Experts and Doctors on ornithine carbamoyltransferase in Japan


Locale: Japan
Topic: ornithine carbamoyltransferase

Top Publications

  1. Hata A, Matsuura T, Setoyama C, Shimada K, Yokoi T, Akaboshi I, et al. A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency. Hum Genet. 1991;87:28-32 pubmed
    ..We observed the presence of the mutation among family members in at least three generations, and in one asymptomatic hemizygous sibling in each family. ..
  2. Kimura T, Chowdhury S, Tanaka T, Shimizu A, Iwase K, Oyadomari S, et al. CCAAT/enhancer-binding protein beta is required for activation of genes for ornithine cycle enzymes by glucocorticoids and glucagon in primary-cultured hepatocytes. FEBS Lett. 2001;494:105-11 pubmed
    ..Therefore, C/EBPbeta is required for hormonal induction of the genes for ornithine cycle enzymes in primary-cultured hepatocytes, while the deficiency of C/EBPbeta is compensated for in vivo. ..
  3. Murakami T, Takiguchi M, Inomoto T, Yamamura K, Mori M. Tissue- and developmental stage-specific expression of the rat ornithine carbamoyltransferase gene in transgenic mice. Dev Genet. 1989;10:393-401 pubmed
    ..Therefore, the 5' flanking sequence of the rat OCT gene seems to be sufficient for the developmental and tissue-specific expression of the gene. An explanation for low expression in the liver remains the subject of ongoing study. ..
  4. Sakakibara Y, Yanagisawa H. Agmatine deiminase from cucumber seedlings is a mono-specific enzyme: purification and characteristics. Protein Expr Purif. 2003;30:88-93 pubmed
    ..The characteristics of the enzyme purified from cucumber were like those of the enzyme from maize. These results indicate that agmatine deiminase is distinctly different from putrescine synthase in higher plants. ..
  5. Shiojiri N, Imai H, Goto S, Ohta T, Ogawa K, Mori M. Mosaic pattern of ornithine transcarbamylase expression in spfash mouse liver. Am J Pathol. 1997;151:413-21 pubmed
  6. Numata S, Harada E, Maeno Y, Ueki I, Watanabe Y, Fujii C, et al. Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients. J Hum Genet. 2008;53:10-7 pubmed
    ..Such heterozygous females should be alerted to possible hyperammonemic crisis. ..
  7. Terada K, Ueno S, Yomogida K, Imai T, Kiyonari H, Takeda N, et al. Expression of Tom34 splicing isoforms in mouse testis and knockout of Tom34 in mice. J Biochem. 2003;133:625-31 pubmed
    ..In vitro-preprotein import into isolated mitochondria showed no apparent difference between Tom34(-/-) and wild-type mice. These results indicate that Tom34 is dispensable for mouse growth and development under optimal conditions. ..
  8. Sawada H, Kanaya S, Tsuda M, Suzuki F, Azegami K, Saitou N. A phylogenomic study of the OCTase genes in Pseudomonas syringae pathovars: the horizontal transfer of the argK-tox cluster and the evolutionary history of OCTase genes on their genomes. J Mol Evol. 2002;54:437-57 pubmed publisher
    ..Thus, the horizontal gene transfer and the genomic rearrangement were proven to have played an important role in the pathogenic differentiation and diversification of P. syringae...
  9. Shiojiri N, Inujima S, Ishikawa K, Terada K, Mori M. Cell lineage analysis during liver development using the spf(ash)-heterozygous mouse. Lab Invest. 2001;81:17-25 pubmed

More Information


  1. Sawada H, Suzuki F, Matsuda I, Saitou N. Phylogenetic analysis of Pseudomonas syringae pathovars suggests the horizontal gene transfer of argK and the evolutionary stability of hrp gene cluster. J Mol Evol. 1999;49:627-44 pubmed
  2. Shiojiri N, Ohta T, Ogawa K, Gebhardt R. Complementary expression of glutamine synthetase and carbamoylphosphate synthetase I in ornithine carbamoyltransferase-deficient mouse liver (spf-ash mouse). Histochem Cell Biol. 1997;108:489-94 pubmed
    ..Instead they support the idea that factor(s) associated with central veins rather than humoral factors direct pericentral hepatocytes to express glutamine synthetase and to suppress carbamoylphosphate synthetase I expression. ..
  3. Tomomura M, Imamura Y, Horiuchi M, Koizumi T, Nikaido H, Hayakawa J, et al. Abnormal expression of urea cycle enzyme genes in juvenile visceral steatosis (jvs) mice. Biochim Biophys Acta. 1992;1138:167-71 pubmed
    ..These results suggest that jvs affects not only the regulation of the tissue-specific expression of the urea cycle enzymes but also the regulation of their developmental induction. ..
  4. Sawada H, Takeuchi T, Matsuda I. Comparative analysis of Pseudomonas syringae pv. actinidiae and pv. phaseolicola based on phaseolotoxin-resistant ornithine carbamoyltransferase gene (argK) and 16S-23S rRNA intergenic spacer sequences. Appl Environ Microbiol. 1997;63:282-8 pubmed
    ..syringae pv. actinidiae and/or pv. phaseolicola...
  5. Kiwaki K, Kanegae Y, Saito I, Komaki S, Nakamura K, Miyazaki J, et al. Correction of ornithine transcarbamylase deficiency in adult spf(ash) mice and in OTC-deficient human hepatocytes with recombinant adenoviruses bearing the CAG promoter. Hum Gene Ther. 1996;7:821-30 pubmed
    ..Thus, the adenoviral vector with an efficient promoter such as CAG, can be given further consideration for possible gene therapy in humans with OTC deficiency. ..
  6. Maeda Y, Kawata S, Inui Y, Fukuda K, Igura T, Matsuzawa Y. Biotin deficiency decreases ornithine transcarbamylase activity and mRNA in rat liver. J Nutr. 1996;126:61-6 pubmed
    ..OTC gene expression in the liver of BD rats was 40% lower than in BS rats (P < 0.05). These data suggest that biotin deficiency decreases OTC activity and the amount of OTC mRNA. ..
  7. Saheki T, Mori K, Kobayashi K, Horiuchi M, Shige T, Obara T, et al. Importance of ornithine transcarbamylase (OTC) deficiency in small intestine for urinary orotic acid excretion: analysis of OTC-deficient spf-ash mice with OTC transgene. Biochim Biophys Acta. 1995;1270:87-93 pubmed
    ..These results suggest that the level of OTC activity in the small intestine is important for production of orotic acid...
  8. Aoki Y, Sunaga H, Suzuki K. A cadmium-binding protein in rat liver identified as ornithine carbamoyltransferase. Biochem J. 1988;250:735-42 pubmed
    ..A rabbit antibody against OCTase reacted with 40K Cd-BPa. The native form of 40K Cd-BPa bound to 0.8 molar equiv, of cadmium, with a dissociation constant of 7.6 x 10(-6) M. ..
  9. Okuno M, Muto Y, Kato M, Ninomiya M, Moriwaki H, Noma A, et al. Inhibitory effect of acyclic retinoid (polyprenoic acid) on the secretion of alpha-fetoprotein in CCl4-treated rats. J Nutr Sci Vitaminol (Tokyo). 1990;36:437-46 pubmed
    ..No significant side effect was observed, despite a long-term administration of the compound. The present finding will provide a potential scope for the future use of acyclic retinoid for the treatment of chronic liver damage. ..
  10. Komaki S, Matsuura T, Oyanagi K, Hoshide R, Kiwaki K, Endo F, et al. Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency. Am J Med Genet. 1997;69:177-81 pubmed
    ..The possibility that inherited factors will lead to skewed X-inactivation needs to be considered...
  11. Li M, Nakajima T, Fukushige T, Kobayashi K, Seiler N, Saheki T. Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator. Biochim Biophys Acta. 1999;1455:1-11 pubmed
  12. Matsuda I, Matsuura T, Nishiyori A, Komaki S, Hoshide R, Matsumoto T, et al. Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult. J Med Genet. 1996;33:645-8 pubmed
    ..We consider that the amount of protein ingested by these subjects may be one predisposing factor leading to the manifestation of this disease. ..
  13. Wakabayashi Y. Tissue-selective expression of enzymes of arginine synthesis. Curr Opin Clin Nutr Metab Care. 1998;1:335-9 pubmed
    ..The selective expression of pyrroline-5-carboxylate synthase activity in the intestine remains to be clarified. ..
  14. Ozaki M, Terada K, Kanazawa M, Fujiyama S, Tomita K, Mori M. Enzyme-linked immunosorbent assay of carbamoylphosphate synthetase I: plasma enzyme in rat experimental hepatitis and its clearance. Enzyme Protein. 1994;48:213-21 pubmed
    ..Development of an ELISA for human CPS I and determination of the serum enzyme in various liver diseases remain to be performed. ..
  15. Nishibori M, Shimogiri T, Hayashi T, Yasue H. Molecular evidence for hybridization of species in the genus Gallus except for Gallus varius. Anim Genet. 2005;36:367-75 pubmed
    ..Alternative clustering of RJF and chicken alleles were also observed. These findings taken together strongly indicate that inter-species hybridizations have occurred between GyJF and RJF/chicken and between GyJF and CJF...