Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy.
Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy.
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PDZ-LIM结构域Z-Line蛋白的Cypher消融会引起严重的先天性肌病。
DOI：
10.1083/jcb.200107092
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发表时间：
2001-11-12
影响因子：
7.8
通讯作者：
Chen, J
中科院分区：
文献类型：
--
作者：
Zhou, Q;Chu, P H;Huang, C;Cheng, C F;Martone, M E;Knoll, G;Shelton, G D;Evans, S;Chen, J
Cypher是最近出现的蛋白质家族的成员，该蛋白质家族在其NH 2末端含有PDZ结构域，并且在其COOH末端含有一个或三个LIM结构域。Cypher基因敲除小鼠表现出严重的先天性肌病，并在出生后死于多个横纹肌的功能衰竭。对突变体横纹肌的检查显示，Cypher不是肌角化或Z线组装所需的，而是在肌肉功能期间维持Z线所需的。体外研究表明，Cypher中的单个结构域通过与α-辅肌动蛋白或其他Z线组分相互作用独立地定位于Z线。这些结果表明，Cypher功能作为一个连接器支柱，以维持细胞骨架结构在收缩。
Cypher is a member of a recently emerging family of proteins containing a PDZ domain at their NH2 terminus and one or three LIM domains at their COOH terminus. Cypher knockout mice display a severe form of congenital myopathy and die postnatally from functional failure in multiple striated muscles. Examination of striated muscle from the mutants revealed that Cypher is not required for sarcomerogenesis or Z-line assembly, but rather is required for maintenance of the Z-line during muscle function. In vitro studies demonstrated that individual domains within Cypher localize independently to the Z-line via interactions with α-actinin or other Z-line components. These results suggest that Cypher functions as a linker-strut to maintain cytoskeletal structure during contraction.