title: The molecular basis for genetic polymorphism of human deoxyribonuclease II (DNase II): a single nucleotide substitution in the promoter region of human DNase II changes the promoter activity.
abstract: Deoxyribonuclease II (DNase II) levels in human vary depending on whether the individual has the DNASE2*H (high) allele or the DNASE2*L (low) allele. We examined the promoter activity of the 5'-flanking region of each of these alleles by transient transfection luciferase assay. DNASE2*H had 5-fold higher promoter activity than DNASE2*L in human hepatoma HepG2 cell. Comparison of the nucleotide sequences of the proximal promoter regions revealed a G to A transition at position -75; G and A residues were assigned to DNASE2*H and *L, respectively. Since no differences were found between the open reading frame sequences of these alleles, it is likely that the A-75G transition causes the allelic difference in the promoter activity of the gene, underlying the genetic polymorphism.
authors.affiliation: Department of Legal Medicine, Gunma University School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yasuda
authors.forename: H
authors.initials: H
authors.lastname: Takeshita
authors.forename: E
authors.initials: E
authors.lastname: Nakazato
authors.forename: T
authors.initials: T
authors.lastname: Nakajima
authors.forename: Y
authors.initials: Y
authors.lastname: Nakashima
authors.forename: S
authors.initials: S
authors.lastname: Mori
authors.forename: K
authors.initials: K
authors.lastname: Mogi
authors.forename: K
authors.initials: K
authors.lastname: Kishi
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004706:Endodeoxyribonucleases / Q000235:genetics*; D017930:Genes, Reporter; D006801:Humans; D008156:Luciferases; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D014162:Transfection; D014407:Tumor Cells, Cultured
chemical_list: D008156:Luciferases; D004706:Endodeoxyribonucleases; C019329:deoxyribonuclease II