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
Unité de Génétique des Déficits Sensoriels, Centre National de la Recherche Scientifique, Paris Cedex 15, France.
Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6240-5. doi: 10.1073/pnas.082515999. Epub 2002 Apr 23.
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.
在一项旨在鉴定在内耳中特异性表达的转录本的研究中，分离出了一段3673 bp的小鼠cDNA，预计它编码一种含1088个氨基酸的糖基磷脂酰肌醇锚定蛋白。这种内耳特异性蛋白耳锚蛋白与巨核细胞增强因子/间皮素前体有微弱的同源性。耳锚蛋白位于内耳感觉上皮的顶端表面与其上方的无细胞凝胶之间的界面处。在耳蜗中，耳锚蛋白在盖膜的两个附着区域被检测到，一个是沿着螺旋缘顶部的永久性附着区域，另一个是在发育中的大上皮嵴表面的短暂附着区域。在前庭中，耳锚蛋白存在于非感觉细胞的顶端表面，在那里它们与耳石膜和终帽接触。在一个受非综合征性隐性耳聋DFNB22影响的近亲巴勒斯坦家庭中，在相应基因OTOA中鉴定出突变（IVS12 + 2T>C），这赋予了耳锚蛋白一项基本功能。我们提出，耳锚蛋白确保内耳无细胞凝胶附着于下方非感觉细胞的顶端表面。
