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Article: Identification of revertants for the cystic fibrosis ΔF508 mutation using STE6-CFTR chimeras in yeast

TitleIdentification of revertants for the cystic fibrosis ΔF508 mutation using STE6-CFTR chimeras in yeast
Authors
Issue Date1993
PublisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/cell
Citation
Cell, 1993, v. 73 n. 2, p. 335-346 How to Cite?
AbstractMutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) cause cystic fibrosis; the most common mutation is deletion of phenylalanine at position 508 (ΔF508). We constructed STE6- CFTR chimeras with portions of the first nucleotide-binding domain (NBD1) of the yeast STE6 a-factor transporter replaced by portions of CFTR NBD1. The chimeras were functional in yeast, but mating efficiency decreased when ΔF508 was introduced into NBD1. We isolated two ΔF508 revertant mutations (R553M and R553Q) that restored mating; both were located within the CFTR NBD1 sequence. Introduction of these revertant mutations into human CFTR partially corrected the processing and Cl- channel gating defects caused by the ΔF508 mutation. These results suggest that the NBD1s of CFTR and STE6 share a similar structure and function and that, in CFTR, the regions containing F508 and R553 interact. They also indicate that the abnormal conformation produced by ΔF508 can be partially corrected by additional alterations in the protein.
Persistent Identifierhttp://hdl.handle.net/10722/44262
ISSN
2015 Impact Factor: 28.71
2015 SCImago Journal Rankings: 28.188
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorTeem, JLen_HK
dc.contributor.authorBerger, HAen_HK
dc.contributor.authorOstedgaard, LSen_HK
dc.contributor.authorRich, DPen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorWelsh, MJen_HK
dc.date.accessioned2007-09-12T03:50:08Z-
dc.date.available2007-09-12T03:50:08Z-
dc.date.issued1993en_HK
dc.identifier.citationCell, 1993, v. 73 n. 2, p. 335-346en_HK
dc.identifier.issn0092-8674en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44262-
dc.description.abstractMutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) cause cystic fibrosis; the most common mutation is deletion of phenylalanine at position 508 (ΔF508). We constructed STE6- CFTR chimeras with portions of the first nucleotide-binding domain (NBD1) of the yeast STE6 a-factor transporter replaced by portions of CFTR NBD1. The chimeras were functional in yeast, but mating efficiency decreased when ΔF508 was introduced into NBD1. We isolated two ΔF508 revertant mutations (R553M and R553Q) that restored mating; both were located within the CFTR NBD1 sequence. Introduction of these revertant mutations into human CFTR partially corrected the processing and Cl- channel gating defects caused by the ΔF508 mutation. These results suggest that the NBD1s of CFTR and STE6 share a similar structure and function and that, in CFTR, the regions containing F508 and R553 interact. They also indicate that the abnormal conformation produced by ΔF508 can be partially corrected by additional alterations in the protein.en_HK
dc.languageengen_HK
dc.publisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/cellen_HK
dc.relation.ispartofCellen_HK
dc.rightsThis paper has been submitted to Cancer Cell for considerationen_HK
dc.subject.meshAtp-binding cassette transportersen_HK
dc.subject.meshAdenosinetriphosphatase - metabolismen_HK
dc.subject.meshFungal proteins - geneticsen_HK
dc.subject.meshGlycoproteinsen_HK
dc.subject.meshIon channels - genetics - metabolismen_HK
dc.titleIdentification of revertants for the cystic fibrosis ΔF508 mutation using STE6-CFTR chimeras in yeasten_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0092-8674&volume=73&issue=2&spage=335&epage=346&date=1993&atitle=Identification+of+revertants+for+the+cystic+fibrosis+delta+F508+mutation+using+STE6-CFTR+chimeras+in+yeasten_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.doi10.1016/0092-8674(93)90233-Gen_HK
dc.identifier.pmid7682896-
dc.identifier.scopuseid_2-s2.0-0027153083en_HK
dc.identifier.volume73en_HK
dc.identifier.issue2en_HK
dc.identifier.spage335en_HK
dc.identifier.epage346en_HK
dc.identifier.isiWOS:A1993KY50500014-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridTeem, JL=6602232159en_HK
dc.identifier.scopusauthoridBerger, HA=7402782973en_HK
dc.identifier.scopusauthoridOstedgaard, LS=6701764343en_HK
dc.identifier.scopusauthoridRich, DP=7202586350en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridWelsh, MJ=35447946600en_HK

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