title: Structural and functional diversity of connexin genes in the mouse and human genome.
abstract: 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.
authors.affiliation: Institut für Genetik, Abteilung Molekulargenetik, Universität Bonn, Germany.
authors.forename: Klaus
authors.initials: K
authors.lastname: Willecke
authors.forename: Jürgen
authors.initials: J
authors.lastname: Eiberger
authors.forename: Joachim
authors.initials: J
authors.lastname: Degen
authors.forename: Dominik
authors.initials: D
authors.lastname: Eckardt
authors.forename: Alessandro
authors.initials: A
authors.lastname: Romualdi
authors.forename: Martin
authors.initials: M
authors.lastname: Güldenagel
authors.forename: Urban
authors.initials: U
authors.lastname: Deutsch
authors.forename: Goran
authors.initials: G
authors.lastname: Söhl
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D017630:Connexins / Q000235:genetics* / Q000502:physiology; D016368:Frameshift Mutation; D017629:Gap Junctions / Q000502:physiology*; D015870:Gene Expression; D018390:Gene Targeting; D030342:Genetic Diseases, Inborn / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic
chemical_list: D017630:Connexins