Journal ArticleDOI
Structural and functional diversity of connexin genes in the mouse and human genome
Klaus Willecke,Jürgen Eiberger,Joachim Degen,Dominik Eckardt,Alessandro Romualdi,Martin Güldenagel,Urban Deutsch,Goran Söhl +7 more
Reads0
Chats0
TLDR
This review compares currently identified connexin genes in both the mouse and human genome and discusses the functions of gap junctions deduced from targeted mouse mutants and human genetic disorders.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.read more
Citations
More filters
Journal ArticleDOI
Plasma Membrane Channels Formed by Connexins: Their Regulation and Functions
TL;DR: The physiological role of gap junctions in several tissues has been elucidated by the discovery of mutant connexins associated with genetic diseases and by the generation of mice with targeted ablation of specific connexin genes.
Journal ArticleDOI
Basic Mechanisms of Cardiac Impulse Propagation and Associated Arrhythmias
André G. Kléber,Yoram Rudy +1 more
TL;DR: This review attempts to synthesize results from computer simulations and experimental preparations to define mechanisms and biophysical principles that govern normal and abnormal conduction in the heart.
Journal ArticleDOI
Gap junctions and the connexin protein family
Goran Söhl,Klaus Willecke +1 more
TL;DR: Functional properties, like permeabilities, charge selectivity and unitary conductivity were investigated after directed expression of these connexins in cultured cell lines or paired Xenopus oocytes and targeted deletion of their coding sequence in the mouse genome allowed study of the biological relevance of Cx37, CX40, Cx43 and Cx45 with regard to cardiovascular morphology and function.
Journal ArticleDOI
Electrical Coupling and Neuronal Synchronization in the Mammalian Brain
TL;DR: The many subtleties of transmission mediated by gap junctions and the mechanisms whereby these junctions contribute to synchronous firing are reviewed.
Journal ArticleDOI
Electrical synapses in the mammalian brain.
Barry W. Connors,Michael A. Long +1 more
TL;DR: Electrical synapses are a ubiquitous yet underappreciated feature of neural circuits in the mammalian brain and may be electrically coupled by other connexin types or by pannexins, a newly described family of gap junction proteins.
References
More filters
Journal ArticleDOI
The scanning model for translation: an update.
TL;DR: The small (40S) subunit of eukaryotic ribosomes is believed to bind initially at the capped 5'-end of messenger RNA and then migrate, stopping at the first AUG codon in a favorable context for initiating translation.
Journal ArticleDOI
The Gap Junction Communication Channel
Nalin M. Kumar,Norton B. Gilula +1 more
TL;DR: Owing to restrictions on the number of references, selected original articles and reviews are cited but those whose work could not be recognized owing to a space limitation are sorry.
Journal ArticleDOI
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
David P. Kelsell,Dunlop J,Howard P. Stevens,Nicholas Lench,Liang Jn,Gareth Parry,Robert F. Mueller,Irene M. Leigh +7 more
TL;DR: To the authors' knowledge, this is the first nonsyndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea.
Journal ArticleDOI
Cardiac malformation in neonatal mice lacking connexin43
Andrew G. Reaume,P.A. De Sousa,P.A. De Sousa,S. Kulkarni,B. L. Langille,Daguang Zhu,Tyler C. Davies,Subhash C. Juneja,Gerald M. Kidder,Janet Rossant,Janet Rossant +10 more
TL;DR: Targeted mutagenesis of connexin43 (Cx43) showed that its absence was compatible with survival of mouse embryos to term, even though mutant cell lines showed reduced dye coupling in vitro, which suggests that Cx43 plays an essential role in heart development but that there is functional compensation among connexins in other parts of the developing fetus.
Journal ArticleDOI
Connexin43: a protein from rat heart homologous to a gap junction protein from liver.
TL;DR: A nomenclature is proposed which avoids categorization by organ of origin and indicates that the conserved sequences correspond to transmembrane and extracellular regions of the junctional molecules, while the nonconserved sequences correspondto cytoplasmic regions.