Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia
Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia
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DOI：
10.1016/j.bbrc.2007.12.126
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发表时间：
2008-02-29
影响因子：
3.1
通讯作者：
Yamakawa, Kazuhiro
中科院分区：
文献类型：
--
作者：
Suzuki, Toshimitsu;Inoue, Ikuyo;Yamakawa, Kazuhiro
EFHC1是一种在特发性癫痫患者中发生突变的基因，编码肌阵挛蛋白1。本文报道了肌阵挛蛋白1在小鼠体内的分布。免疫组织化学分析显示，肌阵挛蛋白1在胚胎第10天(E10)开始出现在后脑顶部，并在第14天进入脉络丛。胎龄18岁时，移行至室壁，从脉络丛消失。从新生期到成年期，肌阵挛蛋白1主要集中在室壁室管膜细胞的纤毛中。成虫期，在肺的气管上皮纤毛和睾丸的精子鞭毛中也观察到了myoclonin1的表达。以Efhc1基因缺陷小鼠作为阴性对照，验证了这些免疫组织化学信号的特异性。Efhc1mRNA原位杂交结果也与免疫组织化学结果一致。我们的发现将“脉络膜神经丛病变”或“纤毛病变”作为由EFHC1突变引起的癫痫的分子病理学有趣的候选级联反应。(C)2007 Elsevier Inc.保留所有权利。
EFHC1 is a gene mutated in patients with idiopathic epilepsies, and encodes the myoclonin1 protein. We here report the distribution of myoclonin1 in mouse. Immunohistochemical analyses revealed that the myoclonin1 first appeared at the roof of hindbrain at embryonic day 10 (E10), and moved on to choroid plexus at E14. At E18, it moved to ventricle walls and disappeared from choroid plexus. From neonatal to adult stages, myoclonin1 was concentrated in the cilia of ependymal cells at ventricle walls. At adult stages, myoclonin1 expression was also observed at tracheal epithelial cilia in lung and at sperm flagella in testis. Specificities of these immunohistochemical signals were verified by using Efhc1-deficient mice as negative controls. Results of Efhc1 mRNA in situ hybridization were also consistent with the inummohistochemical observations. Our findings raise "choroid plexusopathy" or "ciliopathy" as intriguing candidate cascades for the molecular pathology of epilepsies caused by the EFHC1 mutations. (C) 2007 Elsevier Inc. All rights reserved.