A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.
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Xp22.3 区域的一个基因与电压门控氯离子通道具有同源性。
DOI：
10.1093/hmg/3.4.547
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发表时间：
1994
影响因子：
3.5
通讯作者：
Ballabio,A
中科院分区：
文献类型：
--
作者：
vanSlegtenhorst,MA;Bassi,MT;Borsani,G;Wapenaar,MC;Ferrero,GB;deConciliis,L;Rugarli,EI;Grillo,A;Franco,B;Zoghbi,HY;Ballabio,A
在构建人类Xp22.3基因转录图谱的基础上，我们发现了一个进化上保守的CpG岛，并克隆了相应的基因。由该基因编码的预测的760个氨基酸的蛋白质包含12个疏水结构域，并且与最近鉴定的电压门控氯离子通道家族（“CIC家族”）的所有先前分离的成员具有显著的序列和结构相似性。该基因被称为CICN4（氯化物通道4），在X染色体上包含至少10个外显子，跨度为60至80 kb。与大多数从人Xp22.3区域分离的基因相反，CICN4基因与Y染色体不共享同源性，并且在小鼠和仓鼠中是保守的。表达研究揭示了7.5 kb转录本的存在，其在骨骼肌中特别丰富，并且在脑和心脏中也可检测到。这些数据表明，我们已经确定了一个新的电压门控氯离子通道，它是由位于X染色体远端短臂的基因编码。
In the framework of constructing a comprehensive transcript map of the human Xp22.3 region, we identified an evolutionary conserved CpG Island and cloned the corresponding gene. The predicted 760 amino acid protein encoded by this gene contains 12 hydrophobic domains and shares significant sequence and structural similarities with all the previously isolated members of a recently identified family of voltage-gated chloride channels (the ‘CIC family’). This gene, termed CICN4 (Chloride Channel 4), contains at least 10 exons spanning 60 to 80 kb on the X chromosome. In contrast to most genes Isolated from the human Xp22.3 region, the CICN4 gene does not share homology with the Y chromosome and it is conserved in mouse and hamster. Expression studies revealed the presence of a 7.5 kb transcript which is particularly abundant in skeletal muscle and is also detectable in brain and heart. These data suggest that we have identified a new voltage-gated chloride channel which is encoded by a gene located in the distal short arm of the X chromosome.