Genomic Organization and Chromosomal Localization of the Human Sepiapterin Reductase Gene
Copyright policy )Genomic Organization and Chromosomal Localization of the Human Sepiapterin Reductase Gene
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.
570, Genomic Library, Binding Sites, Base Sequence, Transcription, Genetic, Reverse Transcriptase Polymerase Chain Reaction, Sp1 Transcription Factor, Molecular Sequence Data, Restriction Mapping, Chromosome Mapping, Exons, TATA Box, Alcohol Oxidoreductases, Chromosomes, Human, Pair 2, Consensus Sequence, Tumor Cells, Cultured, Humans, Amino Acid Sequence, In Situ Hybridization, Fluorescence, DNA Primers
570, Genomic Library, Binding Sites, Base Sequence, Transcription, Genetic, Reverse Transcriptase Polymerase Chain Reaction, Sp1 Transcription Factor, Molecular Sequence Data, Restriction Mapping, Chromosome Mapping, Exons, TATA Box, Alcohol Oxidoreductases, Chromosomes, Human, Pair 2, Consensus Sequence, Tumor Cells, Cultured, Humans, Amino Acid Sequence, In Situ Hybridization, Fluorescence, DNA Primers
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