Reference - Detail
| RRC ID | 68752 |
|---|---|
| Author | Matsumoto J, Ariyoshi N, Ishii I, Kitada M. |
| Title | Functional characterization of seven single-nucleotide polymorphisms of the steroid sulfatase gene found in a Japanese population. |
| Journal | J Hum Genet |
| Abstract |
Steroid sulfatase (STS) is an enzyme that hydrolyzes steroid sulfates such as dehydroepiandrosterone sulfate (DHEA-S) and estrone sulfate. STS has a key role in the synthesis of steroid hormones in placenta and breast cancer cells. Recently, we have identified six novel single-nucleotide polymorphisms (SNPs) and one nonsynonymous SNP (V476M) in the STS gene in a Japanese population. To clarify the effects of SNPs in the 5'-flanking region or 5' untranslated region on transcriptional activity, a reporter gene assay was conducted. In addition, DHEA-S desulfatase activity of a variant (Met at codon 476)-type enzyme was compared with that of the wild (Wd)-type enzyme in COS-1 cells. The transcriptional activities were significantly decreased (155A) and increased (-2837A and -1588C) in MCF-7 cells. On the other hand, no significant difference was found in expression levels of STS protein or specific activities of DHEA-S desulfation between Wd and the variant enzymes. This is the first report on the effects of various SNPs in the STS gene detected in Japanese healthy subjects. |
| Volume | 58(5) |
| Pages | 267-72 |
| Published | 2013-5-1 |
| DOI | 10.1038/jhg.2013.12 |
| PII | jhg201312 |
| PMID | 23466819 |
| MeSH | 5' Flanking Region Animals Asian People / genetics* COS Cells Catalysis Chlorocebus aethiops Enzyme Activation Gene Expression Gene Expression Regulation Gene Order Humans Japan MCF-7 Cells Polymorphism, Single Nucleotide* RNA, Messenger / genetics Steryl-Sulfatase / genetics* Steryl-Sulfatase / metabolism Transcriptional Activation |
| IF | 2.831 |
| Resource | |
| Human and Animal Cells | BeWo(RCB1644) MCF7(RCB1904) COS-1(RCB0143) |