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Article: Amplification of CFTR exon 9 sequences to multiple locations in the human genome
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TitleAmplification of CFTR exon 9 sequences to multiple locations in the human genome
 
AuthorsRozmahel, R2 3
Heng, HHQ2 3
Duncan, AMV1
Shi, XM3
Rommens, JM2 3
Tsui, LC3 2
 
Issue Date1997
 
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
 
CitationGenomics, 1997, v. 45 n. 3, p. 554-561 [How to Cite?]
DOI: http://dx.doi.org/10.1006/geno.1997.4968
 
AbstractCloning and characterization of the cystic fibrosis transmembrane conductance regulator (CFTR) gene led to the identification and isolation of cDNA and genomic sequences that cross-hybridized to the first nucleotide binding fold of CFTR. DNA sequence analysis of these clones showed that the cross-hybridizing sequences corresponded to CFTR exon 9 and its flanking introns, juxtapositioned with two segments of LINE1 sequences. The CFTR sequence appeared to have been transcribed from the opposite direction of the gene, reversely transcribed, and co-integrated with the L1 sequences into a chromosome location distinct from that of the CFTR locus. Based on hybridization intensity and complexity of the restriction fragments, it was estimated that there were at least 10 copies of the 'amplified' CFTR exon 9 sequences in the human genome. Furthermore, when DNA segments adjacent to the insertion site were used in genomic DNA blot hybridization analysis, multiple copies were also detected. The overall similarity between these CFTR exon 9- related sequences suggested that they were derived from a single retrotransposition event and subsequent sequence amplification. The amplification unit appeared to be greater than 30 kb. Physical mapping studies including in situ hybridization to human metaphase chromosomes showed that multiple copies of these amplified sequences (with and without the CFTR exon 9 insertion) were dispersed throughout the genome. These findings provide insight into the structure and evolution of the human genome.
 
ISSN0888-7543
2012 Impact Factor: 3.01
2012 SCImago Journal Rankings: 1.280
 
DOIhttp://dx.doi.org/10.1006/geno.1997.4968
 
ISI Accession Number IDWOS:A1997YF97300009
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorRozmahel, R
 
dc.contributor.authorHeng, HHQ
 
dc.contributor.authorDuncan, AMV
 
dc.contributor.authorShi, XM
 
dc.contributor.authorRommens, JM
 
dc.contributor.authorTsui, LC
 
dc.date.accessioned2007-09-12T03:51:24Z
 
dc.date.available2007-09-12T03:51:24Z
 
dc.date.issued1997
 
dc.description.abstractCloning and characterization of the cystic fibrosis transmembrane conductance regulator (CFTR) gene led to the identification and isolation of cDNA and genomic sequences that cross-hybridized to the first nucleotide binding fold of CFTR. DNA sequence analysis of these clones showed that the cross-hybridizing sequences corresponded to CFTR exon 9 and its flanking introns, juxtapositioned with two segments of LINE1 sequences. The CFTR sequence appeared to have been transcribed from the opposite direction of the gene, reversely transcribed, and co-integrated with the L1 sequences into a chromosome location distinct from that of the CFTR locus. Based on hybridization intensity and complexity of the restriction fragments, it was estimated that there were at least 10 copies of the 'amplified' CFTR exon 9 sequences in the human genome. Furthermore, when DNA segments adjacent to the insertion site were used in genomic DNA blot hybridization analysis, multiple copies were also detected. The overall similarity between these CFTR exon 9- related sequences suggested that they were derived from a single retrotransposition event and subsequent sequence amplification. The amplification unit appeared to be greater than 30 kb. Physical mapping studies including in situ hybridization to human metaphase chromosomes showed that multiple copies of these amplified sequences (with and without the CFTR exon 9 insertion) were dispersed throughout the genome. These findings provide insight into the structure and evolution of the human genome.
 
dc.description.natureabstract
 
dc.identifier.citationGenomics, 1997, v. 45 n. 3, p. 554-561 [How to Cite?]
DOI: http://dx.doi.org/10.1006/geno.1997.4968
 
dc.identifier.doihttp://dx.doi.org/10.1006/geno.1997.4968
 
dc.identifier.epage561
 
dc.identifier.isiWOS:A1997YF97300009
 
dc.identifier.issn0888-7543
2012 Impact Factor: 3.01
2012 SCImago Journal Rankings: 1.280
 
dc.identifier.issue3
 
dc.identifier.openurl
 
dc.identifier.pmid9367680
 
dc.identifier.scopuseid_2-s2.0-0031281264
 
dc.identifier.spage554
 
dc.identifier.urihttp://hdl.handle.net/10722/44324
 
dc.identifier.volume45
 
dc.languageeng
 
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
 
dc.publisher.placeUnited States
 
dc.relation.ispartofGenomics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshChromosome mapping
 
dc.subject.meshCloning, molecular
 
dc.subject.meshCystic fibrosis transmembrane conductance regulator - genetics
 
dc.subject.meshDNA, complementary
 
dc.subject.meshGene amplification
 
dc.titleAmplification of CFTR exon 9 sequences to multiple locations in the human genome
 
dc.typeArticle
 
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<contributor.author>Shi, XM</contributor.author>
<contributor.author>Rommens, JM</contributor.author>
<contributor.author>Tsui, LC</contributor.author>
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Author Affiliations
  1. Queen's University, Kingston
  2. University of Toronto
  3. Hospital for Sick Children University of Toronto