Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
J Assoc Res Otolaryngol
2010 Dec 01;114:573-86. doi: 10.1007/s10162-010-0231-6.
Show Gene links
Show Anatomy links
Identification of the hair cell soma-1 antigen, HCS-1, as otoferlin.
Goodyear RJ
,
Legan PK
,
Christiansen JR
,
Xia B
,
Korchagina J
,
Gale JE
,
Warchol ME
,
Corwin JT
,
Richardson GP
.
???displayArticle.abstract???
Hair cells, the mechanosensitive receptor cells of the inner ear, are critical for our senses of hearing and balance. The small number of these receptor cells in the inner ear has impeded the identification and characterization of proteins important for hair cell function. The binding specificity of monoclonal antibodies provides a means for identifying hair cell-specific proteins and isolating them for further study. We have generated a monoclonal antibody, termed hair cell soma-1 (HCS-1), which specifically immunolabels hair cells in at least five vertebrate classes, including sharks and rays, bony fish, amphibians, birds, and mammals. We used HCS-1 to immunoprecipitate the cognate antigen and identified it as otoferlin, a member of the ferlin protein family. Mutations in otoferlin underlie DFNB9, a recessive, nonsyndromic form of prelingual deafness characterized as an auditory neuropathy. Using immunocytochemistry, we find that otoferlin is associated with the entire basolateral membrane of the hair cells and with vesicular structures distributed throughout most of the hair cell cytoplasm. Biochemical assays indicate that otoferlin is tightly associated with membranes, as it is not solubilized by alterations in calcium or salt concentrations. HCS-1 immunolabeling does not co-localize with ribeye, a constituent of synaptic ribbons, suggesting that otoferlin may, in addition to its proposed function in synaptic vesicle release, play additional roles in hair cells.
,
,
Pubmed
Ahmed,
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.
2006,
Pubmed
Bansal,
Dysferlin and the plasma membrane repair in muscular dystrophy.
2004,
Pubmed
Bartolami,
Appearance and distribution of the 275 kD hair-cell antigen during development of the avian inner ear.
1991,
Pubmed
Beurg,
Calcium- and otoferlin-dependent exocytosis by immature outer hair cells.
2008,
Pubmed
Bird,
Supporting cells eliminate dying sensory hair cells to maintain epithelial integrity in the avian inner ear.
2010,
Pubmed
Blasiole,
Separate Na,K-ATPase genes are required for otolith formation and semicircular canal development in zebrafish.
2006,
Pubmed
Brandt,
Thyroid hormone deficiency affects postnatal spiking activity and expression of Ca2+ and K+ channels in rodent inner hair cells.
2007,
Pubmed
Bricaud,
The transcription factor six1 inhibits neuronal and promotes hair cell fate in the developing zebrafish (Danio rerio) inner ear.
2006,
Pubmed
Cho,
Membrane binding and subcellular targeting of C2 domains.
2006,
Pubmed
Choi,
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
2009,
Pubmed
Daudet,
Two contrasting roles for Notch activity in chick inner ear development: specification of prosensory patches and lateral inhibition of hair-cell differentiation.
2005,
Pubmed
Dumont,
Plasma membrane Ca2+-ATPase isoform 2a is the PMCA of hair bundles.
2001,
Pubmed
Ebermann,
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
2007,
Pubmed
Forlano,
Distribution of estrogen receptor alpha mRNA in the brain and inner ear of a vocal fish with comparisons to sites of aromatase expression.
2005,
Pubmed
Gale,
Survival of bundleless hair cells and subsequent bundle replacement in the bullfrog's saccule.
2002,
Pubmed
Gale,
Solitary hair cells are distributed throughout the extramacular epithelium in the bullfrog's saccule.
2000,
Pubmed
Ghysen,
The lateral line microcosmos.
2007,
Pubmed
Girod,
Possible precursors of regenerated hair cells in the avian cochlea following acoustic trauma.
1989,
Pubmed
Goodyear,
The ankle-link antigen: an epitope sensitive to calcium chelation associated with the hair-cell surface and the calycal processes of photoreceptors.
1999,
Pubmed
Goodyear,
Distribution of the 275 kD hair cell antigen and cell surface specialisations on auditory and vestibular hair bundles in the chicken inner ear.
1992,
Pubmed
Goodyear,
Pattern formation in the basilar papilla: evidence for cell rearrangement.
1997,
Pubmed
Goodyear,
A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles.
2003,
Pubmed
Goodyear,
A novel antigen sensitive to calcium chelation that is associated with the tip links and kinocilial links of sensory hair bundles.
2003,
Pubmed
Griffiths,
The mannose 6-phosphate receptor and the biogenesis of lysosomes.
1988,
Pubmed
Heidrych,
Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.
2009,
Pubmed
Hu,
Inner ear hair cells produced in vitro by a mesenchymal-to-epithelial transition.
2007,
Pubmed
Hudspeth,
How the ear's works work.
1989,
Pubmed
Issa,
Characterization of fluo-3 labelling of dense bodies at the hair cell's presynaptic active zone.
1996,
Pubmed
LeMasurier,
Hair-cell mechanotransduction and cochlear amplification.
2005,
Pubmed
Lemmon,
Membrane recognition by phospholipid-binding domains.
2008,
Pubmed
Lenzi,
Synaptic vesicle populations in saccular hair cells reconstructed by electron tomography.
1999,
Pubmed
Longo-Guess,
A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.
2007,
Pubmed
López-Schier,
A two-step mechanism underlies the planar polarization of regenerating sensory hair cells.
2006,
Pubmed
López-Schier,
Supernumerary neuromasts in the posterior lateral line of zebrafish lacking peripheral glia.
2005,
Pubmed
Lumpkin,
Detection of Ca2+ entry through mechanosensitive channels localizes the site of mechanoelectrical transduction in hair cells.
1995,
Pubmed
Ma,
Notch signaling regulates the extent of hair cell regeneration in the zebrafish lateral line.
2008,
Pubmed
McGee,
The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.
2006,
Pubmed
Migliosi,
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
2002,
Pubmed
Mirghomizadeh,
Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
2002,
Pubmed
Molea,
Class III beta-tubulin expression in sensory and nonsensory regions of the developing avian inner ear.
1999,
Pubmed
Ramakrishnan,
Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.
2009,
Pubmed
Richardson,
Identification of a 275-kD protein associated with the apical surfaces of sensory hair cells in the avian inner ear.
1990,
Pubmed
Rodríguez-Ballesteros,
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
2003,
Pubmed
Roux,
Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.
2006,
Pubmed
Schmitz,
RIBEYE, a component of synaptic ribbons: a protein's journey through evolution provides insight into synaptic ribbon function.
2000,
Pubmed
Schug,
Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat.
2006,
Pubmed
Schwander,
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.
2007,
Pubmed
Steyger,
Calbindin and parvalbumin are early markers of non-mitotically regenerating hair cells in the bullfrog vestibular otolith organs.
1997,
Pubmed
Stone,
Temporal, spatial, and morphologic features of hair cell regeneration in the avian basilar papilla.
2000,
Pubmed
Taylor,
Hair cell regeneration in sensory epithelia from the inner ear of a urodele amphibian.
2005,
Pubmed
Tekin,
A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
2005,
Pubmed
Varga,
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
2006,
Pubmed
Varga,
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
2003,
Pubmed
Warchol,
Expression of GATA3 and tenascin in the avian vestibular maculae: normative patterns and changes during sensory regeneration.
2007,
Pubmed
Yasunaga,
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
1999,
Pubmed
Yasunaga,
OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.
2000,
Pubmed
