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/Curation ); 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 [États-Unis] ; Laura Crisponi [États-Unis] ; Richard Mazzarella [États-Unis] ; 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.
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DOI: 10.1006/geno.1997.4916
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Chun-Nan Chen<affiliation><mods:affiliation>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</mods:affiliation><wicri:noCountry code="subField">94404</wicri:noCountry></affiliation><affiliation><mods:affiliation>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</mods:affiliation><wicri:noCountry code="subField">94404</wicri:noCountry></affiliation><affiliation><mods:affiliation>Division of Biology, California Institute of Technology, Pasadena, California, 91125</mods:affiliation><wicri:noCountry code="subField">91125</wicri:noCountry></affiliation><affiliation><mods:affiliation>Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404</mods:affiliation><wicri:noCountry code="subField">94404</wicri:noCountry></affiliation><affiliation><mods:affiliation>IRTAM CNR, Universita' di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari, Italy, 09110</mods:affiliation><wicri:noCountry code="subField">09110</wicri:noCountry></affiliation><affiliation><mods:affiliation>IRTAM CNR, Universita' di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari, Italy, 09110</mods:affiliation><wicri:noCountry code="subField">09110</wicri:noCountry></affiliation>Le 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><wicri:noCountry code="subField">94404</wicri:noCountry></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><wicri:noCountry code="subField">09110</wicri:noCountry></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><wicri:noCountry code="subField">09110</wicri:noCountry></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></record>Pour manipuler ce document sous Unix (Dilib)
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