Johnson 2007 A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9 Hear Res 234 21 28 1:CAS:528:DC%2BD2sXhtlWkt7zF 10.1016/j.heares.2007.09. 005 17967520 (Pubitemid 350088327)
35. H Lopez-Schier AJ Hudspeth 2005 Supernumerary neuromasts in the posterior lateral line of zebrafish lacking peripheral glia Proc Natl Acad Sci USA 102 1496 1501 1:CAS:528:DC%2BD2MXhs1Klt70%3D 10.1073/pnas.0409361102 15677337 (Pubitemid 40209197)
36. H Lopez-Schier AJ Hudspeth 2006 A two-step mechanism underlies the planar polarization of regenerating sensory hair cells Proc Natl Acad Sci USA 103 18615 18620 1:CAS:528:DC%2BD28XhtlahtrzJ 10.1073/pnas.0608536103 17124170 (Pubitemid 44913459)
37. 2+ entry through mechanosensitive channels localizes the site of mechanoelectrical transduction in hair cells Proc Natl Acad Sci USA 92 10297 10301 1:CAS:528:DyaK2MXovFaltr8%3D 10.1073/pnas.92.22.10297 7479771 (Pubitemid 3001769)
38. EY Ma EW Rubel DW Raible 2008 Notch signaling regulates the extent of hair cell regeneration in the zebrafish lateral line J Neurosci 28 2261 2273 1:CAS:528:DC%2BD1cXjt1Gjsrs%3D 10.1523/JNEUROSCI.4372-07.2008 18305259 (Pubitemid 351317624)
39. J McGee RJ Goodyear DR McMillan EA Stauffer JR Holt KG Locke DG Birch PK Legan PC White EJ Walsh GP Richardson 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 1:CAS:528:DC%2BD28Xmt1ersL4%3D 10.1523/JNEUROSCI.0693-06.2006 16775142 (Pubitemid 44318335)
40. V Migliosi S Modamio-Hoybjor MA Moreno-Pelayo M Rodriguez-Ballesteros M Villamar D Telleria I Menendez F Moreno I Del Castillo 2002 Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss J Med Genet 39 502 506 1:CAS:528:DC%2BD38XmtlyktrY%3D 10.1136/jmg.39.7.502 12114484 (Pubitemid 34787745)
41. F Mirghomizadeh M Pfister F Apaydin C Petit S Kupka CM Pusch HP Zenner N Blin 2002 Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness Neurobiol Dis 10 157 164 1:CAS:528:DC%2BD38XltFyrtLk%3D 10.1006/nbdi.2002.0488 12127154 (Pubitemid 34775469)
42. D Molea JS Stone EW Rubel 1999 Class III beta-tubulin expression in sensory and nonsensory regions of the developing avian inner ear J Comp Neurol 406 183 198 1:CAS:528:DyaK1MXhvVKrsLc%3D 10.1002/(SICI)1096-9861(19990405)406: 2<183::AID-CNE4>3.0.CO;2-K 10096605 (Pubitemid 29113833)
43. NA Ramakrishnan MJ Drescher DG Drescher 2009 Direct interaction of otoferlin with syntaxin 1A, SNAP-25 and the L-type voltage-gated calcium channel J Biol Chem 16 1364 1372
44. GP Richardson S Bartolami IJ Russell 1990 Identification of a 275-kD protein associated with the apical surfaces of sensory hair cells in the avian inner ear J Cell Biol 110 1055 1066 1:CAS:528:DyaK3cXhvFGltLc%3D 10.1083/jcb.110.4.1055 2182645
45. M Rodriguez-Ballesteros FJ del Castillo Y Martin MA Moreno-Pelayo C Morera F Prieto J Marco A Morant J Gallo-Teran C Morales-Angulo C Navas G Trinidad MC Tapia F Moreno I del Castillo 2003 Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF) Hum Mutat 22 451 456 1:CAS:528:DC%2BD2cXps1Kq 10.1002/humu.10274 14635104 (Pubitemid 38009948)
46. I Roux S Safieddine R Nouvian M Grati MC Simmler A Bahloul I Perfettini M Le Gall P Rostaing G Hamard A Triller P Avan T Moser C Petit 2006 Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse Cell 127 277 289 1:CAS:528:DC%2BD28XhtFOkt73N 10.1016/j.cell.2006.08.040 17055430 (Pubitemid 44572372)
47. F Schmitz A Konigstorfer TC Sudhof 2000 RIBEYE, a component of synaptic ribbons: a protein's journey through evolution provides insight into synaptic ribbon function Neuron 28 857 872 1:CAS:528:DC%2BD3MXis1KjtQ%3D%3D 10.1016/S0896-6273(00)00159-8 11163272 (Pubitemid 32038077)
48. N Schug C Braig U Zimmermann J Engel H Winter P Ruth N Blin M Pfister H Kalbacher M Knipper 2006 Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat Eur J Neurosci 24 3372 3380 10.1111/j.1460-9568.2006.05225.x 17229086 (Pubitemid 44952603)
49. Schwander M, Sczaniecka A, Grillet N, Bailey JS, Avenarius M, Najmabadi H, Steffy BM, Federe GC, Lagler EA, Banan R, Hice R, Grabowski-Boase L, Keithley EM, Ryan AF, Housley GD, Wiltshire T, Smith RJ, Tarntino LM, Muller U (2007) A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci 27:2163-2173
50. PS Steyger M Burton JR Hawkins NR Schuff RA Baird 1997 Calbindin and parvalbumin are early markers of non-mitotically regenerating hair cells in the bullfrog vestibular otolith organs Int J Dev Neurosci 15 417 432 1:CAS:528:DyaK2sXls1OntLw%3D 10.1016/S0736-5748(96)00101-3 9263023 (Pubitemid 27332096)
51. JS Stone EW Rubel 2000 Temporal, spatial, and morphologic features of hair cell regeneration in the avian basilar papilla J Comp Neurol 417 1 16 1:STN:280:DC%2BD3c7is1Ohsw%3D%3D 10.1002/(SICI)1096-9861(20000131)417:1<1:: AID-CNE1>3.0.CO;2-E 10660884 (Pubitemid 30033567)
52. RR Taylor A Forge 2005 Hair cell regeneration in sensory epithelia from the inner ear of a urodele amphibian J Comp Neurol 484 105 120 10.1002/cne.20450 15717301 (Pubitemid 40315408)
53. M Tekin D Akcayoz A Incesulu 2005 A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy Am J Med Genet A 138 6 10 16097006 (Pubitemid 41262636)
54. R Varga PM Kelley BJ Keats A Starr SM Leal E Cohn WJ Kimberling 2003 Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene J Med Genet 40 45 50 1:CAS:528:DC%2BD3sXht1ymtrk%3D 10.1136/jmg.40.1.45 12525542 (Pubitemid 36115125)
55. R Varga MR Avenarius PM Kelley BJ Keats CI Berlin LJ Hood TG Morlet SM Brashears A Starr ES Cohn RJ Smith WJ Kimberling 2006 OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele J Med Genet 43 576 581 1:CAS:528: DC%2BD28XotFartbc%3D 10.1136/jmg.2005.038612 16371502 (Pubitemid 44048764)
56. ME Warchol JD Speck 2007 Expression of GATA3 and tenascin in the avian vestibular maculae: normative patterns and changes during sensory regeneration J Comp Neurol 500 646 657 1:CAS:528:DC%2BD2sXhtVWhtrc%3D 10.1002/cne.21153 17154269 (Pubitemid 46067780)
57. S Yasunaga M Grati M Cohen-Salmon A El-Amraoui M Mustapha N Salem E El-Zir J Loiselet C Petit 1999 A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness Nat Genet 21 363 369 1:CAS:528:DyaK1MXitFKrs70%3D 10.1038/7693 10192385 (Pubitemid 29159571)
58. S Yasunaga M Grati S Chardenoux TN Smith TB Friedman AK Lalwani ER Wilcox C Petit 2000 OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9 Am J Hum Genet 67 591 600 1:CAS:528:DC%2BD3cXms1Wgsb0%3D 10.1086/303049 10903124 (Pubitemid 30659590)