title: Genomic organization and chromosomal localization of the human sepiapterin reductase gene.
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.
authors.affiliation: Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Toyoake, 470-1192, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ohye
authors.forename: T A
authors.initials: TA
authors.lastname: Hori
authors.forename: S
authors.initials: S
authors.lastname: Katoh
authors.forename: T
authors.initials: T
authors.lastname: Nagatsu
authors.forename: H
authors.initials: H
authors.lastname: Ichinose
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D016384:Consensus Sequence; D017931:DNA Primers; D005091:Exons; D015698:Genomic Library; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D015183:Restriction Mapping; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016329:Sp1 Transcription Factor / Q000378:metabolism; D016385:TATA Box; D014158:Transcription, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D017931:DNA Primers; D016329:Sp1 Transcription Factor; D000429:Alcohol Oxidoreductases; C022630:sepiapterin reductase