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Article: Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X

TitleExon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X
Authors
Issue Date2007
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal Of Medical Genetics, 2007, v. 44 n. 5, p. 341-346 How to Cite?
Abstract
Nonsense mutations that occur more than 50 bases upstream of terminal spliced junctions are generally thought to lead to degradation of the corresponding transcripts by the process of nonsense-mediated mRNA decay. It has also been proposed that some nonsense mutations may affect splicing by the process of nonsense-associated altered splicing (NAS), or by the disruption of a splicing regulatory element. In this study, the effect of the R553X mutation on the splicing of exon 11 of the cystic fibrosis transmembrane conductance regulator gene was investigated. Evidence that R553X causes exon 11 to skip through the creation of a putative exonic splicing silencer (ESS) was provided. The putative ESS appears to be active when located immediately upstream of a 5′ splice site. These findings argue against the possibility that R553X-associated exon 11 skipping is caused by NAS. The study further suggests that aminoglycoside antibiotic treatment would not be effective for patients with the R553X mutation, owing to the skipping of exon 11, and further emphasises the need for detailed mechanistic characterisation of the consequences of nonsense disease mutations.
Persistent Identifierhttp://hdl.handle.net/10722/143112
ISSN
2013 Impact Factor: 5.636
PubMed Central ID
ISI Accession Number ID
References

 

Author Affiliations
  1. The University of Hong Kong
  2. University of Toronto
  3. Hospital for Sick Children University of Toronto
DC FieldValueLanguage
dc.contributor.authorAznarez, Ien_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorRommens, JMen_HK
dc.contributor.authorBlencowe, BJen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2011-11-01T04:09:22Z-
dc.date.available2011-11-01T04:09:22Z-
dc.date.issued2007en_HK
dc.identifier.citationJournal Of Medical Genetics, 2007, v. 44 n. 5, p. 341-346en_HK
dc.identifier.issn0022-2593en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143112-
dc.description.abstractNonsense mutations that occur more than 50 bases upstream of terminal spliced junctions are generally thought to lead to degradation of the corresponding transcripts by the process of nonsense-mediated mRNA decay. It has also been proposed that some nonsense mutations may affect splicing by the process of nonsense-associated altered splicing (NAS), or by the disruption of a splicing regulatory element. In this study, the effect of the R553X mutation on the splicing of exon 11 of the cystic fibrosis transmembrane conductance regulator gene was investigated. Evidence that R553X causes exon 11 to skip through the creation of a putative exonic splicing silencer (ESS) was provided. The putative ESS appears to be active when located immediately upstream of a 5′ splice site. These findings argue against the possibility that R553X-associated exon 11 skipping is caused by NAS. The study further suggests that aminoglycoside antibiotic treatment would not be effective for patients with the R553X mutation, owing to the skipping of exon 11, and further emphasises the need for detailed mechanistic characterisation of the consequences of nonsense disease mutations.en_HK
dc.languageeng-
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/en_HK
dc.relation.ispartofJournal of Medical Geneticsen_HK
dc.rightsJournal of Medical Genetics. Copyright © BMJ Group.-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshAlternative Splicing - genetics-
dc.subject.meshArginine - genetics-
dc.subject.meshCystic Fibrosis - genetics-
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator - genetics-
dc.subject.meshExons - genetics-
dc.titleExon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553Xen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-2593&volume=44&issue=5&spage=341&epage=346&date=2007&atitle=Exon+skipping+through+the+creation+of+a+putative+exonic+splicing+silencer+as+a+consequence+of+the+cystic+fibrosis+mutation+R553X-
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1136/jmg.2006.045880en_HK
dc.identifier.pmid17475917en_HK
dc.identifier.pmcidPMC2597982-
dc.identifier.scopuseid_2-s2.0-34248368508en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-34248368508&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume44en_HK
dc.identifier.issue5en_HK
dc.identifier.spage341en_HK
dc.identifier.epage346en_HK
dc.identifier.isiWOS:000246177200008-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridAznarez, I=6506570199en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridRommens, JM=7006884140en_HK
dc.identifier.scopusauthoridBlencowe, BJ=7003332002en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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