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Unconstrained mining of transcript data reveals increased alternative splicing complexity in the human transcriptome

dc.contributor.authorMollet, I. G.
dc.contributor.authorBen-Dov, Claudia
dc.contributor.authorFelício-Silva, Daniel
dc.contributor.authorGrosso, A. R.
dc.contributor.authorEleutério, Pedro
dc.contributor.authorAlves, Ruben
dc.contributor.authorStaller, Ray
dc.contributor.authorSilva, Tito Santos
dc.contributor.authorCarmo-Fonseca, Maria
dc.date.accessioned2022-09-02T09:36:44Z
dc.date.available2022-09-02T09:36:44Z
dc.date.issued2010
dc.description.abstractMining massive amounts of transcript data for alternative splicing information is paramount to help understand how the maturation of RNA regulates gene expression. We developed an algorithm to cluster transcript data to annotated genes to detect unannotated splice variants. A higher number of alternatively spliced genes and isoforms were found compared to other alternative splicing databases. Comparison of human and mouse data revealed a marked increase, in human, of splice variants incorporating novel exons and retained introns. Previously unannotated exons were validated by tiling array expression data and shown to correspond preferentially to novel first exons. Retained introns were validated by tiling array and deep sequencing data. The majority of retained introns were shorter than 500 nt and had weak polypyrimidine tracts. A subset of retained introns matching small RNAs and displaying a high GC content suggests a possible coordination between splicing regulation and production of noncoding RNAs. Conservation of unannotated exons and retained introns was higher in horse, dog and cow than in rodents, and 64% of exon sequences were only found in primates. This analysis highlights previously bypassed alternative splice variants, which may be crucial to deciphering more complex pathways of gene regulation in human.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.1093/nar/gkq197pt_PT
dc.identifier.eid77955793696
dc.identifier.issn0305-1048
dc.identifier.pmid20385588
dc.identifier.urihttp://hdl.handle.net/10400.14/38681
dc.identifier.wos000280922400025
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.titleUnconstrained mining of transcript data reveals increased alternative splicing complexity in the human transcriptomept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage4754pt_PT
oaire.citation.issue14pt_PT
oaire.citation.startPage4740pt_PT
oaire.citation.titleNucleic Acids Researchpt_PT
oaire.citation.volume38pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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