Ohye T, Hori T A, Katoh S, Nagatsu T, Ichinose H
Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Toyoake, 470-1192, Japan.
Biochem Biophys Res Commun. 1998 Oct 20;251(2):597-602. doi: 10.1006/bbrc.1998.9503.
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.
蝶呤还原酶（SPR）催化四氢生物蝶呤生物合成途径的最后一步，四氢生物蝶呤是芳香族氨基酸羟化酶和一氧化氮合酶的必需辅因子。为了有助于分析由SPR突变引起的任何可能的人类疾病，我们克隆并鉴定了人类SPR基因。该基因由三个外显子组成，跨度约为4千碱基。通过引物延伸和RT-PCR分析，在-81位的胞嘧啶核苷酸附近确定了转录起始点。在转录起始点300 bp范围内没有典型的TATA盒。我们在5'侧翼区域发现了Sp1结合共有序列。通过荧光原位杂交将人类SPR基因定位到染色体带2p13。
