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
Human and Animal Cells BeWo(RCB1644) MCF7(RCB1904) COS-1(RCB0143)