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Article: Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens

TitleHigher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens
Authors
Issue Date1997
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 1997, v. 6 n. 12, p. 2099-2107 How to Cite?
AbstractThe 5-thymidine (5T) variant of the cystic fibrosis transmembrane conductance regulator (CFTR) intron 8 polypyrimidine tract (IVS8-T tract) is the most frequent CFTR gene alteration identified in men with congenital bilateral absence of vas deferens (CBAVD). This alternative splicing variant gives rise to two transcripts, one normal with exon 9 intact and the other with in-frame deletion of exon 9. That CBAVD men usually have none of the other clinical signs of classical cystic fibrosis (CF) suggests less functional CFTR is produced in the reproductive tract than in other CF-associated organs. Nasal epithelia and segments of vas deferens were obtained from healthy, previously vasectomized men who presented for vasectomy reversal. Quantitative RT-PCR was performed on these specimens, with the region of CFTR cDNA spanning exon 9 amplified. For both nasal and vasal tissues, a strong positive correlation was found between the length of the IVS8-T tract and the proportion of mRNA with exon 9 intact. In addition, within the same subject, a significantly higher level of transcripts lacking exon 9 was found in vas deferens than nasal epithelia, regardless of the IVS8-T genotype. These findings suggest that the splicing of CFTR precursor mRNA is less efficient in vasal epithelia compared with respiratory epithelia. Thus, differential splicing efficiency between the various tissues which express CFTR provides one possible explanation for the reproductive tract abnormalities observed in infertile men with CFTR gene alterations but without other clinical manifestations of CF.
Persistent Identifierhttp://hdl.handle.net/10722/44326
ISSN
2015 Impact Factor: 5.985
2015 SCImago Journal Rankings: 4.288
Other Identifiers
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMak, Ven_HK
dc.contributor.authorJarvi, KAen_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorDurie, Pen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:51:27Z-
dc.date.available2007-09-12T03:51:27Z-
dc.date.issued1997en_HK
dc.identifierhttp://hmg.oxfordjournals.org/cgi/reprint/6/12/2099en_HK
dc.identifier.citationHuman Molecular Genetics, 1997, v. 6 n. 12, p. 2099-2107en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44326-
dc.description.abstractThe 5-thymidine (5T) variant of the cystic fibrosis transmembrane conductance regulator (CFTR) intron 8 polypyrimidine tract (IVS8-T tract) is the most frequent CFTR gene alteration identified in men with congenital bilateral absence of vas deferens (CBAVD). This alternative splicing variant gives rise to two transcripts, one normal with exon 9 intact and the other with in-frame deletion of exon 9. That CBAVD men usually have none of the other clinical signs of classical cystic fibrosis (CF) suggests less functional CFTR is produced in the reproductive tract than in other CF-associated organs. Nasal epithelia and segments of vas deferens were obtained from healthy, previously vasectomized men who presented for vasectomy reversal. Quantitative RT-PCR was performed on these specimens, with the region of CFTR cDNA spanning exon 9 amplified. For both nasal and vasal tissues, a strong positive correlation was found between the length of the IVS8-T tract and the proportion of mRNA with exon 9 intact. In addition, within the same subject, a significantly higher level of transcripts lacking exon 9 was found in vas deferens than nasal epithelia, regardless of the IVS8-T genotype. These findings suggest that the splicing of CFTR precursor mRNA is less efficient in vasal epithelia compared with respiratory epithelia. Thus, differential splicing efficiency between the various tissues which express CFTR provides one possible explanation for the reproductive tract abnormalities observed in infertile men with CFTR gene alterations but without other clinical manifestations of CF.en_HK
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Molecular Geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulator - analysis - geneticsen_HK
dc.subject.meshExonsen_HK
dc.subject.meshEpithelium - chemistryen_HK
dc.subject.meshNasal mucosa - chemistryen_HK
dc.subject.meshRna, messenger - analysisen_HK
dc.titleHigher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferensen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltexten_HK
dc.identifier.doi10.1093/hmg/6.12.2099en_HK
dc.identifier.pmid9328474-
dc.identifier.scopuseid_2-s2.0-0030687683en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030687683&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume6en_HK
dc.identifier.issue12en_HK
dc.identifier.spage2099en_HK
dc.identifier.epage2107en_HK
dc.identifier.isiWOS:A1997YF21200013-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridMak, V=7003466815en_HK
dc.identifier.scopusauthoridJarvi, KA=23392788300en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridDurie, P=7005360997en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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