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Article: A mutation in CFTR produces different phenotypes depending on chromosomal background

TitleA mutation in CFTR produces different phenotypes depending on chromosomal background
Authors
Issue Date1993
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 1993, v. 5 n. 3, p. 274-278 How to Cite?
AbstractCystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene but the association between mutation (genotype) and disease presentation (phenotype) is not straightforward. We have been investigating whether variants in the CFTR gene that alter splicing efficiency of exon 9 can affect the phenotype produced by a mutation. A missense mutation, R117H, which has been observed in three phenotypes, was found to occur on two chromosome backgrounds with intron 8 variants that have profoundly different effects upon splicing efficiency. A close association is shown between chromosome background of the R117H mutation and phenotype. These findings demonstrate that the genetic context in which a mutation occurs can play a significant role in determining the type of illness produced.
Persistent Identifierhttp://hdl.handle.net/10722/44259
ISSN
2015 Impact Factor: 31.616
2015 SCImago Journal Rankings: 23.762
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKiesewetter, Sen_HK
dc.contributor.authorMacek Jr, Men_HK
dc.contributor.authorDavis, Cen_HK
dc.contributor.authorCurristin, SMen_HK
dc.contributor.authorChu, CSen_HK
dc.contributor.authorGraham, Cen_HK
dc.contributor.authorShrimpton, AEen_HK
dc.contributor.authorCashman, SMen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorMickle, Jen_HK
dc.contributor.authorAmos, Jen_HK
dc.contributor.authorHighsmith, WEen_HK
dc.contributor.authorShuber, Aen_HK
dc.contributor.authorWitt, DRen_HK
dc.contributor.authorCrystal, RGen_HK
dc.contributor.authorCutting, GRen_HK
dc.date.accessioned2007-09-12T03:50:05Z-
dc.date.available2007-09-12T03:50:05Z-
dc.date.issued1993en_HK
dc.identifier.citationNature Genetics, 1993, v. 5 n. 3, p. 274-278en_HK
dc.identifier.issn1061-4036en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44259-
dc.description.abstractCystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene but the association between mutation (genotype) and disease presentation (phenotype) is not straightforward. We have been investigating whether variants in the CFTR gene that alter splicing efficiency of exon 9 can affect the phenotype produced by a mutation. A missense mutation, R117H, which has been observed in three phenotypes, was found to occur on two chromosome backgrounds with intron 8 variants that have profoundly different effects upon splicing efficiency. A close association is shown between chromosome background of the R117H mutation and phenotype. These findings demonstrate that the genetic context in which a mutation occurs can play a significant role in determining the type of illness produced.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_HK
dc.relation.ispartofNature Geneticsen_HK
dc.subject.meshAfrican continental ancestry group - geneticsen_HK
dc.subject.meshCystic fibrosis - ethnology - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulatoren_HK
dc.subject.meshEuropean continental ancestry group - geneticsen_HK
dc.subject.meshEthnic groups - geneticsen_HK
dc.titleA mutation in CFTR produces different phenotypes depending on chromosomal backgrounden_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1038/ng1193-274en_HK
dc.identifier.pmid7506096-
dc.identifier.scopuseid_2-s2.0-0027521663en_HK
dc.identifier.volume5en_HK
dc.identifier.issue3en_HK
dc.identifier.spage274en_HK
dc.identifier.epage278en_HK
dc.identifier.isiWOS:A1993MF12200019-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridKiesewetter, S=6602772565en_HK
dc.identifier.scopusauthoridMacek Jr, M=35332282600en_HK
dc.identifier.scopusauthoridDavis, C=15050350900en_HK
dc.identifier.scopusauthoridCurristin, SM=6602652353en_HK
dc.identifier.scopusauthoridChu, CS=36877109300en_HK
dc.identifier.scopusauthoridGraham, C=8502675700en_HK
dc.identifier.scopusauthoridShrimpton, AE=7004677998en_HK
dc.identifier.scopusauthoridCashman, SM=7005004332en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridMickle, J=7006333094en_HK
dc.identifier.scopusauthoridAmos, J=7006077110en_HK
dc.identifier.scopusauthoridHighsmith, WE=7004210389en_HK
dc.identifier.scopusauthoridShuber, A=6603898225en_HK
dc.identifier.scopusauthoridWitt, DR=7005120444en_HK
dc.identifier.scopusauthoridCrystal, RG=24533030400en_HK
dc.identifier.scopusauthoridCutting, GR=7006007820en_HK

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