title: Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22.
abstract: Tetrahydrobiopterin (BH4) is the redox cofactor for the aromatic amino acid hydroxylases such as phenylalanine hydroxylase. At least five enzymes are known to be involved in BH4 biosynthesis and regeneration. A deficiency in several of the BH4 metabolic enzymes causes variant types of hyperphenylalaninemias in man. Recently, we cloned and expressed the human cDNAs for two of the BH4 enzymes, the 6-pyruvoyl-tetrahydropterin synthase and the pterin-4 alpha-carbinolamine dehydratase (gene symbols PTS and PCD/DCOH, respectively). In this report, we localized the two genes on the human chromosomes by in situ hybridization. The PTS gene was mapped to the chromosomal region 11q22.3-q23.3, and the PCD/DCOH gene was mapped to the 10q22 band of the genome.
authors.affiliation: Department of Pediatrics, University of Zürich, Switzerland.
authors.forename: B
authors.initials: B
authors.lastname: Thöny
authors.forename: C W
authors.initials: CW
authors.lastname: Heizmann
authors.forename: M G
authors.initials: MG
authors.lastname: Mattei
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics*; D001708:Biopterins / Q000031:analogs & derivatives* / Q000378:metabolism; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D002880:Chromosomes, Human, Pair 11; D005796:Genes; D006801:Humans; D006836:Hydro-Lyases / Q000235:genetics*; D017403:In Situ Hybridization; D019761:Phosphorus-Oxygen Lyases
chemical_list: D001708:Biopterins; D000429:Alcohol Oxidoreductases; D006836:Hydro-Lyases; C076392:pterin-4a-carbinolamine dehydratase; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase; C003402:sapropterin