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

Vreken, P.; Kuilenburg, André B. P.; Hamajima, Naoki; Meinsma, Rutger; Lenthe, Henk van; Göhlich-Ratmann, G.; Assmann, Birgit; Wevers, Ron A.; Gennip, A. H. van

doi:10.1016/s0167-4781(99)00182-7

Cited by 37 publications

(19 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Q03248; Arabidopsis thaliana, GenBank accession no. BAB09868) (10,15,27,39). The highest sequence identity was found with that from Saccharomyces kluyveri (Sk␤as; 36.70%); the amino acid sequence identity with all other enzymes was Ͻ10%.…”

Section: Resultsmentioning

confidence: 97%

“…Sequencing was carried out twice from both strands, using standard T3 and T7 primers, edited, and assembled. The assembled sequences were aligned and compared with different NC␤AAs of proven activity (10,15,27,39).…”

Section: Methodsmentioning

confidence: 99%

“…In this reaction, N-carbamoyl-␤-alanine or N-carbamoyl-␤-aminoisobutyric acid is irreversibly hydrolyzed to CO 2 , NH 3 , and ␤-alanine or ␤-aminoisobutyric acid, respectively (43). Eukaryotic NC␤AAs have been purified from several sources (10,25,33,39,42,44). Nevertheless, only two prokaryotic NC␤AAs, belonging to the Clostridium and Pseudomonas genera (4,29), have been purified to date, although this activity has been inferred for several microorganisms due to the appearance of the reductive pathway of pyrimidine degradation (38,45).…”

mentioning

confidence: 99%

See 2 more Smart Citations

Potential Application ofN-Carbamoyl-β-Alanine Amidohydrolase fromAgrobacterium tumefaciensC58 for β-Amino Acid Production

Martínez-Gómez

Martínez‐Rodríguez

Pozo-Dengra

et al. 2009

Appl Environ Microbiol

View full text Add to dashboard Cite

An N-carbamoyl-␤-alanine amidohydrolase of industrial interest from Agrobacterium tumefaciens C58 (␤car At ) has been characterized. ␤car At is most active at 30°C and pH 8.0 with N-carbamoyl-␤-alanine as a substrate. The purified enzyme is completely inactivated by the metal-chelating agent 8-hydroxyquinoline-5-sulfonic acid (HQSA), and activity is restored by the addition of divalent metal ions, such as Mn 2؉ , Ni 2؉ , and Co 2؉ . The native enzyme is a homodimer with a molecular mass of 90 kDa from pH 5.5 to 9.0. The enzyme has a broad substrate spectrum and hydrolyzes nonsubstituted N-carbamoyl-␣-, -␤-, -␥-, and -␦-amino acids, with the greatest catalytic efficiency for N-carbamoyl-␤-alanine. ␤car At also recognizes substrate analogues substituted with sulfonic and phosphonic acid groups to produce the ␤-amino acids taurine and ciliatine, respectively. ␤car At is able to produce monosubstituted ␤ 2 -and ␤ 3 -amino acids, showing better catalytic efficiency (k cat /K m ) for the production of the former. For both types of monosubstituted substrates, the enzyme hydrolyzes N-carbamoyl-␤-amino acids with a short aliphatic side chain better than those with aromatic rings. These properties make ␤car At an outstanding candidate for application in the biotechnology industry.

show abstract

Section: Resultsmentioning

confidence: 97%

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Potential Application ofN-Carbamoyl-β-Alanine Amidohydrolase fromAgrobacterium tumefaciensC58 for β-Amino Acid Production

Martínez-Gómez

Martínez‐Rodríguez

Pozo-Dengra

et al. 2009

Appl Environ Microbiol

View full text Add to dashboard Cite

show abstract

“…Subsequently, the deficiency of the enzyme was confirmed at the enzyme level in a liver biopsy from our patient (19). The genomic structure and chromosomal localization of the human UP gene is known (20). Two splice site mutations were found in the UP gene at the genomic DNA level.…”

Section: Discussionmentioning

confidence: 99%

β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine

et al. 2001

Self Cite

View full text Add to dashboard Cite

In this work, NMR investigations that led to the discovery of a new inborn error of metabolism, ␤-ureidopropionase (UP) deficiency, are reported. 1D 1 H-NMR experiments were performed using a patient's urine. 3-Ureidopropionic acid was observed in elevated concentrations in the urine spectrum. A 1D 1 H-1 H total correlation spectroscopy (TOCSY) and two heteronuclear 2D NMR techniques (heteronuclear multiple bond correlation (HMBC) and heteronuclear single-quantum correlation (HSQC)) were used to identify the molecular structure of the compound that caused an unknown doublet resonance at 1.13 ppm. Combining the information from the various NMR spectra, this resonance could be assigned to 3-ureidoisobutyric acid. These observations suggested a deficiency of UP. With 1D 1 H-NMR spectroscopy, UP deficiency can be easily diagnosed. The 1 H-NMR spectrum can also be used to diagnose patients suffering from other inborn errors of metabolism in the pyrimidine degradation pathway.

show abstract

“…The UPB1 gene has been mapped to chromosome 22q11.2 and consists of 10 exons spanning approximately 20 kb of genomic DNA. [1] To date, only 16 genetically confirmed patients with a ß-ureidopropionase deficiency have been reported. [2] Until now, only missense mutations and intronic mutations that lead to aberrant splicing [3] have been found in these patients.…”

Section: Introductionmentioning

confidence: 99%

Publisher's Note

2014

Nucleosides, Nucleotides and Nucleic Acids

View full text Add to dashboard Cite

show abstract

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

Cited by 37 publications

References 25 publications

Potential Application ofN-Carbamoyl-β-Alanine Amidohydrolase fromAgrobacterium tumefaciensC58 for β-Amino Acid Production

Potential Application ofN-Carbamoyl-β-Alanine Amidohydrolase fromAgrobacterium tumefaciensC58 for β-Amino Acid Production

β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine

Publisher's Note

Contact Info

Product

Resources

About