Human diseases: clues to cracking the connexin code?
Human diseases: clues to cracking the connexin code?
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DOI：
10.1016/s0962-8924(00)01866-3
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发表时间：
2001-01-01
影响因子：
19
通讯作者：
Hodgins, MB
中科院分区：
文献类型：
--
作者：
Kelsell, DP;Dunlop, J;Hodgins, MB
由跨膜蛋白的连接蛋白家族形成的脊椎动物间隙连接在1993年引起了遗传学家的注意，并鉴定了与脱髓鞘神经病形式相关的突变。此外，不同的疾病可能是由同一连接蛋白基因的不同突变引起的。此外，特定的连接蛋白敲除小鼠具有令人惊讶的表型。这导致细胞生物学家重新审视连接蛋白及其通过间隙连接参与细胞间通讯，这一过程似乎是协调组织内细胞功能的核心。在这里，我们评论遗传学研究是如何给缝隙连接的细胞生物学带来新的动力。
The vertebrate gap junctions formed by the connexin family of transmembrane proteins came to the attention of geneticists in 1993 with the identification of mutations linked to a form of demyelinating neuropathy Since then, several other genetic disorders have been linked to mutations in specific connexin genes. Also, different diseases can result from different mutations in the same connexin gene. In addition, specific connexin knockout mice have surprising phenotypes. This is leading cell biologists to look afresh at connexins and their involvement in intercellular communication through gap junctions, a process that seems central to coordinating cell function within tissues. Here, we comment on how genetic studies are giving a new impetus to the cell biology of gap junctions.