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PMID:7524491
| Citation |
Gütlich, M, Ziegler, I, Witter, K, Hemmens, B, Hültner, L, McDonald, JD, Werner, T, Rödl, W and Bacher, A (1994) Molecular characterization of HPH-1: a mouse mutant deficient in GTP cyclohydrolase I activity. Biochem. Biophys. Res. Commun. 203:1675-81 |
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| Abstract |
GTP cyclohydrolase I catalyzes the initial and rate limiting step of the biosynthesis of tetrahydrobiopterin, the cofactor for aromatic amino acid hydroxylation. The mouse mutant HPH-1, previously generated by chemical mutagenesis, shows a phenylketonuria due to decreased hepatic GTP cyclohydrolase I activity. We show that both parameters GTP cyclohydrolase I activity and tetrahydrobiopterin synthesis significantly increase after weaning, but remain reduced during the lifetime. In the wild type mouse (C57BL/6), interferon-gamma and kit ligand induce GTP cyclohydrolase I activity in primed T-cells and in bone marrow-derived mast cells, respectively. The same is true for the HPH-1 mutant, but the absolute values remain lower throughout. The open reading frame of GTP cyclohydrolase I is not affected by the hph-1 mutation as shown by sequencing. Northern blot analysis demonstrates a marked decrease in the steady state mRNA level specific for GTP cyclohydrolase I. |
| Links |
PubMed Online version:10.1006/bbrc.1994.2379 |
| Keywords |
Animals; Base Sequence; Biopterin/metabolism; Blotting, Northern; Bone Marrow; Cell Adhesion Molecules/pharmacology; Cells, Cultured; Cloning, Molecular; Concanavalin A/pharmacology; DNA Primers; Enzyme Induction; GTP Cyclohydrolase/biosynthesis; GTP Cyclohydrolase/genetics; GTP Cyclohydrolase/metabolism; Gene Expression; Hematopoietic Cell Growth Factors/pharmacology; Interferon-gamma/pharmacology; Lymphocyte Activation; Mast Cells/drug effects; Mast Cells/enzymology; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Molecular Sequence Data; Mutagenesis; Open Reading Frames; Polymerase Chain Reaction; RNA, Messenger/biosynthesis; Spleen/metabolism; Stem Cell Factor; T-Lymphocytes/drug effects; T-Lymphocytes/enzymology; T-Lymphocytes/immunology |
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Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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