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.

journal_name

Genomics

journal_title

Genomics

authors

Huber R,Crisponi L,Mazzarella R,Chen CN,Su Y,Shizuya H,Chen EY,Cao A,Pilia G

doi

10.1006/geno.1997.4916

subject

Has Abstract

pub_date

1997-10-01 00:00:00

pages

48-58

issue

1

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(97)94916-8

journal_volume

45

pub_type

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