Determining how defects in connexin43 cause skeletal disease.
Determining how defects in connexin43 cause skeletal disease.
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DOI：
10.1002/dvg.22349
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发表时间：
2013-02
期刊：
影响因子：
--
通讯作者：
Iovine MK
中科院分区：
文献类型：
--
作者：
Ton QV;Iovine MK
间隙连接通道通过第二信使、离子和代谢物从一个细胞到另一个细胞的交换来介导直接的细胞间通讯。多个人类连接蛋白 (cx) 基因（间隙连接通道的亚基）的突变会扰乱多个组织/器官的发育和功能。特别是，所有脊椎动物模型生物体的骨骼发育都需要 Cx43 的适当功能。重要的是，目前尚不清楚间隙连接细胞间通讯的破坏如何导致发育缺陷。两个小组采取了不同的方法来定义基于 Cx43 的间隙连接通讯下游发生的有形分子变化。在这里，我们回顾了这些确定 Cx43 如何调节与骨骼形态发生相关的下游事件的策略。
Gap junction channels mediate direct cell-cell communication via the exchange of second messengers, ions, and metabolites from one cell to another. Mutations in several human connexin (cx) genes, the subunits of gap junction channels, disturb the development and function of multiple tissues/organs. In particular, appropriate function of Cx43 is required for skeletal development in all vertebrate model organisms. Importantly, it remains largely unclear how disruption of gap junctional intercellular communication causes developmental defects. Two groups have taken distinct approaches towards defining the tangible molecular changes occurring downstream of Cx43-based gap junctional communication. Here, these strategies for determining how Cx43 modulates downstream events relevant to skeletal morphogenesis are reviewed.