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| Författare |
Ulla Rüetschi Lars Rymo Sven Lindstedt |
|---|---|
| Publicerad i | Genomics |
| Volym | 44 |
| Nummer/häfte | 3 |
| Sidor | 292-9 |
| ISSN | 0888-7543 |
| Publiceringsår | 1997 |
| Publicerad vid |
Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin |
| Sidor | 292-9 |
| Språk | en |
| Länkar |
dx.doi.org/10.1006/geno.1997.4887 |
| Ämnesord | 4-Hydroxyphenylpyruvate Dioxygenase, biosynthesis, chemistry, genetics, isolation & purification, Base Sequence, Databases, Factual, Gene Expression Regulation, Genes, Humans, Kidney, enzymology, Liver, enzymology, Molecular Sequence Data, Organ Specificity, genetics, Promoter Regions, Genetic, Software, Transcription, Genetic |
| Ämneskategorier | Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci) |
Overlapping DNA fragments spanning approximately 21 kb of genomic DNA and encompassing the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) have been cloned by screening a human leukocyte genomic library and by PCR amplification of human fibroblastic DNA. A continuous gene sequence of 20,890 nucleotides was established, including 1957 bp of the 5'-flanking region. The 4-hydroxyphenylpyruvate dioxygenase gene is composed of 14 exons interrupted by 13 introns, all exhibiting conventional vertebrate splicing. Computer analysis of the DNA sequence revealed 12 complete repetitive Alu elements, 1 in the 5'-flanking region and 11 in the intervening segments of the gene. The transcriptional initiation site was mapped to a position 35 nt upstream of the translational start point. The computer analysis also identified several potential transcription regulatory elements, including one CRE site, two AP-2 sites, and two Sp1 sites, in the sequence upstream of the transcription initiation site. Functional analysis of promoter activity by transient transfection of chloramphenicolacetyl transferase reporter plasmids revealed a possible involvement of cyclic adenosine monophosphate in the regulation of transcription. The highest level of expression of 4-hydroxyphenylpyruvate dioxygenase was found in human liver tissue as demonstrated by Northern blot analysis.
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