RRC ID 39601
Author Yasuda T, Takeshita H, Nakazato E, Nakajima T, Nakashima Y, Mori S, Mogi K, Kishi K.
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.
Journal FEBS Lett
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.
Volume 467(2-3)
Pages 231-4
Published 2000-2-11
DOI 10.1016/s0014-5793(00)01162-5
PII S0014-5793(00)01162-5
PMID 10675544
MeSH Alleles* Base Sequence Endodeoxyribonucleases / genetics* Genes, Reporter Humans Luciferases Molecular Sequence Data Polymorphism, Single Nucleotide* Promoter Regions, Genetic Transfection Tumor Cells, Cultured
IF 3.057
Times Cited 15
WOS Category BIOPHYSICS BIOCHEMISTRY & MOLECULAR BIOLOGY CELL BIOLOGY
Resource
Human and Animal Cells