title: Characterization of DNA polymorphisms in the E-cadherin gene (CDH1) promoter region.
abstract: E-cadherin is a tumor suppressor involved in epithelial cell-cell interactions. Some of the nucleotide variation in the 5'-promoter region of the gene influences transcriptional efficiency. We investigated single nucleotide polymorphisms (SNPs) in the promoter-exon 1 region of the E-cadherin gene (CDH1) using fluorescence-based PCR-single-strand conformation polymorphism (PCR-SSCP) analysis. We detected four kinds of polymorphisms between nucleotides -516 and +12, numbering from the translation initiation site. SNPs were localized at -472G-->GA, -288T-->deltaT, -285C-->A, and -54G-->C. Variants -472GA and -285A were frequently found in controls, but the -288deltaT and -54C are rare variants. We examined the effects of these variants on transcription. The activity of promoters containing the variants -288deltaT, -285A, or -54C was lower than the activity of promoters with the major variants, as assayed by a luciferase reporter gene. Variants -472G and -472GA displayed the same promoter activity. The decreased transcriptional activity from variant promoters affects the expression of E-cadherin.
authors: Second Department of Internal Medicine, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, Japan.
authors: Akihiro
authors: A
authors: Nakamura
authors: Tomoe
authors: T
authors: Shimazaki
authors: Kazuhiro
authors: K
authors: Kaneko
authors: Minoru
authors: M
authors: Shibata
authors: Takuya
authors: T
authors: Matsumura
authors: Maho
authors: M
authors: Nagai
authors: Reiko
authors: R
authors: Makino
authors: Keiji
authors: K
authors: Mitamura
mesh_terms: D000483:Alleles; D001483:Base Sequence; D015820:Cadherins / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: D015820:Cadherins; D017931:DNA Primers; D004247:DNA