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Gene Review

Otc  -  ornithine transcarbamylase

Mus musculus

Synonyms: AI265390, OTCase, Ornithine carbamoyltransferase, mitochondrial, Ornithine transcarbamylase, Sf, ...
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Disease relevance of Otc


Psychiatry related information on Otc


High impact information on Otc


Chemical compound and disease context of Otc


Biological context of Otc


Anatomical context of Otc

  • Sizes of patches, which were aggregates of OTC-positive or -negative hepatocytes, increased during development [17].
  • We conclude that this 800-bp fragment contains sufficient information to control OTCase gene expression in a tissue-specific manner, probably by interacting with trans-acting factor(s) which are not present in the other cell line [3].
  • Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line [20].
  • Using microinjection, we introduced a construction containing rat OTC cDNA linked to the SV40 early promoter into fertilized eggs of Spf-ash mice [20].
  • CONCLUSIONS: Taken together, we conclude that newly synthesized mouse OTC enzyme was efficiently imported into mitochondria following vector-mediated gene delivery in spf(ash) mice, correcting secondary metabolic alterations [21].

Associations of Otc with chemical compounds


Physical interactions of Otc

  • In the present study, densities of the M1 and M2 subclasses of muscarinic cholinergic binding sites were assessed using quantitative receptor autoradiography in the brains of sparse-fur (spf) mice with congenital OTC deficiency and in age-matched CD-1 controls [26].

Other interactions of Otc

  • As in humans, the mRpgr gene maps within 50 kilobases from the 5'-end of the Otc gene [27].
  • Breeding experiments were conducted to combine the X-linked sparse-fur (spf) mutation with ornithine transcarbamylase deficiency and the autosomal recessive deficiency of short-chain acyl CoA dehydrogenase (SCAD) in BALB/cByJ mice [28].
  • Determination of tissue specificity of the enhancer by combinatorial operation of tissue-enriched transcription factors. Both HNF-4 and C/EBP beta are required for liver-specific activity of the ornithine transcarbamylase enhancer [2].
  • Densities of binding sites for the predominantly postsynaptic muscarinic M2 subtype ligand 3H-AFDX 384 were increased by up to 60% (p < 0.01) in cerebral cortex, hippocampus, globus pallidus, as well as thalamic and hypothalamic structures of OTC-deficient mice [26].
  • These findings suggest that the pronounced reduction of CPS and OTC activities reported in Reye's syndrome in man are not a general manifestation of the severity of influenza infection [23].

Analytical, diagnostic and therapeutic context of Otc


  1. Activities of monoamine oxidase-A and -B are altered in the brains of congenitally hyperammonemic sparse-fur (spf) mice. Rao, V.L., Qureshi, I.A., Butterworth, R.F. Neurosci. Lett. (1994) [Pubmed]
  2. Determination of tissue specificity of the enhancer by combinatorial operation of tissue-enriched transcription factors. Both HNF-4 and C/EBP beta are required for liver-specific activity of the ornithine transcarbamylase enhancer. Nishiyori, A., Tashiro, H., Kimura, A., Akagi, K., Yamamura, K., Mori, M., Takiguchi, M. J. Biol. Chem. (1994) [Pubmed]
  3. The 5' flanking region of the ornithine transcarbamylase gene contains DNA sequences regulating tissue-specific expression. Veres, G., Craigen, W.J., Caskey, C.T. J. Biol. Chem. (1986) [Pubmed]
  4. The genetic structure of mouse ornithine transcarbamylase. Scherer, S.E., Veres, G., Caskey, C.T. Nucleic Acids Res. (1988) [Pubmed]
  5. Correction of ornithine transcarbamylase deficiency in adult spf(ash) mice and in OTC-deficient human hepatocytes with recombinant adenoviruses bearing the CAG promoter. Kiwaki, K., Kanegae, Y., Saito, I., Komaki, S., Nakamura, K., Miyazaki, J.I., Endo, F., Matsuda, I. Hum. Gene Ther. (1996) [Pubmed]
  6. Evidence for cholinergic neuronal loss in brain in congenital ornithine transcarbamylase deficiency. Ratnakumari, L., Qureshi, I.A., Butterworth, R.F. Neurosci. Lett. (1994) [Pubmed]
  7. Adenovirus-mediated in vivo gene transfer rapidly protects ornithine transcarbamylase-deficient mice from an ammonium challenge. Ye, X., Robinson, M.B., Pabin, C., Quinn, T., Jawad, A., Wilson, J.M., Batshaw, M.L. Pediatr. Res. (1997) [Pubmed]
  8. The molecular basis of the sparse fur mouse mutation. Veres, G., Gibbs, R.A., Scherer, S.E., Caskey, C.T. Science (1987) [Pubmed]
  9. Biogenesis of ornithine transcarbamylase in spfash mutant mice: two cytoplasmic precursors, one mitochondrial enzyme. Rosenberg, L.E., Kalousek, F., Orsulak, M.D. Science (1983) [Pubmed]
  10. The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing. Hodges, P.E., Rosenberg, L.E. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  11. Reye's syndrome simulacra in liver of mice after treatment with chemical agents and encephalomyocarditis virus. Hug, G., Bosken, J., Bove, K., Linnemann, C.C., McAdams, L. Lab. Invest. (1981) [Pubmed]
  12. Dendritic alterations in cortical pyramidal cells in the sparse fur mouse. Hopkins, K.J., McKean, J., Mervis, R.F., Oster-Granite, M.L. Brain Res. (1998) [Pubmed]
  13. BWTG3 hepatoma cells can acquire phenylalanine hydroxylase, cystathionine synthase and CPS-I without genetic manipulation, but activation of the silent OTC gene requires cell fusion with hepatocytes. Farmer, A.A., Goss, S.J. J. Cell. Sci. (1991) [Pubmed]
  14. Effect of sodium benzoate and sodium phenylacetate on brain serotonin turnover in the ornithine transcarbamylase-deficient sparse-fur mouse. Batshaw, M.L., Hyman, S.L., Coyle, J.T., Robinson, M.B., Qureshi, I.A., Mellits, E.D., Quaskey, S. Pediatr. Res. (1988) [Pubmed]
  15. Reduction in the MK-801 binding sites of the NMDA sub-type of glutamate receptor in a mouse model of congenital hyperammonemia: prevention by acetyl-L-carnitine. Rao, K.V., Qureshi, I.A. Neuropharmacology (1999) [Pubmed]
  16. Partial inversion of gene order within a homologous segment on the X chromosome. Laval, S.H., Boyd, Y. Mamm. Genome (1993) [Pubmed]
  17. Quantitative analysis of cell allocation during liver development, using the spf(ash)-heterozygous female mouse. Shiojiri, N., Sano, M., Inujima, S., Nitou, M., Kanazawa, M., Mori, M. Am. J. Pathol. (2000) [Pubmed]
  18. Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. de Martinville, B., Kunkel, L.M., Bruns, G., Morlé, F., Koenig, M., Mandel, J.L., Horwich, A., Latt, S.A., Gusella, J.F., Housman, D. Am. J. Hum. Genet. (1985) [Pubmed]
  19. Defective ureagenesis in mice carrying a liver-specific disruption of hepatocyte nuclear factor 4alpha (HNF4alpha ). HNF4alpha regulates ornithine transcarbamylase in vivo. Inoue, Y., Hayhurst, G.P., Inoue, J., Mori, M., Gonzalez, F.J. J. Biol. Chem. (2002) [Pubmed]
  20. Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line. Cavard, C., Grimber, G., Dubois, N., Chasse, J.F., Bennoun, M., Minet-Thuriaux, M., Kamoun, P., Briand, P. Nucleic Acids Res. (1988) [Pubmed]
  21. Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency. Zimmer, K.P., Bendiks, M., Mori, M., Kominami, E., Robinson, M.B., Ye, X., Wilson, J.M. Mol. Med. (1999) [Pubmed]
  22. Complementary expression of glutamine synthetase and carbamoylphosphate synthetase I in ornithine carbamoyltransferase-deficient mouse liver (spf-ash mouse). Shiojiri, N., Ohta, T., Ogawa, K., Gebhardt, R. Histochem. Cell Biol. (1997) [Pubmed]
  23. Hepatic carbamyl phosphate synthetase and ornithine transcarbamylase in mouse influenze A and influenze B infection. Pierson, D., Knight, V., Hansard, P., Chan, E. Proc. Soc. Exp. Biol. Med. (1976) [Pubmed]
  24. Impaired cognitive performance in ornithine transcarbamylase-deficient mice on arginine-free diet. D'Hooge, R., Marescau, B., Qureshi, I.A., De Deyn, P.P. Brain Res. (2000) [Pubmed]
  25. Progressive decrease of cerebral cytochrome C oxidase activity in sparse-fur mice: role of acetyl-L-carnitine in restoring the ammonia-induced cerebral energy depletion. Rao, K.V., Mawal, Y.R., Qureshi, I.A. Neurosci. Lett. (1997) [Pubmed]
  26. Central muscarinic cholinergic M1 and M2 receptor changes in congenital ornithine transcarbamylase deficiency. Ratnakumari, L., Qureshi, I.A., Butterworth, R.F. Pediatr. Res. (1996) [Pubmed]
  27. Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). Yan, D., Swain, P.K., Breuer, D., Tucker, R.M., Wu, W., Fujita, R., Rehemtulla, A., Burke, D., Swaroop, A. J. Biol. Chem. (1998) [Pubmed]
  28. Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism. Qureshi, I.A., Leblanc, D., Cyr, D., Giguère, R., Mitchell, G. Biochem. Biophys. Res. Commun. (1993) [Pubmed]
  29. Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency. Batshaw, M.L., Robinson, M.B., Ye, X., Pabin, C., Daikhin, Y., Burton, B.K., Wilson, J.M., Yudkoff, M. Pediatr. Res. (1999) [Pubmed]
  30. Prenatal diagnosis of ornithine transcarbamylase deficiency: results in Spfash mice. Monastiri, K., Rabier, D., Kamoun, P. Prenat. Diagn. (1993) [Pubmed]
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