Article: Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G → T and 711 + 1G → T mutations

File Download Links for fulltext
(May Require Subscription)
Supplementary
  • Basic View
  • Metadata View
  • XML View
TitleAnalysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G → T and 711 + 1G → T mutations
AuthorsZielenski, J1
Bozon, D1
Markiewicz, D1
Aubin, G1
Simard, F1
Rommens, JM1
Tsui, LC1
Issue Date1993
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
CitationHuman Molecular Genetics, 1993, v. 2 n. 6, p. 683-687 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/2.6.683
AbstractWe have analyzed the CFTR mRNA populations in a cystic fibrosis patient heterozygous for the 621 + 1G → T and 711 + 1G → T mutations. Total RNA isolated from the nasal epithelial cells and Epstein-Barr virus-transformed lymphoblasts derived from this patient was reversely transcribed and a region extending from exon 3 to exon 7 of the gene was amplified by the polymerase chain reaction and analyzed. Three abnormal products were identified, suggesting the presence of three aberrant transcripts, and their profiles were identical in both cell types. Two of the products were found to be missing either exon 4 or exon 5 as anticipated from the transcripts from the 621 + 1G → T or 711 + 1G → T alleles, respectively. The third product was apparently derived from an alternatively spliced mRNA species in the absence of the nominal splice site (in 621 + 1G → T) through the use of a cryptic splice donor sequence (TT 528/GTGAGG) within exon 4. Although reading frames appeared to be preserved in all three putative transcripts, significant portions of the presumed first and second transmembrane spans as well as the immediately following cytoplasmic domain would be deleted from the mutant CFTR polypeptides, if made. These observations are consistent with a loss of CFTR function in this cystic fibrosis patient.
ISSN0964-6906
2011 Impact Factor: 7.636
2011 SCImago Journal Rankings: 1.308
DOIhttp://dx.doi.org/10.1093/hmg/2.6.683
ISI Accession Number IDWOS:A1993LH89200011
DC Field
Value
dc.contributor.authorZielenski, J
dc.contributor.authorBozon, D
dc.contributor.authorMarkiewicz, D
dc.contributor.authorAubin, G
dc.contributor.authorSimard, F
dc.contributor.authorRommens, JM
dc.contributor.authorTsui, LC
dc.date.accessioned2007-09-12T03:50:11Z
dc.date.available2007-09-12T03:50:11Z
dc.date.issued1993
dc.description.abstractWe have analyzed the CFTR mRNA populations in a cystic fibrosis patient heterozygous for the 621 + 1G → T and 711 + 1G → T mutations. Total RNA isolated from the nasal epithelial cells and Epstein-Barr virus-transformed lymphoblasts derived from this patient was reversely transcribed and a region extending from exon 3 to exon 7 of the gene was amplified by the polymerase chain reaction and analyzed. Three abnormal products were identified, suggesting the presence of three aberrant transcripts, and their profiles were identical in both cell types. Two of the products were found to be missing either exon 4 or exon 5 as anticipated from the transcripts from the 621 + 1G → T or 711 + 1G → T alleles, respectively. The third product was apparently derived from an alternatively spliced mRNA species in the absence of the nominal splice site (in 621 + 1G → T) through the use of a cryptic splice donor sequence (TT 528/GTGAGG) within exon 4. Although reading frames appeared to be preserved in all three putative transcripts, significant portions of the presumed first and second transmembrane spans as well as the immediately following cytoplasmic domain would be deleted from the mutant CFTR polypeptides, if made. These observations are consistent with a loss of CFTR function in this cystic fibrosis patient.
dc.description.natureabstract
dc.identifier.citationHuman Molecular Genetics, 1993, v. 2 n. 6, p. 683-687 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/2.6.683
dc.identifier.doihttp://dx.doi.org/10.1093/hmg/2.6.683
dc.identifier.epage687
dc.identifier.isiWOS:A1993LH89200011
dc.identifier.issn0964-6906
2011 Impact Factor: 7.636
2011 SCImago Journal Rankings: 1.308
dc.identifier.issue6
dc.identifier.pmid7689008
dc.identifier.scopuseid_2-s2.0-0027298522
dc.identifier.spage683
dc.identifier.urihttp://hdl.handle.net/10722/44263
dc.identifier.volume2
dc.languageeng
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
dc.publisher.placeUnited Kingdom
dc.relation.ispartofHuman Molecular Genetics
dc.subject.meshB-lymphocytes - metabolism
dc.subject.meshCystic fibrosis - blood - genetics - pathology
dc.subject.meshEpithelium - pathology
dc.subject.meshMembrane proteins - biosynthesis - genetics
dc.subject.meshRna splicing
dc.titleAnalysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G → T and 711 + 1G → T mutations
dc.typeArticle
Author Affiliations
  1. Hospital for Sick Children, Toronto