Six novel single nucleotide polymorphisms of the steroid sulfatase gene in a Japanese population

Jun Matsumoto, Noritaka Ariyoshi, Itsuko Ishii, Mitsukazu Kitada

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Steroid sulfatase (STS) is a microsomal enzyme responsible for the formation of 3β-hydroxysteroid from the corresponding sulfate conjugates. Screening of all exons, exon-intron boundaries and the 5'-flanking region of the STS gene in 93 healthy Japanese individuals was carried out. Among seven single nucleotide polymorphisms (SNPs) identified in this study, six were novel, including one in the untranslated region of exon 1, one in exon 10, and four in the 5'-flanking region. The nonsynonymous SNP (1647G>A) in exon 10 caused amino-acid replacement, Val476Met, with a frequency of 0.014. The allele frequencies of the other SNPs were 0.071 for 155G>A, 0.007 for -21G>A, 0.014 for -1117T>C, 0.106 for -1588G>A, 0.007 for -2427G>A and 0.007 for -2837T>C.

Original languageEnglish
Pages (from-to)403-407
Number of pages5
JournalDrug Metabolism and Pharmacokinetics
Volume25
Issue number4
DOIs
Publication statusPublished - 2010
Externally publishedYes

Fingerprint

Steryl-Sulfatase
Single Nucleotide Polymorphism
Exons
Population
Genes
5' Flanking Region
Hydroxysteroids
Untranslated Regions
Gene Frequency
Introns
Sulfates
Amino Acids
Enzymes

Keywords

  • Deconjugate enzyme
  • Estrogen
  • Japanesereferences
  • Nonsynonymous SNP
  • Steroid sulfatase

ASJC Scopus subject areas

  • Pharmacology (medical)
  • Pharmacology
  • Pharmaceutical Science

Cite this

Six novel single nucleotide polymorphisms of the steroid sulfatase gene in a Japanese population. / Matsumoto, Jun; Ariyoshi, Noritaka; Ishii, Itsuko; Kitada, Mitsukazu.

In: Drug Metabolism and Pharmacokinetics, Vol. 25, No. 4, 2010, p. 403-407.

Research output: Contribution to journalArticle

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