Functional characterization of seven single-nucleotide polymorphisms of the steroid sulfatase gene found in a Japanese population

Jun Matsumoto, Noritaka Ariyoshi, Itsuko Ishii, Mitsukazu Kitada

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)267-272
Number of pages6
JournalJournal of Human Genetics
Volume58
Issue number5
DOIs
Publication statusPublished - May 1 2013
Externally publishedYes

Keywords

  • Japanese
  • SNP
  • STS
  • STS inhibitor
  • breast cancer
  • dehydroepiandrosterone sulfate
  • estrone sulfate
  • steroid sulfatase

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Functional characterization of seven single-nucleotide polymorphisms of the steroid sulfatase gene found in a Japanese population'. Together they form a unique fingerprint.

Cite this