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遗传疾病和基因敲除揭示了连接蛋白的多种功能。

Genetic diseases and gene knockouts reveal diverse connexin functions.

作者信息

White T W, Paul D L

机构信息

Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.

出版信息

Annu Rev Physiol. 1999;61:283-310. doi: 10.1146/annurev.physiol.61.1.283.

Abstract

Intercellular channels present in gap junctions allow cells to share small molecules and thus coordinate a wide range of behaviors. Remarkably, although junctions provide similar functions in all multicellular organisms, vertebrates and invertebrates use unrelated gene families to encode these channels. The recent identification of the invertebrate innexin family opens up powerful genetic systems to studies of intercellular communication. At the same time, new information on the physiological roles of vertebrate connexins has emerged from genetic studies. Mutations in connexin genes underlie a variety of human diseases, including deafness, demyelinating neuropathies, and lens cataracts. In addition, gene targeting of connexins in mice has provided new insights into connexin function and the significance of connexin diversity.

摘要

存在于间隙连接中的细胞间通道允许细胞共享小分子,从而协调多种行为。值得注意的是,尽管这些连接在所有多细胞生物中都具有相似的功能,但脊椎动物和无脊椎动物使用不相关的基因家族来编码这些通道。最近对无脊椎动物连接蛋白家族的鉴定为细胞间通讯的研究开辟了强大的遗传系统。与此同时,遗传研究也带来了关于脊椎动物连接蛋白生理作用的新信息。连接蛋白基因突变是多种人类疾病的基础,包括耳聋、脱髓鞘性神经病和晶状体白内障。此外,对小鼠连接蛋白进行基因靶向研究,为连接蛋白的功能以及连接蛋白多样性的意义提供了新的见解。

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