Splicing defects in the CFTR gene: Minigene analysis of two mutations, 1811+1G>C and 1898+3A>G
Abstract Background Cystic fibrosis is caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR). Among the 1795 reported mutations, 221 (12.31%) are believed to affect pre-mRNA splicing. Nevertheless, not all splicing mutations have been demonstrated, by functional...
Gespeichert in:
| Veröffentlicht in: | Journal of cystic fibrosis 2011-05, Vol.10 (3), p.212-216 |
|---|---|
| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 216 |
|---|---|
| container_issue | 3 |
| container_start_page | 212 |
| container_title | Journal of cystic fibrosis |
| container_volume | 10 |
| creator | Dujardin, Gwendal Commandeur, Diane Le Jossic-Corcos, Catherine Ferec, Claude Corcos, Laurent |
| description | Abstract Background Cystic fibrosis is caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR). Among the 1795 reported mutations, 221 (12.31%) are believed to affect pre-mRNA splicing. Nevertheless, not all splicing mutations have been demonstrated, by functional assays, to affect splicing in living cells. Methods We have used a minigene-based approach, coupled to site-specific mutagenesis, to analyze the effects of presumptive pre-mRNA splicing mutations. Results We show here that the intron 11 1811+1G>C and the intron 12 1898+3A>G mutations strongly affected CFTR pre-mRNA splicing. The encoded proteins are predicted to be defective, which would thus participate in the disease phenotype of carrier individuals. Conclusions These results further validate the minigene strategy for the study of presumptive splice mutations, and report unanticipated defects in splicing. Such assays should improve the analysis of genotype–phenotype correlations. |
| doi_str_mv | 10.1016/j.jcf.2010.12.008 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_867729141</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S1569199311000026</els_id><sourcerecordid>867729141</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3658-fe051098cd44b429cbe52a0f9530cf15b669b7abafbfd7e1d7e95116538744733</originalsourceid><addsrcrecordid>eNp9kU9r3DAQxUVpaP71A_QSdOsh9VZjWZbUwkJYkk0hpZCk1wpZHiVyvPbWslv221dm0xx6qEDojXhvYH5DyDtgC2BQfmwWjfOLnM11vmBMvSJHoCTPRPp6nbQodQZa80NyHGPDGEgm1RtymANPslBH5Mfdtg0udA-0Ro9ujDR0dHxEurq6v6UP2OEn-jV0YVbUdrbdxRBp7-n4u6ebabRj6Lv4gYICOIf1cpVMdaq0OucXy_UpOfC2jfj2-T0h368u71fX2c239ZfVxU3meClU5pEJYFq5uiiqIteuQpFb5rXgzHkQVVnqStrK-srXEiFdLQBKwZUsCsn5CXm_77sd-p8TxtFsQnTYtrbDfopGlVLmGgpITtg73dDHOKA32yFs7LAzwMxM1TQmUTUzVQO5SVRT5uy5-1RtsH5J_MWYDJ_3Bkwz_go4mOgCdg7rMCSopu7Df9sv_0m7NiF3tn3CHcamn4YEPhowMQXM3bzWeasALJ285H8AWaOYUA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>867729141</pqid></control><display><type>article</type><title>Splicing defects in the CFTR gene: Minigene analysis of two mutations, 1811+1G>C and 1898+3A>G</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><creator>Dujardin, Gwendal ; Commandeur, Diane ; Le Jossic-Corcos, Catherine ; Ferec, Claude ; Corcos, Laurent</creator><creatorcontrib>Dujardin, Gwendal ; Commandeur, Diane ; Le Jossic-Corcos, Catherine ; Ferec, Claude ; Corcos, Laurent</creatorcontrib><description>Abstract Background Cystic fibrosis is caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR). Among the 1795 reported mutations, 221 (12.31%) are believed to affect pre-mRNA splicing. Nevertheless, not all splicing mutations have been demonstrated, by functional assays, to affect splicing in living cells. Methods We have used a minigene-based approach, coupled to site-specific mutagenesis, to analyze the effects of presumptive pre-mRNA splicing mutations. Results We show here that the intron 11 1811+1G>C and the intron 12 1898+3A>G mutations strongly affected CFTR pre-mRNA splicing. The encoded proteins are predicted to be defective, which would thus participate in the disease phenotype of carrier individuals. Conclusions These results further validate the minigene strategy for the study of presumptive splice mutations, and report unanticipated defects in splicing. Such assays should improve the analysis of genotype–phenotype correlations.</description><identifier>ISSN: 1569-1993</identifier><identifier>EISSN: 1873-5010</identifier><identifier>DOI: 10.1016/j.jcf.2010.12.008</identifier><identifier>PMID: 21317048</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Adenine ; Alternative Splicing ; Cystic fibrosis ; Cystic Fibrosis - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Cytosine ; Guanine ; Heterozygote ; Humans ; Introns ; Minigene assays ; Mutagenesis, Site-Directed ; Mutation ; Mutation analysis ; Phenotype ; Pulmonary/Respiratory ; RNA Precursors - genetics ; RNA Splicing</subject><ispartof>Journal of cystic fibrosis, 2011-05, Vol.10 (3), p.212-216</ispartof><rights>European Cystic Fibrosis Society.</rights><rights>2011 European Cystic Fibrosis Society.</rights><rights>Copyright © 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3658-fe051098cd44b429cbe52a0f9530cf15b669b7abafbfd7e1d7e95116538744733</citedby><cites>FETCH-LOGICAL-c3658-fe051098cd44b429cbe52a0f9530cf15b669b7abafbfd7e1d7e95116538744733</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1569199311000026$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21317048$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dujardin, Gwendal</creatorcontrib><creatorcontrib>Commandeur, Diane</creatorcontrib><creatorcontrib>Le Jossic-Corcos, Catherine</creatorcontrib><creatorcontrib>Ferec, Claude</creatorcontrib><creatorcontrib>Corcos, Laurent</creatorcontrib><title>Splicing defects in the CFTR gene: Minigene analysis of two mutations, 1811+1G>C and 1898+3A>G</title><title>Journal of cystic fibrosis</title><addtitle>J Cyst Fibros</addtitle><description>Abstract Background Cystic fibrosis is caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR). Among the 1795 reported mutations, 221 (12.31%) are believed to affect pre-mRNA splicing. Nevertheless, not all splicing mutations have been demonstrated, by functional assays, to affect splicing in living cells. Methods We have used a minigene-based approach, coupled to site-specific mutagenesis, to analyze the effects of presumptive pre-mRNA splicing mutations. Results We show here that the intron 11 1811+1G>C and the intron 12 1898+3A>G mutations strongly affected CFTR pre-mRNA splicing. The encoded proteins are predicted to be defective, which would thus participate in the disease phenotype of carrier individuals. Conclusions These results further validate the minigene strategy for the study of presumptive splice mutations, and report unanticipated defects in splicing. Such assays should improve the analysis of genotype–phenotype correlations.</description><subject>Adenine</subject><subject>Alternative Splicing</subject><subject>Cystic fibrosis</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Cytosine</subject><subject>Guanine</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Introns</subject><subject>Minigene assays</subject><subject>Mutagenesis, Site-Directed</subject><subject>Mutation</subject><subject>Mutation analysis</subject><subject>Phenotype</subject><subject>Pulmonary/Respiratory</subject><subject>RNA Precursors - genetics</subject><subject>RNA Splicing</subject><issn>1569-1993</issn><issn>1873-5010</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU9r3DAQxUVpaP71A_QSdOsh9VZjWZbUwkJYkk0hpZCk1wpZHiVyvPbWslv221dm0xx6qEDojXhvYH5DyDtgC2BQfmwWjfOLnM11vmBMvSJHoCTPRPp6nbQodQZa80NyHGPDGEgm1RtymANPslBH5Mfdtg0udA-0Ro9ujDR0dHxEurq6v6UP2OEn-jV0YVbUdrbdxRBp7-n4u6ebabRj6Lv4gYICOIf1cpVMdaq0OucXy_UpOfC2jfj2-T0h368u71fX2c239ZfVxU3meClU5pEJYFq5uiiqIteuQpFb5rXgzHkQVVnqStrK-srXEiFdLQBKwZUsCsn5CXm_77sd-p8TxtFsQnTYtrbDfopGlVLmGgpITtg73dDHOKA32yFs7LAzwMxM1TQmUTUzVQO5SVRT5uy5-1RtsH5J_MWYDJ_3Bkwz_go4mOgCdg7rMCSopu7Df9sv_0m7NiF3tn3CHcamn4YEPhowMQXM3bzWeasALJ285H8AWaOYUA</recordid><startdate>201105</startdate><enddate>201105</enddate><creator>Dujardin, Gwendal</creator><creator>Commandeur, Diane</creator><creator>Le Jossic-Corcos, Catherine</creator><creator>Ferec, Claude</creator><creator>Corcos, Laurent</creator><general>Elsevier B.V</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>201105</creationdate><title>Splicing defects in the CFTR gene: Minigene analysis of two mutations, 1811+1G>C and 1898+3A>G</title><author>Dujardin, Gwendal ; Commandeur, Diane ; Le Jossic-Corcos, Catherine ; Ferec, Claude ; Corcos, Laurent</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3658-fe051098cd44b429cbe52a0f9530cf15b669b7abafbfd7e1d7e95116538744733</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adenine</topic><topic>Alternative Splicing</topic><topic>Cystic fibrosis</topic><topic>Cystic Fibrosis - genetics</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>Cytosine</topic><topic>Guanine</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Introns</topic><topic>Minigene assays</topic><topic>Mutagenesis, Site-Directed</topic><topic>Mutation</topic><topic>Mutation analysis</topic><topic>Phenotype</topic><topic>Pulmonary/Respiratory</topic><topic>RNA Precursors - genetics</topic><topic>RNA Splicing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dujardin, Gwendal</creatorcontrib><creatorcontrib>Commandeur, Diane</creatorcontrib><creatorcontrib>Le Jossic-Corcos, Catherine</creatorcontrib><creatorcontrib>Ferec, Claude</creatorcontrib><creatorcontrib>Corcos, Laurent</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of cystic fibrosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dujardin, Gwendal</au><au>Commandeur, Diane</au><au>Le Jossic-Corcos, Catherine</au><au>Ferec, Claude</au><au>Corcos, Laurent</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Splicing defects in the CFTR gene: Minigene analysis of two mutations, 1811+1G>C and 1898+3A>G</atitle><jtitle>Journal of cystic fibrosis</jtitle><addtitle>J Cyst Fibros</addtitle><date>2011-05</date><risdate>2011</risdate><volume>10</volume><issue>3</issue><spage>212</spage><epage>216</epage><pages>212-216</pages><issn>1569-1993</issn><eissn>1873-5010</eissn><abstract>Abstract Background Cystic fibrosis is caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR). Among the 1795 reported mutations, 221 (12.31%) are believed to affect pre-mRNA splicing. Nevertheless, not all splicing mutations have been demonstrated, by functional assays, to affect splicing in living cells. Methods We have used a minigene-based approach, coupled to site-specific mutagenesis, to analyze the effects of presumptive pre-mRNA splicing mutations. Results We show here that the intron 11 1811+1G>C and the intron 12 1898+3A>G mutations strongly affected CFTR pre-mRNA splicing. The encoded proteins are predicted to be defective, which would thus participate in the disease phenotype of carrier individuals. Conclusions These results further validate the minigene strategy for the study of presumptive splice mutations, and report unanticipated defects in splicing. Such assays should improve the analysis of genotype–phenotype correlations.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>21317048</pmid><doi>10.1016/j.jcf.2010.12.008</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1569-1993 |
| ispartof | Journal of cystic fibrosis, 2011-05, Vol.10 (3), p.212-216 |
| issn | 1569-1993 1873-5010 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_867729141 |
| source | MEDLINE; Elsevier ScienceDirect Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Adenine Alternative Splicing Cystic fibrosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Cytosine Guanine Heterozygote Humans Introns Minigene assays Mutagenesis, Site-Directed Mutation Mutation analysis Phenotype Pulmonary/Respiratory RNA Precursors - genetics RNA Splicing |
| title | Splicing defects in the CFTR gene: Minigene analysis of two mutations, 1811+1G>C and 1898+3A>G |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-31T04%3A36%3A20IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Splicing%20defects%20in%20the%20CFTR%20gene:%20Minigene%20analysis%20of%20two%20mutations,%201811+1G%3EC%20and%201898+3A%3EG&rft.jtitle=Journal%20of%20cystic%20fibrosis&rft.au=Dujardin,%20Gwendal&rft.date=2011-05&rft.volume=10&rft.issue=3&rft.spage=212&rft.epage=216&rft.pages=212-216&rft.issn=1569-1993&rft.eissn=1873-5010&rft_id=info:doi/10.1016/j.jcf.2010.12.008&rft_dat=%3Cproquest_cross%3E867729141%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=867729141&rft_id=info:pmid/21317048&rft_els_id=S1569199311000026&rfr_iscdi=true |