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cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding β-ureidopropionase

1999; Elsevier BV; Volume: 1447; Issue: 2-3 Linguagem: Inglês

10.1016/s0167-4781(99)00182-7

1879-2634

P. Vreken, André B. P. Kuilenburg, Naoki Hamajima, Rutger Meinsma, Henk van Lenthe, Gudrun Göhlich‐Ratmann, Birgit Assmann, Ron A. Wevers, Albert H. Gennip,

Peroxisome Proliferator-Activated Receptors

A full-length cDNA clone encoding human β-ureidopropionase was isolated. A 1152-nucleotide open reading frame which corresponds to a protein of 384 amino acids with a calculated molecular weight of 43 158 Da, surrounded by a 5′-untranslated region of 61 nucleotides and a 3′-untranslated region of 277 nucleotides was identified. The protein showed 91% similarity with the translation product of the rat β-ureidopropionase cDNA. Expression of the human cDNA in an Escherichia coli and eukaryotic COS-7 expression system revealed a very high β-ureidopropionase enzymatic activity, thus confirming the identity of the cDNA. Since human EST libraries from brain, liver, kidney and heart contained partial β-ureidopropionase cDNAs, the enzyme seems to be expressed in these tissues, in agreement with the expression profile of this enzyme in rat. Using the human cDNA as a probe a genomic P1 clone could be isolated containing the complete human β-ureidopropionase gene. The gene consist of 11 exons spanning approximately 20 kB of genomic DNA. Fluorescence in situ hydridization localized the human β-ureidopropionase gene to 22q11.2.