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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 : 003D94 ( Main/Exploration ); précédent : 003D93; suivant : 003D95

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

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 Pilia

Source :

Genomics [ 0888-7543 ] ; 1997.

RBID : ISTEX:CAA0B373649EB514A687E4F6ABE8096070DF856C

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:

https://api.istex.fr/ark:/67375/6H6-XZS7WS89-D/fulltext.pdf

DOI: 10.1006/geno.1997.4916

Affiliations:

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Le document en format XML

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<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>
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<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>
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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

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

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri