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Article: Amplification of CFTR exon 9 sequences to multiple locations in the human genome

TitleAmplification of CFTR exon 9 sequences to multiple locations in the human genome
Authors
Issue Date1997
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Citation
Genomics, 1997, v. 45 n. 3, p. 554-561 How to Cite?
Abstract
Cloning 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.
Persistent Identifierhttp://hdl.handle.net/10722/44324
ISSN
2013 Impact Factor: 2.793
ISI Accession Number ID
References

 

Author Affiliations
  1. Queen's University, Kingston
  2. University of Toronto
  3. Hospital for Sick Children University of Toronto
DC FieldValueLanguage
dc.contributor.authorRozmahel, Ren_HK
dc.contributor.authorHeng, HHQen_HK
dc.contributor.authorDuncan, AMVen_HK
dc.contributor.authorShi, XMen_HK
dc.contributor.authorRommens, JMen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:51:24Z-
dc.date.available2007-09-12T03:51:24Z-
dc.date.issued1997en_HK
dc.identifier.citationGenomics, 1997, v. 45 n. 3, p. 554-561en_HK
dc.identifier.issn0888-7543en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44324-
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.en_HK
dc.languageengen_HK
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygenoen_HK
dc.relation.ispartofGenomicsen_HK
dc.subject.meshChromosome mappingen_HK
dc.subject.meshCloning, molecularen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulator - geneticsen_HK
dc.subject.meshDNA, complementaryen_HK
dc.subject.meshGene amplificationen_HK
dc.titleAmplification of CFTR exon 9 sequences to multiple locations in the human genomeen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0888-7543&volume=45&issue=3&spage=554&epage=561&date=1997&atitle=Amplification+of+CFTR+exon+9+sequences+to+multiple+locations+in+the+human+genomeen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.natureabstracten_HK
dc.identifier.doi10.1006/geno.1997.4968en_HK
dc.identifier.pmid9367680en_HK
dc.identifier.scopuseid_2-s2.0-0031281264en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031281264&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume45en_HK
dc.identifier.issue3en_HK
dc.identifier.spage554en_HK
dc.identifier.epage561en_HK
dc.identifier.isiWOS:A1997YF97300009-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridRozmahel, R=6701510561en_HK
dc.identifier.scopusauthoridHeng, HHQ=7005338076en_HK
dc.identifier.scopusauthoridDuncan, AMV=7202585341en_HK
dc.identifier.scopusauthoridShi, XM=7402953863en_HK
dc.identifier.scopusauthoridRommens, JM=7006884140en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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