title: Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.
abstract: A 3,673-bp murine cDNA predicted to encode a glycosylphosphatidylinositol-anchored protein of 1,088 amino acids was isolated during a study aimed at identifying transcripts specifically expressed in the inner ear. This inner ear-specific protein, otoancorin, shares weak homology with megakaryocyte potentiating factor/mesothelin precursor. Otoancorin is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. In the cochlea, otoancorin is detected at two attachment zones of the tectorial membrane, a permanent one along the top of the spiral limbus and a transient one on the surface of the developing greater epithelial ridge. In the vestibule, otoancorin is present on the apical surface of nonsensory cells, where they contact the otoconial membranes and cupulae. The identification of the mutation (IVS12+2T>C) in the corresponding gene OTOA in one consanguineous Palestinian family affected by nonsyndromic recessive deafness DFNB22 assigns an essential function to otoancorin. We propose that otoancorin ensures the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells.
authors.affiliation: Unité de Génétique des Déficits Sensoriels, Centre National de la Recherche Scientifique, Paris Cedex 15, France.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Zwaenepoel
authors.forename: Mirna
authors.initials: M
authors.lastname: Mustapha
authors.forename: Michel
authors.initials: M
authors.lastname: Leibovici
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Verpy
authors.forename: Richard
authors.initials: R
authors.lastname: Goodyear
authors.forename: Xue Zhong
authors.initials: XZ
authors.lastname: Liu
authors.forename: Sylvie
authors.initials: S
authors.lastname: Nouaille
authors.forename: Walter E
authors.initials: WE
authors.lastname: Nance
authors.forename: Moien
authors.initials: M
authors.lastname: Kanaan
authors.forename: Karen B
authors.initials: KB
authors.lastname: Avraham
authors.forename: Fredj
authors.initials: F
authors.lastname: Tekaia
authors.forename: Jacques
authors.initials: J
authors.lastname: Loiselet
authors.forename: Marc
authors.initials: M
authors.lastname: Lathrop
authors.forename: Guy
authors.initials: G
authors.lastname: Richardson
authors.forename: Christine
authors.initials: C
authors.lastname: Petit
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000378:metabolism; D007758:Ear, Inner / Q000378:metabolism*; D004848:Epithelium / Q000378:metabolism*; D005091:Exons; D005260:Female; D058851:GPI-Linked Proteins; D008040:Genetic Linkage; D005838:Genotype; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000096:biosynthesis* / Q000502:physiology*; D000090204:Mesothelin; D051379:Mice; D008854:Microscopy, Electron; D008856:Microscopy, Fluorescence; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: D018076:DNA, Complementary; D058851:GPI-Linked Proteins; C000715527:MSLN protein, human; D008565:Membrane Proteins; C000715528:Msln protein, mouse; C456027:OTOA protein, human; C486746:Otoa protein, mouse; D000090204:Mesothelin