RRC ID |
72910
|
Author |
Ohye T, Hori TA, Katoh S, Nagatsu T, Ichinose H.
|
Title |
Genomic organization and chromosomal localization of the human sepiapterin reductase gene.
|
Journal |
Biochem Biophys Res Commun
|
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.
|
Volume |
251(2)
|
Pages |
597-602
|
Published |
1998-10-20
|
DOI |
10.1006/bbrc.1998.9503
|
PII |
S0006-291X(98)99503-1
|
PMID |
9792819
|
MeSH |
Alcohol Oxidoreductases / genetics*
Amino Acid Sequence
Base Sequence
Binding Sites
Chromosome Mapping
Chromosomes, Human, Pair 2*
Consensus Sequence
DNA Primers
Exons
Genomic Library
Humans
In Situ Hybridization, Fluorescence
Molecular Sequence Data
Restriction Mapping
Reverse Transcriptase Polymerase Chain Reaction
Sp1 Transcription Factor / metabolism
TATA Box
Transcription, Genetic
Tumor Cells, Cultured
|
IF |
2.985
|
Resource |
Human and Animal Cells |
Hep G2(RCB0459) |