Genomic organization and chromosomal localization of the human sepiapterin reductase gene

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

研究成果: Article

17 引用 (Scopus)

抄録

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.

元の言語English
ページ(範囲)597-602
ページ数6
ジャーナルBiochemical and Biophysical Research Communications
251
発行部数2
DOI
出版物ステータスPublished - 20-10-1998

Fingerprint

sepiapterin reductase
Genes
Cytosine Nucleotides
Aromatic Amino Acids
TATA Box
5' Flanking Region
Biosynthetic Pathways
Consensus Sequence
Chromosomes
Mixed Function Oxygenases
Fluorescence In Situ Hybridization
Nitric Oxide Synthase
Exons
Fluorescence
Polymerase Chain Reaction
Mutation

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

これを引用

Ohye, Tamae ; Hori, Tada Aki ; Katoh, Setsuko ; Nagatsu, Toshiharu ; Ichinose, Hiroshi. / Genomic organization and chromosomal localization of the human sepiapterin reductase gene. :: Biochemical and Biophysical Research Communications. 1998 ; 巻 251, 番号 2. pp. 597-602.
@article{49f72458012d4c2fac8ee45500e0bd9c,
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.",
author = "Tamae Ohye and Hori, {Tada Aki} and Setsuko Katoh and Toshiharu Nagatsu and Hiroshi Ichinose",
year = "1998",
month = "10",
day = "20",
doi = "10.1006/bbrc.1998.9503",
language = "English",
volume = "251",
pages = "597--602",
journal = "Biochemical and Biophysical Research Communications",
issn = "0006-291X",
publisher = "Academic Press Inc.",
number = "2",

}

Genomic organization and chromosomal localization of the human sepiapterin reductase gene. / Ohye, Tamae; Hori, Tada Aki; Katoh, Setsuko; Nagatsu, Toshiharu; Ichinose, Hiroshi.

:: Biochemical and Biophysical Research Communications, 巻 251, 番号 2, 20.10.1998, p. 597-602.

研究成果: Article

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

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.

UR - http://www.scopus.com/inward/record.url?scp=0032552955&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032552955&partnerID=8YFLogxK

U2 - 10.1006/bbrc.1998.9503

DO - 10.1006/bbrc.1998.9503

M3 - Article

C2 - 9792819

AN - SCOPUS:0032552955

VL - 251

SP - 597

EP - 602

JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

SN - 0006-291X

IS - 2

ER -