Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene
Identifieur interne : 000421 ( Istex/Corpus ); précédent : 000420; suivant : 000422Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene
Auteurs : Glséle Danglot ; Vinclane Régnler ; Didier Fauvet ; Gilles Vassal ; Michéle Kujas ; Alain BernheimSource :
- Human Molecular Genetics [ 0964-6906 ] ; 1995-05.
Abstract
The neurofibromatosis 1 gene seems to play essential roles at several different stages of life. During embryogenesis, it is involved in cardiac development while in the adult, neurofibromin (the corresponding protein) is mainly expressed In the nervous system, and therein, essentially in neurons, non-myeiinating Schwann cells and ollgodendrocytes. In addition, the NF1 gene is considered a tumor suppressor gene, since mutations have been associated with the occurrence of benign and malignant tumors in neuralcrest-derived tissues. Using reverse transcription polymerase chain reaction (RT-PCR) analyses with primers located in exons 7 and 13, we have identified evidence of alternative splicing in this region of the NF1 gene. Cloning and sequencing of cDNA allowed the characterization of an isotorm bearing an extra 30 bp sequence between exons 9 and 10a, leading to the insertion of 10 amino acids between residues 420 and 421 of neurofibromin. The insertion is conserved in the mouse. Examination of the pattern of expres sion of this isoform demonstrated a high level of expression in the central nervous system and an absence of expression in all the other normal tissues tested including peripheral nervous tissues derived from the neural crest. Analysis of brain tumors indi cated a reduced expression of the alternative exon in meduiloblastomas and oligodendrogliomas. The results presented here are consistent with tissuespecific expression of this alternative exon which we propose to call exon 9br.
Url:
DOI: 10.1093/hmg/4.5.915
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ISTEX:DA95137D03F73F59A061F87B5E8DEE63FB6CEBCCLe document en format XML
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1158</mods:affiliation></affiliation><affiliation><mods:affiliation>To whom correspondence should be addressed</mods:affiliation></affiliation><affiliation><mods:affiliation>*To whom correspondence should be addressed</mods:affiliation></affiliation></author><author><name sortKey="Regnler, Vinclane" sort="Regnler, Vinclane" uniqKey="Regnler V" first="Vinclane" last="Régnler">Vinclane Régnler</name><affiliation><mods:affiliation>Cytogénetique et Génétique Oncologiques CNRS URA 1158</mods:affiliation></affiliation></author><author><name sortKey="Fauvet, Didier" sort="Fauvet, Didier" uniqKey="Fauvet D" first="Didier" last="Fauvet">Didier Fauvet</name><affiliation><mods:affiliation>Cytogénetique et Génétique Oncologiques CNRS URA 1158</mods:affiliation></affiliation></author><author><name sortKey="Vassal, Gilles" sort="Vassal, Gilles" uniqKey="Vassal G" first="Gilles" last="Vassal">Gilles Vassal</name><affiliation><mods:affiliation>P´diatrie Institut Gustave Roussy 39 rue Camille Desmoulins 94805 Villejuif cedex</mods:affiliation></affiliation></author><author><name sortKey="Kujas, Michele" sort="Kujas, Michele" uniqKey="Kujas M" first="Michéle" last="Kujas">Michéle Kujas</name><affiliation><mods:affiliation>Neuropathologie Hopital Pitié-Salpétrière 73 Boulevard de I'Hôpital, 75013 Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Bernheim, Alain" sort="Bernheim, Alain" uniqKey="Bernheim A" first="Alain" last="Bernheim">Alain Bernheim</name><affiliation><mods:affiliation>Cytogénetique et Génétique Oncologiques CNRS URA 1158</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="1995-05">1995-05</date><biblScope unit="volume">4</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" 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During embryogenesis, it is involved in cardiac development while in the adult, neurofibromin (the corresponding protein) is mainly expressed In the nervous system, and therein, essentially in neurons, non-myeiinating Schwann cells and ollgodendrocytes. In addition, the NF1 gene is considered a tumor suppressor gene, since mutations have been associated with the occurrence of benign and malignant tumors in neuralcrest-derived tissues. Using reverse transcription polymerase chain reaction (RT-PCR) analyses with primers located in exons 7 and 13, we have identified evidence of alternative splicing in this region of the NF1 gene. Cloning and sequencing of cDNA allowed the characterization of an isotorm bearing an extra 30 bp sequence between exons 9 and 10a, leading to the insertion of 10 amino acids between residues 420 and 421 of neurofibromin. The insertion is conserved in the mouse. Examination of the pattern of expres sion of this isoform demonstrated a high level of expression in the central nervous system and an absence of expression in all the other normal tissues tested including peripheral nervous tissues derived from the neural crest. Analysis of brain tumors indi cated a reduced expression of the alternative exon in meduiloblastomas and oligodendrogliomas. The results presented here are consistent with tissuespecific expression of this alternative exon which we propose to call exon 9br.</div></front></TEI><istex><corpusName>oup</corpusName><author><json:item><name>Glséle Danglot</name><affiliations><json:string>Cytogénetique et Génétique Oncologiques CNRS URA 1158</json:string><json:string>To whom correspondence should be addressed</json:string><json:string>*To whom correspondence should be addressed</json:string></affiliations></json:item><json:item><name>Vinclane Régnler</name><affiliations><json:string>Cytogénetique et Génétique Oncologiques CNRS URA 1158</json:string></affiliations></json:item><json:item><name>Didier Fauvet</name><affiliations><json:string>Cytogénetique et Génétique Oncologiques CNRS URA 1158</json:string></affiliations></json:item><json:item><name>Gilles Vassal</name><affiliations><json:string>P´diatrie Institut Gustave Roussy 39 rue Camille Desmoulins 94805 Villejuif cedex</json:string></affiliations></json:item><json:item><name>Michéle Kujas</name><affiliations><json:string>Neuropathologie Hopital Pitié-Salpétrière 73 Boulevard de I'Hôpital, 75013 Paris, France</json:string></affiliations></json:item><json:item><name>Alain Bernheim</name><affiliations><json:string>Cytogénetique et Génétique Oncologiques CNRS URA 1158</json:string></affiliations></json:item></author><articleId><json:string>4.5.915</json:string></articleId><arkIstex>ark:/67375/HXZ-WXJHPHDM-J</arkIstex><language><json:string>unknown</json:string></language><originalGenre><json:string>other</json:string></originalGenre><abstract>The neurofibromatosis 1 gene seems to play essential roles at several different stages of life. 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During embryogenesis, it is involved in cardiac development while in the adult, neurofibromin (the corresponding protein) is mainly expressed In the nervous system, and therein, essentially in neurons, non-myeiinating Schwann cells and ollgodendrocytes. In addition, the NF1 gene is considered a tumor suppressor gene, since mutations have been associated with the occurrence of benign and malignant tumors in neuralcrest-derived tissues. Using reverse transcription polymerase chain reaction (RT-PCR) analyses with primers located in exons 7 and 13, we have identified evidence of alternative splicing in this region of the NF1 gene. Cloning and sequencing of cDNA allowed the characterization of an isotorm bearing an extra 30 bp sequence between exons 9 and 10a, leading to the insertion of 10 amino acids between residues 420 and 421 of neurofibromin. The insertion is conserved in the mouse. Examination of the pattern of expres sion of this isoform demonstrated a high level of expression in the central nervous system and an absence of expression in all the other normal tissues tested including peripheral nervous tissues derived from the neural crest. Analysis of brain tumors indi cated a reduced expression of the alternative exon in meduiloblastomas and oligodendrogliomas. The results presented here are consistent with tissuespecific expression of this alternative exon which we propose to call exon 9br.</p></abstract><textClass><keywords scheme="Journal Subject"><list><head></head><item><term>REPORTS</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1995-05">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2017-10-6">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/DA95137D03F73F59A061F87B5E8DEE63FB6CEBCC/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus oup, element #text not found" wicri:toSee="no header"><istex:docType PUBLIC="-//NLM//DTD Journal Publishing DTD v2.3 20070202//EN" URI="journalpublishing.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="other">
<front>
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<journal-id journal-id-type="hwp">hmg</journal-id>
<journal-id journal-id-type="publisher-id">hmg</journal-id>
<journal-id journal-id-type="pmc">hmg</journal-id>
<journal-title>Human Molecular Genetics</journal-title>
<issn pub-type="epub">1460-2083</issn>
<issn pub-type="ppub">0964-6906</issn>
<publisher>
<publisher-name>Oxford University Press</publisher-name>
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<article-id pub-id-type="publisher-id">4.5.915</article-id>
<article-id pub-id-type="doi">10.1093/hmg/4.5.915</article-id>
<article-categories>
<subj-group>
<subject>REPORTS</subject>
</subj-group>
</article-categories>
<title-group>
<article-title>Neurofibromatosis 1 <italic>(NF1)</italic> mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name><surname>Danglot</surname><given-names>Glséle</given-names></name><xref ref-type="corresp" rid="cor1"><sup>*</sup></xref><xref ref-type="aff" rid="au3"></xref>
</contrib>
<contrib contrib-type="author">
<name><surname>Régnler</surname><given-names>Vinclane</given-names></name><xref ref-type="aff" rid="au3"></xref>
</contrib>
<contrib contrib-type="author">
<name><surname>Fauvet</surname><given-names>Didier</given-names></name><xref ref-type="aff" rid="au3"></xref>
</contrib>
<contrib contrib-type="author">
<name><surname>Vassal</surname><given-names>Gilles</given-names></name><xref ref-type="aff" rid="au1"><sup>1</sup></xref>
</contrib>
<contrib contrib-type="author">
<name><surname>Kujas</surname><given-names>Michéle</given-names></name><xref ref-type="aff" rid="au2"><sup>2</sup></xref>
</contrib>
<contrib contrib-type="author">
<name><surname>Bernheim</surname><given-names>Alain</given-names></name><xref ref-type="aff" rid="au3"></xref>
</contrib>
<aff id="au3"><institution>Cytogénetique et Génétique Oncologiques</institution> <addr-line>CNRS URA 1158</addr-line></aff>
<aff id="au1"><sup>1</sup><institution>P´diatrie Institut Gustave Roussy</institution> <addr-line>39 rue Camille Desmoulins 94805 Villejuif cedex</addr-line></aff>
<aff id="au2"><sup>2</sup><institution>Neuropathologie Hopital Pitié-Salpétrière</institution> <addr-line>73 Boulevard de I'Hôpital, 75013 Paris, France</addr-line></aff>
</contrib-group>
<author-notes>
<corresp id="cor1"><sup>*</sup>To whom correspondence should be addressed</corresp>
</author-notes>
<pub-date pub-type="ppub">
<month>5</month>
<year>1995</year>
</pub-date>
<volume>4</volume>
<issue>5</issue>
<fpage>915</fpage>
<lpage>920</lpage>
<history>
<date date-type="received">
<day>22</day>
<month>12</month>
<year>1994</year>
</date>
<date date-type="rev-recd">
<day>22</day>
<month>2</month>
<year>1995</year>
</date>
<date date-type="accepted">
<day>22</day>
<month>2</month>
<year>1995</year>
</date>
</history>
<copyright-statement>© 1995 Oxford University Press</copyright-statement>
<copyright-year>1995</copyright-year>
<abstract>
<p>The neurofibromatosis 1 gene seems to play essential roles at several different stages of life. During embryogenesis, it is involved in cardiac development while in the adult, neurofibromin (the corresponding protein) is mainly expressed In the nervous system, and therein, essentially in neurons, non-myeiinating Schwann cells and ollgodendrocytes. In addition, the <italic>NF1</italic> gene is considered a tumor suppressor gene, since mutations have been associated with the occurrence of benign and malignant tumors in neuralcrest-derived tissues. Using reverse transcription polymerase chain reaction (RT-PCR) analyses with primers located in exons 7 and 13, we have identified evidence of alternative splicing in this region of the <italic>NF1</italic> gene. Cloning and sequencing of cDNA allowed the characterization of an isotorm bearing an extra 30 bp sequence between exons 9 and 10a, leading to the insertion of 10 amino acids between residues 420 and 421 of neurofibromin. The insertion is conserved in the mouse. Examination of the pattern of expres sion of this isoform demonstrated a high level of expression in the central nervous system and an absence of expression in all the other normal tissues tested including peripheral nervous tissues derived from the neural crest. Analysis of brain tumors indi cated a reduced expression of the alternative exon in meduiloblastomas and oligodendrogliomas. The results presented here are consistent with tissuespecific expression of this alternative exon which we propose to call exon 9br.</p>
</abstract>
</article-meta>
</front>
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</istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene</title></titleInfo><name type="personal"><namePart type="given">Glséle</namePart><namePart type="family">Danglot</namePart><affiliation>Cytogénetique et Génétique Oncologiques CNRS URA 1158</affiliation><affiliation>To whom correspondence should be addressed</affiliation><affiliation>*To whom correspondence should be addressed</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vinclane</namePart><namePart type="family">Régnler</namePart><affiliation>Cytogénetique et Génétique Oncologiques CNRS URA 1158</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Didier</namePart><namePart type="family">Fauvet</namePart><affiliation>Cytogénetique et Génétique Oncologiques CNRS URA 1158</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gilles</namePart><namePart type="family">Vassal</namePart><affiliation>P´diatrie Institut Gustave Roussy 39 rue Camille Desmoulins 94805 Villejuif cedex</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michéle</namePart><namePart type="family">Kujas</namePart><affiliation>Neuropathologie Hopital Pitié-Salpétrière 73 Boulevard de I'Hôpital, 75013 Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alain</namePart><namePart type="family">Bernheim</namePart><affiliation>Cytogénetique et Génétique Oncologiques CNRS URA 1158</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="other" displayLabel="other" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-7474895G-0">other</genre><originInfo><publisher>Oxford University Press</publisher><dateIssued encoding="w3cdtf">1995-05</dateIssued><copyrightDate encoding="w3cdtf">1995</copyrightDate></originInfo><abstract>The neurofibromatosis 1 gene seems to play essential roles at several different stages of life. During embryogenesis, it is involved in cardiac development while in the adult, neurofibromin (the corresponding protein) is mainly expressed In the nervous system, and therein, essentially in neurons, non-myeiinating Schwann cells and ollgodendrocytes. In addition, the NF1 gene is considered a tumor suppressor gene, since mutations have been associated with the occurrence of benign and malignant tumors in neuralcrest-derived tissues. Using reverse transcription polymerase chain reaction (RT-PCR) analyses with primers located in exons 7 and 13, we have identified evidence of alternative splicing in this region of the NF1 gene. Cloning and sequencing of cDNA allowed the characterization of an isotorm bearing an extra 30 bp sequence between exons 9 and 10a, leading to the insertion of 10 amino acids between residues 420 and 421 of neurofibromin. The insertion is conserved in the mouse. Examination of the pattern of expres sion of this isoform demonstrated a high level of expression in the central nervous system and an absence of expression in all the other normal tissues tested including peripheral nervous tissues derived from the neural crest. Analysis of brain tumors indi cated a reduced expression of the alternative exon in meduiloblastomas and oligodendrogliomas. The results presented here are consistent with tissuespecific expression of this alternative exon which we propose to call exon 9br.</abstract><note type="author-notes">*To whom correspondence should be addressed</note><relatedItem type="host"><titleInfo><title>Human Molecular Genetics</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><subject><topic>REPORTS</topic></subject><identifier type="ISSN">0964-6906</identifier><identifier type="eISSN">1460-2083</identifier><identifier type="PublisherID">hmg</identifier><identifier type="PublisherID-hwp">hmg</identifier><part><date>1995</date><detail type="volume"><caption>vol.</caption><number>4</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>915</start><end>920</end></extent></part></relatedItem><identifier type="istex">DA95137D03F73F59A061F87B5E8DEE63FB6CEBCC</identifier><identifier type="DOI">10.1093/hmg/4.5.915</identifier><identifier type="ArticleID">4.5.915</identifier><accessCondition type="use and reproduction" contentType="copyright">© 1995 Oxford University Press</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-GTWS0RDP-M">oup</recordContentSource><recordOrigin>© 1995 Oxford University Press</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/DA95137D03F73F59A061F87B5E8DEE63FB6CEBCC/metadata/json</uri></json:item></metadata><annexes><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/DA95137D03F73F59A061F87B5E8DEE63FB6CEBCC/annexes/pdf</uri></json:item></annexes><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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