Analysis of Exon/Intron Structure and 400 kb of Genomic Sequence Surrounding the 5′-Promoter and 3′-Terminal Ends of the Human Glypican 3 ( GPC3 ) Gene
Identifieur interne : 000399 ( Istex/Corpus ); précédent : 000398; suivant : 000400Analysis of Exon/Intron Structure and 400 kb of Genomic Sequence Surrounding the 5′-Promoter and 3′-Terminal Ends of the Human Glypican 3 ( GPC3 ) Gene
Auteurs : Reid Huber ; Laura Crisponi ; Richard Mazzarella ; Chun-Nan Chen ; Ying Su ; Hiroaki Shizuya ; Ellson Y. Chen ; Antonio Cao ; Giuseppe PiliaSource :
- Genomics [ 0888-7543 ] ; 1997.
English descriptors
- Teeft :
- Accession, Annealing temperature, Bwxd8, Bwxd9, Cdna, Chen, Chromosome, Clone, Exon, Full length, Genbank, Gene, Genet, Geno, Genome, Genomic, Genomic sequence, Genomics, Glypican, Gnmas, Gpc3, Gpc3 gene, Huber, Human dystrophin gene, Human genome, Methods appl, Mutation, Mutational analysis, Nature genet, Nucleic acids, Overgrowth, Overgrowth syndromes, Pilia, Potential exons, Primer, Primer pairs, Repetitive, Repetitive elements, Repetitive sequences, Rnase, Rnase protection analysis, Schlessinger, Sequence analysis, Sequencing, Sgbs, Shotgun sequencing, Syndrome, Transcription.
Abstract
Abstract: GPC3,the gene modified in the Simpson–Golabi–Behmel gigantism/overgrowth syndrome (SGBS), is shown to span more than 500 kb of genomic sequence, with the transcript beginning 197 bp 5′ of the translational start site. The Xq26.1 region containingGPC3as the only known gene has been extended to >900 kb by sequence analysis of flanking BAC clones. Two GC isochores (40.6 and 42.6% GC) are observed at the 5′ and 3′ ends of the locus, with a large repertoire of repetitive sequences that includes an unusual cluster of four L1 elements >92% identical over 2.8 kb. Eight exons, accounting for the full 2.4-kbGPC3cDNA, have been sequenced along with neighboring intronic regions. PCR assays have been developed to amplify each exon and exon/intron junction sequence, to help discriminate instances of SGBS among individuals with overgrowth syndromes and to facilitate mutational analysis of lesions in the gene.
Url:
DOI: 10.1006/geno.1997.4916
Links to Exploration step
ISTEX:CAA0B373649EB514A687E4F6ABE8096070DF856CLe document en format XML
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Chen</name><affiliation><mods:affiliation>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</mods:affiliation></affiliation></author><author><name sortKey="Cao, Antonio" sort="Cao, Antonio" uniqKey="Cao A" first="Antonio" last="Cao">Antonio Cao</name><affiliation><mods:affiliation>IRTAM CNR, Universita' di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari, Italy, 09110</mods:affiliation></affiliation></author><author><name sortKey="Pilia, Giuseppe" sort="Pilia, Giuseppe" uniqKey="Pilia G" first="Giuseppe" last="Pilia">Giuseppe Pilia</name><affiliation><mods:affiliation>IRTAM CNR, Universita' di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari, Italy, 09110</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Genomics</title><title level="j" type="abbrev">YGENO</title><idno type="ISSN">0888-7543</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1997">1997</date><biblScope unit="volume">45</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="48">48</biblScope><biblScope unit="page" to="58">58</biblScope></imprint><idno type="ISSN">0888-7543</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0888-7543</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Accession</term><term>Annealing temperature</term><term>Bwxd8</term><term>Bwxd9</term><term>Cdna</term><term>Chen</term><term>Chromosome</term><term>Clone</term><term>Exon</term><term>Full length</term><term>Genbank</term><term>Gene</term><term>Genet</term><term>Geno</term><term>Genome</term><term>Genomic</term><term>Genomic sequence</term><term>Genomics</term><term>Glypican</term><term>Gnmas</term><term>Gpc3</term><term>Gpc3 gene</term><term>Huber</term><term>Human dystrophin gene</term><term>Human genome</term><term>Methods appl</term><term>Mutation</term><term>Mutational analysis</term><term>Nature genet</term><term>Nucleic acids</term><term>Overgrowth</term><term>Overgrowth syndromes</term><term>Pilia</term><term>Potential exons</term><term>Primer</term><term>Primer pairs</term><term>Repetitive</term><term>Repetitive elements</term><term>Repetitive sequences</term><term>Rnase</term><term>Rnase protection analysis</term><term>Schlessinger</term><term>Sequence analysis</term><term>Sequencing</term><term>Sgbs</term><term>Shotgun sequencing</term><term>Syndrome</term><term>Transcription</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abstract: GPC3,the gene modified in the Simpson–Golabi–Behmel gigantism/overgrowth syndrome (SGBS), is shown to span more than 500 kb of genomic sequence, with the transcript beginning 197 bp 5′ of the translational start site. The Xq26.1 region containingGPC3as the only known gene has been extended to >900 kb by sequence analysis of flanking BAC clones. Two GC isochores (40.6 and 42.6% GC) are observed at the 5′ and 3′ ends of the locus, with a large repertoire of repetitive sequences that includes an unusual cluster of four L1 elements >92% identical over 2.8 kb. Eight exons, accounting for the full 2.4-kbGPC3cDNA, have been sequenced along with neighboring intronic regions. PCR assays have been developed to amplify each exon and exon/intron junction sequence, to help discriminate instances of SGBS among individuals with overgrowth syndromes and to facilitate mutational analysis of lesions in the gene.</div></front></TEI><istex><corpusName>elsevier</corpusName><keywords><teeft><json:string>exon</json:string><json:string>gpc3</json:string><json:string>cdna</json:string><json:string>primer</json:string><json:string>pilia</json:string><json:string>sequencing</json:string><json:string>clone</json:string><json:string>chromosome</json:string><json:string>schlessinger</json:string><json:string>bwxd9</json:string><json:string>genet</json:string><json:string>sgbs</json:string><json:string>gnmas</json:string><json:string>geno</json:string><json:string>bwxd8</json:string><json:string>genome</json:string><json:string>gpc3 gene</json:string><json:string>genomic</json:string><json:string>accession</json:string><json:string>repetitive</json:string><json:string>mutation</json:string><json:string>overgrowth</json:string><json:string>glypican</json:string><json:string>repetitive sequences</json:string><json:string>rnase</json:string><json:string>genomics</json:string><json:string>repetitive elements</json:string><json:string>genbank</json:string><json:string>huber</json:string><json:string>human genome</json:string><json:string>sequence analysis</json:string><json:string>nucleic acids</json:string><json:string>transcription</json:string><json:string>gene</json:string><json:string>overgrowth syndromes</json:string><json:string>nature genet</json:string><json:string>shotgun sequencing</json:string><json:string>annealing temperature</json:string><json:string>genomic sequence</json:string><json:string>syndrome</json:string><json:string>potential exons</json:string><json:string>methods appl</json:string><json:string>primer pairs</json:string><json:string>human dystrophin gene</json:string><json:string>mutational analysis</json:string><json:string>full length</json:string><json:string>rnase protection analysis</json:string><json:string>chen</json:string></teeft></keywords><author><json:item><name>Reid Huber</name><affiliations><json:string>Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, 63110</json:string></affiliations></json:item><json:item><name>Laura Crisponi</name><affiliations><json:string>Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, 63110</json:string></affiliations></json:item><json:item><name>Richard Mazzarella</name><affiliations><json:string>Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, 63110</json:string></affiliations></json:item><json:item><name>Chun-Nan Chen</name><affiliations><json:string>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</json:string></affiliations></json:item><json:item><name>Ying Su</name><affiliations><json:string>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</json:string></affiliations></json:item><json:item><name>Hiroaki Shizuya</name><affiliations><json:string>Division of Biology, California Institute of Technology, Pasadena, California, 91125</json:string></affiliations></json:item><json:item><name>Ellson Y. Chen</name><affiliations><json:string>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</json:string></affiliations></json:item><json:item><name>Antonio Cao</name><affiliations><json:string>IRTAM CNR, Universita' di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari, Italy, 09110</json:string></affiliations></json:item><json:item><name>Giuseppe Pilia</name><affiliations><json:string>IRTAM CNR, Universita' di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari, Italy, 09110</json:string></affiliations></json:item></author><arkIstex>ark:/67375/6H6-XZS7WS89-D</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>Full-length article</json:string></originalGenre><abstract>Abstract: GPC3,the gene modified in the Simpson–Golabi–Behmel gigantism/overgrowth syndrome (SGBS), is shown to span more than 500 kb of genomic sequence, with the transcript beginning 197 bp 5′ of the translational start site. The Xq26.1 region containingGPC3as the only known gene has been extended to >900 kb by sequence analysis of flanking BAC clones. Two GC isochores (40.6 and 42.6% GC) are observed at the 5′ and 3′ ends of the locus, with a large repertoire of repetitive sequences that includes an unusual cluster of four L1 elements >92% identical over 2.8 kb. Eight exons, accounting for the full 2.4-kbGPC3cDNA, have been sequenced along with neighboring intronic regions. PCR assays have been developed to amplify each exon and exon/intron junction sequence, to help discriminate instances of SGBS among individuals with overgrowth syndromes and to facilitate mutational analysis of lesions in the gene.</abstract><qualityIndicators><score>8.704</score><pdfWordCount>6313</pdfWordCount><pdfCharCount>38071</pdfCharCount><pdfVersion>1.2</pdfVersion><pdfPageCount>11</pdfPageCount><pdfPageSize>548 x 737 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>142</abstractWordCount><abstractCharCount>917</abstractCharCount><keywordCount>0</keywordCount></qualityIndicators><title>Analysis of Exon/Intron Structure and 400 kb of Genomic Sequence Surrounding the 5′-Promoter and 3′-Terminal Ends of the Human Glypican 3 ( GPC3 ) Gene</title><pmid><json:string>9339360</json:string></pmid><pii><json:string>S0888-7543(97)94916-8</json:string></pii><genre><json:string>research-article</json:string></genre><host><title>Genomics</title><language><json:string>unknown</json:string></language><publicationDate>1997</publicationDate><issn><json:string>0888-7543</json:string></issn><pii><json:string>S0888-7543(00)X0092-4</json:string></pii><volume>45</volume><issue>1</issue><pages><first>48</first><last>58</last></pages><genre><json:string>journal</json:string></genre></host><namedEntities><unitex><date><json:string>09-04-97</json:string><json:string>1997</json:string></date><geogName></geogName><orgName><json:string>Human Genome Center</json:string><json:string>Washington University</json:string><json:string>Oak Ridge National Laboratory</json:string><json:string>Division of Biology</json:string><json:string>Clontech</json:string><json:string>MathWorks, Inc.</json:string><json:string>Lawrence Livermore National Laboratories</json:string><json:string>Advanced Center for Genetic Technology</json:string><json:string>California Institute of Technology, Pasadena, California</json:string><json:string>Intron Organization of Glypican</json:string><json:string>Grant GM07067</json:string><json:string>Grant CA72548</json:string></orgName><orgName_funder><json:string>Grant GM07067</json:string><json:string>Grant CA72548</json:string></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Giuseppe Pilia</json:string><json:string>C. Hott</json:string><json:string>Chun-Nan Chen</json:string><json:string>The</json:string><json:string>Via Jenner</json:string><json:string>C. Membranes</json:string><json:string>Y. Chen</json:string><json:string>Antonio Cao</json:string><json:string>Richard Mazzarella</json:string><json:string>Ying Su</json:string><json:string>D. Schlessinger</json:string></persName><placeName><json:string>Cagliari</json:string><json:string>Foster City</json:string><json:string>Cambridge</json:string><json:string>Italy</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Jurka et al., 1996</json:string><json:string>Bettecken et al., 1992</json:string><json:string>Srivastava et al., 1992</json:string><json:string>Lakich et al., 1993</json:string><json:string>Hillier and Green, 1991</json:string><json:string>David, 1993</json:string><json:string>Pilia et al. (1996a)</json:string><json:string>Veugelers et al., 1997</json:string><json:string>Uberbacher and Mural, 1991</json:string><json:string>Chen et al., 1993</json:string><json:string>Kere et al. (1992)</json:string><json:string>Chen et al., 1996b</json:string><json:string>Shermoen and O’Farrell, 1991</json:string><json:string>Shizuya et al., 1992</json:string><json:string>Blanchard et al., 1993</json:string><json:string>Stipp et al., 1994</json:string><json:string>Blanchard et al. (1993)</json:string><json:string>Altschul et al., 1990</json:string><json:string>Hughes-Benzie et al., 1992</json:string><json:string>Ma et al., 1996</json:string><json:string>Veugelers et al. (1997)</json:string><json:string>Pilia et al., 1996b</json:string><json:string>Rouyer et al., 1990</json:string><json:string>Nakato et al., 1995</json:string><json:string>Chen et al., 1993, 1996a</json:string><json:string>Hoovers et al., 1995</json:string><json:string>Tennyson et al., 1995</json:string><json:string>Kaplan et al., 1991</json:string><json:string>Cohen, 1989</json:string><json:string>Ucker et al., 1984</json:string><json:string>Zoubak et al., 1996</json:string><json:string>Pilia et al., 1996a</json:string><json:string>Faisst and Meyer, 1992</json:string><json:string>Karim et al., 1991</json:string><json:string>Chen et al., 1991, 1996a</json:string><json:string>Mermer et al., 1987</json:string><json:string>Smale et al., 1989</json:string><json:string>Sun et al., 1984</json:string><json:string>Apte and Siebert, 1993</json:string><json:string>Huber et al.</json:string><json:string>Pilia et al., 1996</json:string><json:string>Mazzarella and Schlessinger (1997)</json:string><json:string>Ioannou et al., 1994</json:string><json:string>Pearce et al., 1993</json:string><json:string>Pilia et al. (1996a, b)</json:string><json:string>Antequera and Bird, 1993</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/6H6-XZS7WS89-D</json:string></ark><categories><wos><json:string>1 - science</json:string><json:string>2 - genetics & heredity</json:string><json:string>2 - biotechnology & applied microbiology</json:string></wos><scienceMetrix><json:string>1 - health sciences</json:string><json:string>2 - biomedical research</json:string><json:string>3 - genetics & heredity</json:string></scienceMetrix><scopus><json:string>1 - Life Sciences</json:string><json:string>2 - Biochemistry, Genetics and Molecular Biology</json:string><json:string>3 - Genetics</json:string></scopus><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string><json:string>4 - genetique medicale</json:string></inist></categories><publicationDate>1997</publicationDate><copyrightDate>1997</copyrightDate><doi><json:string>10.1006/geno.1997.4916</json:string></doi><id>CAA0B373649EB514A687E4F6ABE8096070DF856C</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/ark:/67375/6H6-XZS7WS89-D/fulltext.pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/ark:/67375/6H6-XZS7WS89-D/bundle.zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/ark:/67375/6H6-XZS7WS89-D/fulltext.tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Analysis of Exon/Intron Structure and 400 kb of Genomic Sequence Surrounding the 5′-Promoter and 3′-Terminal Ends of the Human Glypican 3 ( GPC3 ) Gene</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher scheme="https://scientific-publisher.data.istex.fr">ELSEVIER</publisher><availability><licence><p>©1997 Academic Press</p></licence><p scheme="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-HKKZVM7B-M">elsevier</p></availability><date>1997</date></publicationStmt><notesStmt><note type="research-article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</note><note type="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note><note>Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession Nos. AF003529 and AC002420.</note><note type="content">Section title: Regular Article</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Analysis of Exon/Intron Structure and 400 kb of Genomic Sequence Surrounding the 5′-Promoter and 3′-Terminal Ends of the Human Glypican 3 ( GPC3 ) Gene</title><author xml:id="author-0000"><persName><forename type="first">Reid</forename><surname>Huber</surname></persName><affiliation>Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, 63110</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Laura</forename><surname>Crisponi</surname></persName><affiliation>Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, 63110</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Richard</forename><surname>Mazzarella</surname></persName><affiliation>Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, 63110</affiliation></author><author xml:id="author-0003"><persName><forename type="first">Chun-Nan</forename><surname>Chen</surname></persName><affiliation>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</affiliation></author><author xml:id="author-0004"><persName><forename type="first">Ying</forename><surname>Su</surname></persName><affiliation>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</affiliation></author><author xml:id="author-0005"><persName><forename type="first">Hiroaki</forename><surname>Shizuya</surname></persName><affiliation>Division of Biology, California Institute of Technology, Pasadena, California, 91125</affiliation></author><author xml:id="author-0006"><persName><forename type="first">Ellson Y.</forename><surname>Chen</surname></persName><affiliation>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</affiliation></author><author xml:id="author-0007"><persName><forename type="first">Antonio</forename><surname>Cao</surname></persName><affiliation>IRTAM CNR, Universita' di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari, Italy, 09110</affiliation></author><author xml:id="author-0008"><persName><forename type="first">Giuseppe</forename><surname>Pilia</surname></persName><affiliation>IRTAM CNR, Universita' di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari, Italy, 09110</affiliation></author><idno type="istex">CAA0B373649EB514A687E4F6ABE8096070DF856C</idno><idno type="ark">ark:/67375/6H6-XZS7WS89-D</idno><idno type="DOI">10.1006/geno.1997.4916</idno><idno type="PII">S0888-7543(97)94916-8</idno></analytic><monogr><title level="j">Genomics</title><title level="j" type="abbrev">YGENO</title><idno type="pISSN">0888-7543</idno><idno type="PII">S0888-7543(00)X0092-4</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1997"></date><biblScope unit="volume">45</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="48">48</biblScope><biblScope unit="page" to="58">58</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1997</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Abstract: GPC3,the gene modified in the Simpson–Golabi–Behmel gigantism/overgrowth syndrome (SGBS), is shown to span more than 500 kb of genomic sequence, with the transcript beginning 197 bp 5′ of the translational start site. The Xq26.1 region containingGPC3as the only known gene has been extended to >900 kb by sequence analysis of flanking BAC clones. Two GC isochores (40.6 and 42.6% GC) are observed at the 5′ and 3′ ends of the locus, with a large repertoire of repetitive sequences that includes an unusual cluster of four L1 elements >92% identical over 2.8 kb. Eight exons, accounting for the full 2.4-kbGPC3cDNA, have been sequenced along with neighboring intronic regions. PCR assays have been developed to amplify each exon and exon/intron junction sequence, to help discriminate instances of SGBS among individuals with overgrowth syndromes and to facilitate mutational analysis of lesions in the gene.</p></abstract></profileDesc><revisionDesc><change when="1997">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/ark:/67375/6H6-XZS7WS89-D/fulltext.txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier, elements deleted: tail"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 4.5.2//EN//XML" URI="art452.dtd" name="istex:docType"></istex:docType><istex:document><converted-article version="4.5.2" docsubtype="fla" xml:lang="en"><item-info><jid>YGENO</jid><aid>94916</aid><ce:pii>S0888-7543(97)94916-8</ce:pii><ce:doi>10.1006/geno.1997.4916</ce:doi><ce:copyright type="full-transfer" year="1997">Academic Press</ce:copyright></item-info><head><ce:article-footnote><ce:label>☆</ce:label><ce:note-para>Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession Nos. AF003529 and AC002420.</ce:note-para></ce:article-footnote><ce:dochead><ce:textfn>Regular Article</ce:textfn></ce:dochead><ce:title>Analysis of Exon/Intron Structure and 400 kb of Genomic Sequence Surrounding the 5′-Promoter and 3′-Terminal Ends of the Human Glypican 3 (<ce:italic>GPC3</ce:italic>) Gene</ce:title><ce:author-group><ce:author><ce:given-name>Reid</ce:given-name><ce:surname>Huber</ce:surname><ce:cross-ref refid="GE974916A1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="GE974916FN1"><ce:sup>1</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Laura</ce:given-name><ce:surname>Crisponi</ce:surname><ce:cross-ref refid="GE974916A1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="GE974916A2"><ce:sup>b</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Richard</ce:given-name><ce:surname>Mazzarella</ce:surname><ce:cross-ref refid="GE974916A1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Chun-Nan</ce:given-name><ce:surname>Chen</ce:surname><ce:cross-ref refid="GE974916A3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Ying</ce:given-name><ce:surname>Su</ce:surname><ce:cross-ref refid="GE974916A3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Hiroaki</ce:given-name><ce:surname>Shizuya</ce:surname><ce:cross-ref refid="GE974916A4"><ce:sup>d</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Ellson Y.</ce:given-name><ce:surname>Chen</ce:surname><ce:cross-ref refid="GE974916A3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Antonio</ce:given-name><ce:surname>Cao</ce:surname><ce:cross-ref refid="GE974916A2"><ce:sup>b</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Giuseppe</ce:given-name><ce:surname>Pilia</ce:surname><ce:cross-ref refid="GE974916A2"><ce:sup>b</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="GE974916A1"><ce:label>a</ce:label><ce:textfn>Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, 63110</ce:textfn></ce:affiliation><ce:affiliation id="GE974916A2"><ce:label>b</ce:label><ce:textfn>IRTAM CNR, Universita' di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari, Italy, 09110</ce:textfn></ce:affiliation><ce:affiliation id="GE974916A3"><ce:label>c</ce:label><ce:textfn>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</ce:textfn></ce:affiliation><ce:affiliation id="GE974916A4"><ce:label>d</ce:label><ce:textfn>Division of Biology, California Institute of Technology, Pasadena, California, 91125</ce:textfn></ce:affiliation><ce:footnote id="GE974916FN1"><ce:label>1</ce:label><ce:note-para>To whom correspondence should be addressed. Telephone: (314) 362-2760. Fax: (314) 362-3203. E-mail: huber@borcim.wustl.edu.</ce:note-para></ce:footnote></ce:author-group><ce:date-received day="18" month="3" year="1997"></ce:date-received><ce:date-accepted day="22" month="7" year="1997"></ce:date-accepted><ce:abstract><ce:section-title>Abstract</ce:section-title><ce:abstract-sec><ce:simple-para><ce:italic>GPC3,</ce:italic>the gene modified in the Simpson–Golabi–Behmel gigantism/overgrowth syndrome (SGBS), is shown to span more than 500 kb of genomic sequence, with the transcript beginning 197 bp 5′ of the translational start site. The Xq26.1 region containing<ce:italic>GPC3</ce:italic>as the only known gene has been extended to >900 kb by sequence analysis of flanking BAC clones. Two GC isochores (40.6 and 42.6% GC) are observed at the 5′ and 3′ ends of the locus, with a large repertoire of repetitive sequences that includes an unusual cluster of four L1 elements >92% identical over 2.8 kb. Eight exons, accounting for the full 2.4-kb<ce:italic>GPC3</ce:italic>cDNA, have been sequenced along with neighboring intronic regions. PCR assays have been developed to amplify each exon and exon/intron junction sequence, to help discriminate instances of SGBS among individuals with overgrowth syndromes and to facilitate mutational analysis of lesions in the gene.</ce:simple-para></ce:abstract-sec></ce:abstract></head></converted-article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Analysis of Exon/Intron Structure and 400 kb of Genomic Sequence Surrounding the 5′-Promoter and 3′-Terminal Ends of the Human Glypican 3 ( GPC3 ) Gene</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Analysis of Exon/Intron Structure and 400 kb of Genomic Sequence Surrounding the 5′-Promoter and 3′-Terminal Ends of the Human Glypican 3 (</title></titleInfo><name type="personal"><namePart type="given">Reid</namePart><namePart type="family">Huber</namePart><affiliation>Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, 63110</affiliation><description>To whom correspondence should be addressed. Telephone: (314) 362-2760. Fax: (314) 362-3203. E-mail: huber@borcim.wustl.edu.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laura</namePart><namePart type="family">Crisponi</namePart><affiliation>Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, 63110</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Richard</namePart><namePart type="family">Mazzarella</namePart><affiliation>Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, 63110</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chun-Nan</namePart><namePart type="family">Chen</namePart><affiliation>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ying</namePart><namePart type="family">Su</namePart><affiliation>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hiroaki</namePart><namePart type="family">Shizuya</namePart><affiliation>Division of Biology, California Institute of Technology, Pasadena, California, 91125</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ellson Y.</namePart><namePart type="family">Chen</namePart><affiliation>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Antonio</namePart><namePart type="family">Cao</namePart><affiliation>IRTAM CNR, Universita' di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari, Italy, 09110</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giuseppe</namePart><namePart type="family">Pilia</namePart><affiliation>IRTAM CNR, Universita' di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari, Italy, 09110</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1997</dateIssued><copyrightDate encoding="w3cdtf">1997</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><abstract lang="en">Abstract: GPC3,the gene modified in the Simpson–Golabi–Behmel gigantism/overgrowth syndrome (SGBS), is shown to span more than 500 kb of genomic sequence, with the transcript beginning 197 bp 5′ of the translational start site. The Xq26.1 region containingGPC3as the only known gene has been extended to >900 kb by sequence analysis of flanking BAC clones. Two GC isochores (40.6 and 42.6% GC) are observed at the 5′ and 3′ ends of the locus, with a large repertoire of repetitive sequences that includes an unusual cluster of four L1 elements >92% identical over 2.8 kb. Eight exons, accounting for the full 2.4-kbGPC3cDNA, have been sequenced along with neighboring intronic regions. PCR assays have been developed to amplify each exon and exon/intron junction sequence, to help discriminate instances of SGBS among individuals with overgrowth syndromes and to facilitate mutational analysis of lesions in the gene.</abstract><note>Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession Nos. AF003529 and AC002420.</note><note type="content">Section title: Regular Article</note><relatedItem type="host"><titleInfo><title>Genomics</title></titleInfo><titleInfo type="abbreviated"><title>YGENO</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><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1997</dateIssued></originInfo><identifier type="ISSN">0888-7543</identifier><identifier type="PII">S0888-7543(00)X0092-4</identifier><part><date>1997</date><detail type="volume"><number>45</number><caption>vol.</caption></detail><detail type="issue"><number>1</number><caption>no.</caption></detail><extent unit="issue-pages"><start>1</start><end>242</end></extent><extent unit="pages"><start>48</start><end>58</end></extent></part></relatedItem><identifier type="istex">CAA0B373649EB514A687E4F6ABE8096070DF856C</identifier><identifier type="ark">ark:/67375/6H6-XZS7WS89-D</identifier><identifier type="DOI">10.1006/geno.1997.4916</identifier><identifier type="PII">S0888-7543(97)94916-8</identifier><accessCondition type="use and reproduction" contentType="copyright">©1997 Academic Press</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-HKKZVM7B-M">elsevier</recordContentSource><recordOrigin>Academic Press, ©1997</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/ark:/67375/6H6-XZS7WS89-D/record.json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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