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.
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 containing GPC3 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 GPC3 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.
authors.affiliation: Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri 63110, USA. huber@borcim.wustl.edu
authors.forename: R
authors.initials: R
authors.lastname: Huber
authors.forename: L
authors.initials: L
authors.lastname: Crisponi
authors.forename: R
authors.initials: R
authors.lastname: Mazzarella
authors.forename: C N
authors.initials: CN
authors.lastname: Chen
authors.forename: Y
authors.initials: Y
authors.lastname: Su
authors.forename: H
authors.initials: H
authors.lastname: Shizuya
authors.forename: E Y
authors.initials: EY
authors.lastname: Chen
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: G
authors.initials: G
authors.lastname: Pilia
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D018076:DNA, Complementary; D005091:Exons; D053673:Glypicans; D019812:Heparan Sulfate Proteoglycans; D006497:Heparan Sulfate / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D011509:Proteoglycans / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D014960:X Chromosome
chemical_list: D018076:DNA, Complementary; D053673:Glypicans; D019812:Heparan Sulfate Proteoglycans; D006497:Heparan Sulfate; D011509:Proteoglycans