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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
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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
2013 Impact Factor: 6.677
 
DOIhttp://dx.doi.org/10.1093/hmg/2.6.683
 
ISI Accession Number IDWOS:A1993LH89200011
 
DC FieldValue
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.description.naturelink_to_subscribed_fulltext
 
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
2013 Impact Factor: 6.677
 
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
 
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<contributor.author>Bozon, D</contributor.author>
<contributor.author>Markiewicz, D</contributor.author>
<contributor.author>Aubin, G</contributor.author>
<contributor.author>Simard, F</contributor.author>
<contributor.author>Rommens, JM</contributor.author>
<contributor.author>Tsui, LC</contributor.author>
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<date.available>2007-09-12T03:50:11Z</date.available>
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<description.abstract>We have analyzed the CFTR mRNA populations in a cystic fibrosis patient heterozygous for the 621 + 1G &#8594; T and 711 + 1G &#8594; 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 &#8594; T or 711 + 1G &#8594; 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 &#8594; 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.</description.abstract>
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Author Affiliations
  1. Hospital for Sick Children University of Toronto