The pathological splicing mutation c.6792C > G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors
We have previously identified an ESE in NF1 exon 37 whose disruption by the pathological mutation c.6792C > G caused aberrant splicing. We now investigate the RNA-protein complexes affected by the c.6792C > G mutation observing that this concurrently decreases the affinity for the positive spl...
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| Veröffentlicht in: | FEBS letters 2008-06, Vol.582 (15), p.2231-2236 |
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| creator | Skoko, Natasa Baralle, Marco Buratti, Emanuele Baralle, Francisco E. |
| description | We have previously identified an ESE in
NF1 exon 37 whose disruption by the pathological mutation c.6792C
>
G caused aberrant splicing. We now investigate the RNA-protein complexes affected by the c.6792C
>
G mutation observing that this concurrently decreases the affinity for the positive splicing factor YB-1 and increases the affinity for the negative splicing factors, hnRNPA1, hnRNPA2 and a new player in these type of complexes, DAZAP1. Our findings highlight the complexity of the interplay between positive and negative factors in the exon inclusion/skipping outcome. Furthermore, our observations stress the role of a wide genomic context in
NF1 exon 37 definition. |
| doi_str_mv | 10.1016/j.febslet.2008.05.018 |
| format | Article |
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NF1 exon 37 whose disruption by the pathological mutation c.6792C
>
G caused aberrant splicing. We now investigate the RNA-protein complexes affected by the c.6792C
>
G mutation observing that this concurrently decreases the affinity for the positive splicing factor YB-1 and increases the affinity for the negative splicing factors, hnRNPA1, hnRNPA2 and a new player in these type of complexes, DAZAP1. Our findings highlight the complexity of the interplay between positive and negative factors in the exon inclusion/skipping outcome. Furthermore, our observations stress the role of a wide genomic context in
NF1 exon 37 definition.</description><identifier>ISSN: 0014-5793</identifier><identifier>EISSN: 1873-3468</identifier><identifier>DOI: 10.1016/j.febslet.2008.05.018</identifier><identifier>PMID: 18503770</identifier><language>eng</language><publisher>England: Elsevier B.V</publisher><subject>Alternative Splicing ; DAZAP1 ; DNA-Binding Proteins - antagonists & inhibitors ; DNA-Binding Proteins - metabolism ; Exonic splicing enhancers ; Exonic splicing silencers ; Exons ; Heterogeneous Nuclear Ribonucleoprotein A1 ; Heterogeneous-Nuclear Ribonucleoprotein Group A-B - antagonists & inhibitors ; Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism ; hnRNPA1 ; hnRNPA2 ; Humans ; Mutation ; Neurofibromatosis 1 - genetics ; Neurofibromatosis 1 - metabolism ; Neurofibromin 1 - genetics ; NF1 ; Nuclear Proteins - antagonists & inhibitors ; Nuclear Proteins - metabolism ; RNA-Binding Proteins - antagonists & inhibitors ; RNA-Binding Proteins - metabolism ; Y-Box-Binding Protein 1 ; YB-1</subject><ispartof>FEBS letters, 2008-06, Vol.582 (15), p.2231-2236</ispartof><rights>2008 Federation of European Biochemical Societies</rights><rights>FEBS Letters 582 (2008) 1873-3468 © 2015 Federation of European Biochemical Societies</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4591-7320386a46518cebac9f8adf33f0b58b3ca6d8d5c7e3a744df89b732b0d025063</citedby><cites>FETCH-LOGICAL-c4591-7320386a46518cebac9f8adf33f0b58b3ca6d8d5c7e3a744df89b732b0d025063</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1016%2Fj.febslet.2008.05.018$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.febslet.2008.05.018$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,780,784,1416,1432,3548,27922,27923,45572,45573,45993,46407,46831</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18503770$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Skoko, Natasa</creatorcontrib><creatorcontrib>Baralle, Marco</creatorcontrib><creatorcontrib>Buratti, Emanuele</creatorcontrib><creatorcontrib>Baralle, Francisco E.</creatorcontrib><title>The pathological splicing mutation c.6792C > G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors</title><title>FEBS letters</title><addtitle>FEBS Lett</addtitle><description>We have previously identified an ESE in
NF1 exon 37 whose disruption by the pathological mutation c.6792C
>
G caused aberrant splicing. We now investigate the RNA-protein complexes affected by the c.6792C
>
G mutation observing that this concurrently decreases the affinity for the positive splicing factor YB-1 and increases the affinity for the negative splicing factors, hnRNPA1, hnRNPA2 and a new player in these type of complexes, DAZAP1. Our findings highlight the complexity of the interplay between positive and negative factors in the exon inclusion/skipping outcome. Furthermore, our observations stress the role of a wide genomic context in
NF1 exon 37 definition.</description><subject>Alternative Splicing</subject><subject>DAZAP1</subject><subject>DNA-Binding Proteins - antagonists & inhibitors</subject><subject>DNA-Binding Proteins - metabolism</subject><subject>Exonic splicing enhancers</subject><subject>Exonic splicing silencers</subject><subject>Exons</subject><subject>Heterogeneous Nuclear Ribonucleoprotein A1</subject><subject>Heterogeneous-Nuclear Ribonucleoprotein Group A-B - antagonists & inhibitors</subject><subject>Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism</subject><subject>hnRNPA1</subject><subject>hnRNPA2</subject><subject>Humans</subject><subject>Mutation</subject><subject>Neurofibromatosis 1 - genetics</subject><subject>Neurofibromatosis 1 - metabolism</subject><subject>Neurofibromin 1 - genetics</subject><subject>NF1</subject><subject>Nuclear Proteins - antagonists & inhibitors</subject><subject>Nuclear Proteins - metabolism</subject><subject>RNA-Binding Proteins - antagonists & inhibitors</subject><subject>RNA-Binding Proteins - metabolism</subject><subject>Y-Box-Binding Protein 1</subject><subject>YB-1</subject><issn>0014-5793</issn><issn>1873-3468</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU9v0zAYhy0EYt3gI4B84pbwOv4T5wKCat2QJjgwzpbjvGldpXaJHUYvfPalaqUdx8my9fx-fvU-hLxjUDJg6uO27LFNA-ayAtAlyBKYfkEWTNe84ELpl2QBwEQh64ZfkMuUtjDfNWtekwumJfC6hgX5d79Burd5E4e49s4ONO0H73xY092UbfYxUFequqmW9BO9oT7Q7ytG8e_8zmvq7JQwUUvdxoY10tjTjMEGd6At5gfEQG3Idh2DT9m7p_LeuhzH9Ia86u2Q8O35vCK_Vtf3y9vi7sfNt-WXu8IJ2bCi5hVwraxQkmmHrXVNr23Xc95DK3XLnVWd7qSrkdtaiK7XTTuHWuigkqD4Fflw6t2P8feEKZudTw6HwQaMUzKqqZhSonkWrKCRleZiBuUJdGNMacTe7Ee_s-PBMDBHQ2ZrzobM0ZABaeb1z7n35w-mdofdU-qsZAZuT8CDH_Dwf61mdf21-nnUfbQNGkBUwOaqz6cqnFf7x-NokvMYHHZ-RJdNF_0z0z4CdWS5aA</recordid><startdate>20080625</startdate><enddate>20080625</enddate><creator>Skoko, Natasa</creator><creator>Baralle, Marco</creator><creator>Buratti, Emanuele</creator><creator>Baralle, Francisco E.</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>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20080625</creationdate><title>The pathological splicing mutation c.6792C > G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors</title><author>Skoko, Natasa ; Baralle, Marco ; Buratti, Emanuele ; Baralle, Francisco E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4591-7320386a46518cebac9f8adf33f0b58b3ca6d8d5c7e3a744df89b732b0d025063</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Alternative Splicing</topic><topic>DAZAP1</topic><topic>DNA-Binding Proteins - antagonists & inhibitors</topic><topic>DNA-Binding Proteins - metabolism</topic><topic>Exonic splicing enhancers</topic><topic>Exonic splicing silencers</topic><topic>Exons</topic><topic>Heterogeneous Nuclear Ribonucleoprotein A1</topic><topic>Heterogeneous-Nuclear Ribonucleoprotein Group A-B - antagonists & inhibitors</topic><topic>Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism</topic><topic>hnRNPA1</topic><topic>hnRNPA2</topic><topic>Humans</topic><topic>Mutation</topic><topic>Neurofibromatosis 1 - genetics</topic><topic>Neurofibromatosis 1 - metabolism</topic><topic>Neurofibromin 1 - genetics</topic><topic>NF1</topic><topic>Nuclear Proteins - antagonists & inhibitors</topic><topic>Nuclear Proteins - metabolism</topic><topic>RNA-Binding Proteins - antagonists & inhibitors</topic><topic>RNA-Binding Proteins - metabolism</topic><topic>Y-Box-Binding Protein 1</topic><topic>YB-1</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Skoko, Natasa</creatorcontrib><creatorcontrib>Baralle, Marco</creatorcontrib><creatorcontrib>Buratti, Emanuele</creatorcontrib><creatorcontrib>Baralle, Francisco E.</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>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>FEBS letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Skoko, Natasa</au><au>Baralle, Marco</au><au>Buratti, Emanuele</au><au>Baralle, Francisco E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The pathological splicing mutation c.6792C > G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors</atitle><jtitle>FEBS letters</jtitle><addtitle>FEBS Lett</addtitle><date>2008-06-25</date><risdate>2008</risdate><volume>582</volume><issue>15</issue><spage>2231</spage><epage>2236</epage><pages>2231-2236</pages><issn>0014-5793</issn><eissn>1873-3468</eissn><abstract>We have previously identified an ESE in
NF1 exon 37 whose disruption by the pathological mutation c.6792C
>
G caused aberrant splicing. We now investigate the RNA-protein complexes affected by the c.6792C
>
G mutation observing that this concurrently decreases the affinity for the positive splicing factor YB-1 and increases the affinity for the negative splicing factors, hnRNPA1, hnRNPA2 and a new player in these type of complexes, DAZAP1. Our findings highlight the complexity of the interplay between positive and negative factors in the exon inclusion/skipping outcome. Furthermore, our observations stress the role of a wide genomic context in
NF1 exon 37 definition.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>18503770</pmid><doi>10.1016/j.febslet.2008.05.018</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Wiley Free Content; ScienceDirect Journals (5 years ago - present); EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Alternative Splicing DAZAP1 DNA-Binding Proteins - antagonists & inhibitors DNA-Binding Proteins - metabolism Exonic splicing enhancers Exonic splicing silencers Exons Heterogeneous Nuclear Ribonucleoprotein A1 Heterogeneous-Nuclear Ribonucleoprotein Group A-B - antagonists & inhibitors Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism hnRNPA1 hnRNPA2 Humans Mutation Neurofibromatosis 1 - genetics Neurofibromatosis 1 - metabolism Neurofibromin 1 - genetics NF1 Nuclear Proteins - antagonists & inhibitors Nuclear Proteins - metabolism RNA-Binding Proteins - antagonists & inhibitors RNA-Binding Proteins - metabolism Y-Box-Binding Protein 1 YB-1 |
| title | The pathological splicing mutation c.6792C > G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors |
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