Duplication of the dystroglycan gene in most branches of teleost fish

dc.contributor.authorPavoni, Ernesto
dc.contributor.authorCacchiarelli, Davide
dc.contributor.authorTittarelli, Roberta
dc.contributor.authorOrsini, Massimiliano
dc.contributor.authorGaltieri, Antonio
dc.contributor.authorGiardina, Bruno
dc.contributor.authorBrancaccio, Andrea
dc.date.accessioned2014-01-15T10:51:20Z
dc.date.available2014-01-15T10:51:20Z
dc.date.issued2007-05-17
dc.description.abstractThe dystroglycan (DG) complex is a major non-integrin cell adhesion system whose multiple biological roles involve, among others, skeletal muscle stability, embryonic development and synapse maturation. DG is composed of two subunits: alpha-DG, extracellular and highly glycosylated, and the transmembrane beta-DG, linking the cytoskeleton to the surrounding basement membrane in a wide variety of tissues. A single copy of the DG gene (DAG1) has been identified so far in humans and other mammals, encoding for a precursor protein which is post-translationally cleaved to liberate the two DG subunits. Similarly, D. rerio (zebrafish) seems to have a single copy of DAG1, whose removal was shown to cause a severe dystrophic phenotype in adult animals, although it is known that during evolution, due to a whole genome duplication (WGD) event, many teleost fish acquired multiple copies of several genes (paralogues). RESULTS: Data mining of pufferfish (T. nigroviridis and T. rubripes) and other teleost fish (O. latipes and G. aculeatus) available nucleotide sequences revealed the presence of two functional paralogous DG sequences. RT-PCR analysis proved that both the DG sequences are transcribed in T. nigroviridis. One of the two DG sequences harbours an additional mini-intronic sequence, 137 bp long, interrupting the uncomplicated exon-intron-exon pattern displayed by DAG1 in mammals and D. rerio. A similar scenario emerged also in D. labrax (sea bass), from whose genome we have cloned and sequenced a new DG sequence that also harbours a shorter additional intronic sequence of 116 bp. Western blot analysis confirmed the presence of DG protein products in all the species analysed including two teleost Antarctic species (T. bernacchii and C. hamatus). CONCLUSION: Our evolutionary analysis has shown that the whole-genome duplication event in the Class Actinopterygii (ray-finned fish) involved also DAG1. We unravelled new important molecular genetic details about fish orthologous DGs, which might help to increase the current knowledge on DG expression, maturation and targeting and on its physiopathological role in higher organisms.IT
dc.description.statusPubblicatoIT
dc.identifier.doi10.1186/1471-2199-8-34IT
dc.identifier.issn1471-2199
dc.identifier.urihttp://hdl.handle.net/11050/612
dc.language.isoenIT
dc.publisherBioMed CentralIT
dc.relation.ispartofBMC Molecular BiologyIT
dc.relation.ispartofseries8;34
dc.rightsAttribuzione - Non commerciale - Non opere derivate 3.0 Italia*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/it/*
dc.subjectamino acid sequenceIT
dc.subjectgene dosageIT
dc.subjectgene duplicationIT
dc.subjectmolecular sequence dataIT
dc.subjectexonsIT
dc.subjectintronsIT
dc.subjectdystroglycan geneIT
dc.subjectteleost fishIT
dc.subject.een-cordisEEN CORDIS::SCIENZE BIOLOGICHE ::Ricerca sul genoma ::BioinformaticaIT
dc.subject.programProgram::Biomedicine::Bioinformatics (BI)IT
dc.titleDuplication of the dystroglycan gene in most branches of teleost fishIT
dc.typeArticoloIT
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