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

Willecke, K; Eiberger, J; Degen, J; Eckardt, D; Romualdi, A; Güldenagel, M; Deutsch, U; Söhl, G (2002). Structural and functional diversity of connexin genes in the mouse and human genome. Biological chemistry, 5(383), pp. 725-37. Berlin: De Gruyter 10.1515/BC.2002.076

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > Theodor Kocher Institute

UniBE Contributor:

Deutsch, Urban

ISSN:

1431-6730

ISBN:

12108537

Publisher:

De Gruyter

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:52

Last Modified:

07 Nov 2014 07:59

Publisher DOI:

10.1515/BC.2002.076

PubMed ID:

12108537

Web of Science ID:

000176382200002

URI:

https://boris.unibe.ch/id/eprint/22220 (FactScience: 32294)

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