TY - JOUR
T1 - Genomic organization and chromosomal localization of the human sepiapterin reductase gene
AU - Ohye, Tamae
AU - Hori, Tada Aki
AU - Katoh, Setsuko
AU - Nagatsu, Toshiharu
AU - Ichinose, Hiroshi
N1 - Funding Information:
This work was supported by Grants-in-Aid from the Ministry of Education, Science, Sports, and Culture of Japan, by grants from the Ministry of Health and Welfare of Japan, and by Grants-in-Aid from Fujita Health University.
PY - 1998/10/20
Y1 - 1998/10/20
N2 - 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.
AB - 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.
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U2 - 10.1006/bbrc.1998.9503
DO - 10.1006/bbrc.1998.9503
M3 - Article
C2 - 9792819
AN - SCOPUS:0032552955
SN - 0006-291X
VL - 251
SP - 597
EP - 602
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
IS - 2
ER -