Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
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DOI：
10.1086/321277
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发表时间：
2001-07-01
影响因子：
9.8
通讯作者：
Wilcox, ER
中科院分区：
文献类型：
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作者：
Ahmed, ZM;Riazuddin, S;Wilcox, ER
人类染色体10 q21 -22在小鼠染色体10的保守同线性区域中含有USH 1F。小鼠10号染色体的这一区域含有Pcdh 15，编码一种原钙粘蛋白基因，该基因在艾姆斯·沃尔泽身上发生突变，导致耳聋和前庭功能障碍。在这里，我们报告两个突变的原钙粘蛋白15（PCDH 15）中发现的两个家庭隔离Usher综合征1F型。用PCDH 15胞质结构域探测的北方印迹显示在视网膜中表达，与其在与USH 1F相关的视网膜色素变性中的致病作用一致。
Human chromosome 10q21-22 harbors USH1F in a region of conserved synteny to mouse chromosome 10. This region of mouse chromosome 10 contains Pcdh15, encoding a protocadherin gene that is mutated in ames waltzer and causes deafness and vestibular dysfunction. Here we report two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F. A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F.