Genomic organization and chromosomal localization of the human sepiapterin reductase gene

Tamae Ohye, Tada Aki Hori, Setsuko Katoh, Toshiharu Nagatsu, Hiroshi Ichinose

Research output: Contribution to journalArticlepeer-review

17 Citations (Scopus)

Abstract

Sepiapterin reductase (SPR) catalyzes the final step of the biosynthetic pathway of tetrahydrobiopterin, which is an essential cofactor for aromatic amino acid hydroxylases and nitric oxide synthases. To aid the analysis of any possible human diseases caused by mutations in SPR, we have cloned and characterized the human SPR gene. The gene is composed of three exons spanning approximately 4 kilobases. The transcriptional starting point was determined around the cytosine nucleotide at position -81 by primer extension and RT-PCR analyses. There was no typical TATA-box within 300 bp from the transcriptional starting point. We found the Sp1-binding consensus sequence in the 5'-flanking region. The human SPR gene was mapped to chromosome band 2p13 by fluorescence in situ hybridization.

Original languageEnglish
Pages (from-to)597-602
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume251
Issue number2
DOIs
Publication statusPublished - 20-10-1998

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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