Structural and functional diversity of connexin genes in the mouse and human genome

被引：946

作者：

Willecke, K ^{[1
]}

Eiberger, J

Degen, J

Eckardt, D

Romualdi, A

Güldenagel, M

Deutsch, U

Söhl, G

机构：

[1] Univ Bonn, Inst Genet, Abt Mol Genet, D-53117 Bonn, Germany

[2] Max Planck Inst Physiol & Clin Res, D-61231 Bad Nauheim, Germany

[3] Max Planck Inst G, D-48149 Munster, Germany

来源：

BIOLOGICAL CHEMISTRY | 2002年 / 383卷 / 05期

关键词：

alternative splicing; connexin-deficient mice; human connexin genes; human connexin mutants; mouse connexin genes;

D O I：

10.1515/BC.2002.076

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Gap junctions are clustered channels between contacting cells through which direct intercellular communication via diffusion of ions and metabolites can occur. Two hemichannels, each built up of six connexin protein subunits in the plasma membrane of adjacent cells, can dock to each other to form conduits between cells. We have recently screened mouse and human genomic data bases and have found 19 connexin (Cx) genes in the mouse genome and 20 connexin genes in the human genome. One mouse connexin gene and two human connexin genes do not appear to have orthologs in the other genome. With three exceptions, the characterized connexin genes comprise two exons whereby the complete reading frame is located on the second exon. Targeted ablation of eleven mouse connexin genes revealed basic insights into the functional diversity of the connexin gene family. In addition, the phenotypes of human genetic disorders caused by mutated connexin genes further complement our understanding of connexin functions in the human organism. In this review we compare currently identified connexin genes in both the mouse and human genome and discuss the functions of gap junctions deduced from targeted mouse mutants and human genetic disorders.

引用

页码：725 / 737

页数：13

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