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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



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 467(2-3): 231-234



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.

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Accession: 011526149

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PMID: 10675544

DOI: 10.1016/s0014-5793(00)01162-5


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