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

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 p...

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Published inProceedings of the National Academy of Sciences - PNAS Vol. 99; no. 9; pp. 6240 - 6245
Main Authors Zwaenepoel, Ingrid, Mustapha, Mirna, Leibovici, Michel, Verpy, Elisabeth, Goodyear, Richard, Liu, Xue Zhong, Nouaille, Sylvie, Nance, Walter E., Kanaan, Moien, Avraham, Karen B., Tekaia, Fredj, Loiselet, Jacques, Lathrop, Marc, Richardson, Guy, Petit, Christine
Format Journal Article
LanguageEnglish
Published United States National Academy of Sciences 30.04.2002
National Acad Sciences
The National Academy of Sciences
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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.
AbstractList 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.
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.
Author Zwaenepoel, Ingrid
Richardson, Guy
Petit, Christine
Nouaille, Sylvie
Loiselet, Jacques
Goodyear, Richard
Nance, Walter E.
Tekaia, Fredj
Avraham, Karen B.
Verpy, Elisabeth
Leibovici, Michel
Lathrop, Marc
Liu, Xue Zhong
Kanaan, Moien
Mustapha, Mirna
AuthorAffiliation Unité de Génétique des Déficits Sensoriels, Centre National de la Recherche Scientifique, Unité de Recherche Associée 1968, and Unité de Génétique Moléculaire des Levures, Centre National de la Recherche Scientifique, Unité de Recherche Associée 2171, Institut Pasteur, 25 rue du Dr. Roux, 75724 Paris Cedex 15, France; † School of Biological Sciences, The University of Sussex, Falmer, Brighton, BN1 9QG, United Kingdom; ‡ Department of Otolaryngology, University of Miami, Miami, FL 33101; § Department of Human Genetics, Virginia Commonwealth University, 1101 East Marshall Street, Richmond, VA 23219; ¶ Molecular Genetics, Life Science Department, Bethlehem University POB 9, Palestinian Authority; ‖ Department of Human Genetics and Molecular Medicine, Tel Aviv University, Tel Aviv 69978, Israel; ‡‡ Laboratoire de Biologie Moléculaire, Faculté de Médecine, Université Saint-Joseph, Beyrouth, Lebanon; and †† Centre National de Génotypage, 91057 Evry, France
AuthorAffiliation_xml – name: Unité de Génétique des Déficits Sensoriels, Centre National de la Recherche Scientifique, Unité de Recherche Associée 1968, and Unité de Génétique Moléculaire des Levures, Centre National de la Recherche Scientifique, Unité de Recherche Associée 2171, Institut Pasteur, 25 rue du Dr. Roux, 75724 Paris Cedex 15, France; † School of Biological Sciences, The University of Sussex, Falmer, Brighton, BN1 9QG, United Kingdom; ‡ Department of Otolaryngology, University of Miami, Miami, FL 33101; § Department of Human Genetics, Virginia Commonwealth University, 1101 East Marshall Street, Richmond, VA 23219; ¶ Molecular Genetics, Life Science Department, Bethlehem University POB 9, Palestinian Authority; ‖ Department of Human Genetics and Molecular Medicine, Tel Aviv University, Tel Aviv 69978, Israel; ‡‡ Laboratoire de Biologie Moléculaire, Faculté de Médecine, Université Saint-Joseph, Beyrouth, Lebanon; and †† Centre National de Génotypage, 91057 Evry, France
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SSID ssj0009580
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Snippet 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...
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StartPage 6240
SubjectTerms Amino Acid Sequence
Animals
Biological Sciences
Cloning, Molecular
Cochlea
Complementary DNA
Deafness
DFNB22 gene
DNA Mutational Analysis
DNA, Complementary - metabolism
Ear, Inner - metabolism
Epithelial cells
Epithelium - metabolism
Exons
Female
Gels
Genetic Linkage
Genetic mutation
Genetics
Genotype
GPI-Linked Proteins
Hearing Disorders - genetics
Humans
Inner ear
Inner hair cells
Life Sciences
Male
membrane anchors
Membrane Proteins - biosynthesis
Membrane Proteins - physiology
Mesothelin
Mice
Microscopy, Electron
Microscopy, Fluorescence
Molecular Sequence Data
Mutation
OTOA gene
otoancorin
Outer hair cells
Pedigree
Reverse Transcriptase Polymerase Chain Reaction
Sequence Homology, Amino Acid
Tissue Distribution
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
URI https://www.jstor.org/stable/3058656
http://www.pnas.org/content/99/9/6240.abstract
https://www.ncbi.nlm.nih.gov/pubmed/11972037
https://search.proquest.com/docview/18323944
https://hal.science/hal-04267037
https://pubmed.ncbi.nlm.nih.gov/PMC122933
Volume 99
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