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

• Published in: Proceedings 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
• Language: English
• Published: United States National Academy of Sciences 30.04.2002; National Acad Sciences; The National Academy of Sciences
• Subjects: 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; Israel, Palestine

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...