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 |
|