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

FEBS Letters

Nakashima, Yoshimitsu¹  Mori, Shinjiro¹  Nakajima, Tamiko¹  Takeshita, Haruo¹  Kishi, Koichiro¹  Yasuda, Toshihiro¹  Mogi, Kouichi¹  Nakazato, Emiko¹ 

[1] Department of Legal Medicine, Gunma University School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma 371-8511, Japan

关键词: Deoxyribonuclease II;    Genetic polymorphism;    Luciferase assay;    Promoter;    Transfection;    Human;    DNase II;    deoxyribonuclease II;   

DOI  :  10.1016/S0014-5793(00)01162-5

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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.

【 授权许可】

Unknown