| RRC ID |
19151
|
| 著者 |
Ohsaka Y, Yogosawa S, Nakanishi R, Sakai T, Nishino H.
|
| タイトル |
Polymorphisms in promoter sequences of the p15 ( INK4B ) and PTEN genes of normal Japanese individuals.
|
| ジャーナル |
Biochem Genet
|
| Abstract |
Gene promoter regions of p15(INK4B), a cyclin-dependent kinase inhibitor, and phosphatase and tensin homolog (PTEN), a dual-function protein and lipid phosphatase, interact with regulatory factors for gene transcription and methylation. Normal individuals exhibit sequence polymorphisms in these regulatory genes. We isolated genomic DNA from whole blood of healthy Japanese individuals and sequenced promoter regions of the p15 ( INK4B ) and PTEN genes. We also examined the influence of polymorphisms on promoter activity in several cell lines. We identified polymorphisms at positions -699, -394, and -242 and an insertion at position -320 in the p15 ( INK4B ) gene and a polymorphism at position -1142 in the PTEN gene. Reporter gene analysis revealed that these polymorphisms influenced transcriptional regulation in their cell lines. Our results indicate for the first time that promoter sequences of the p15 ( INK4B ) and PTEN genes differ among normal Japanese individuals and that promoter polymorphisms can influence gene transcription.
|
| 巻・号 |
48(11-12)
|
| ページ |
970-86
|
| 公開日 |
2010-12-1
|
| DOI |
10.1007/s10528-010-9379-3
|
| PMID |
20862607
|
| MeSH |
Base Sequence / genetics
Cell Line, Transformed / chemistry
Cyclin-Dependent Kinase Inhibitor p15 / blood
Cyclin-Dependent Kinase Inhibitor p15 / chemistry
Cyclin-Dependent Kinase Inhibitor p15 / genetics*
Cyclin-Dependent Kinase Inhibitor p15 / metabolism*
DNA / blood
DNA / genetics
Gene Expression Regulation*
Genes, Reporter
Humans
Japan
Luciferases / analysis
Molecular Sequence Data
Mutation / genetics
PTEN Phosphohydrolase / blood
PTEN Phosphohydrolase / chemistry
PTEN Phosphohydrolase / genetics*
PTEN Phosphohydrolase / metabolism*
Polymorphism, Genetic*
Promoter Regions, Genetic*
Transcription Factors / metabolism
|
| IF |
2.027
|
| 引用数 |
3
|
|
WOS 分野
|
GENETICS & HEREDITY
BIOCHEMISTRY & MOLECULAR BIOLOGY
|
| リソース情報 |
| ヒト・動物細胞 |
T98G(RCB1954) |
