title: cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase.
abstract: A full-length cDNA clone encoding human beta-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¿ omitted¿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 beta-ureidopropionase cDNA. Expression of the human cDNA in an Escherichia coli and eukaryotic COS-7 expression system revealed a very high beta-ureidopropionase enzymatic activity, thus confirming the identity of the cDNA. Since human EST libraries from brain, liver, kidney and heart contained partial beta-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 beta-ureidopropionase gene. The gene consist of 11 exons spanning approximately 20 kB of genomic DNA. Fluorescence in situ hydridization localized the human beta-ureidopropionase gene to 22q11.2.
authors.affiliation: Academic Medical Center, Departments of Clinical Chemistry and Division Emma Children's Hospital, Amsterdam, Netherlands. p.vreken@amc.uva.nl
authors.forename: P
authors.initials: P
authors.lastname: Vreken
authors.forename: A B
authors.initials: AB
authors.lastname: van Kuilenburg
authors.forename: N
authors.initials: N
authors.lastname: Hamajima
authors.forename: R
authors.initials: R
authors.lastname: Meinsma
authors.forename: H
authors.initials: H
authors.lastname: van Lenthe
authors.forename: G
authors.initials: G
authors.lastname: Göhlich-Ratmann
authors.forename: B E
authors.initials: BE
authors.lastname: Assmann
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
mesh_terms: D000581:Amidohydrolases / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D019556:COS Cells; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D004926:Escherichia coli; D015870:Gene Expression; D006801:Humans; D008969:Molecular Sequence Data; D051381:Rats; D016415:Sequence Alignment
chemical_list: D018076:DNA, Complementary; D000581:Amidohydrolases; C021590:beta-ureidopropionase