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Science 28 October 1983:
Vol. 222. no. 4622, pp. 426 - 428
DOI: 10.1126/science.6623083
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Articles

Science, Vol 222, Issue 4622, 426-428
Copyright © 1983 by American Association for the Advancement of Science

articles

Biogenesis of ornithine transcarbamylase in spfash mutant mice: two cytoplasmic precursors, one mitochondrial enzyme

LE Rosenberg, F Kalousek, and MD Orsulak

Extracts of liver from hemizygous affected mice with the X-linked spfash mutation have 5 to 10 percent of normal ornithine transcarbamylase (OTC) activity, yet the homogeneous enzyme isolated from these extracts is identical to that in controls. The OTC messenger RNA from mutant livers programs the synthesis of two distinct OTC precursor polypeptides--one normal in size, the other distinctly elongated. Both precursors are imported and proteolytically processed by mitochondria, but only the normal one is assembled into active trimer. This novel phenotype may result from a mutation in the structural gene for OTC leading, primarily, to aberrant splicing of OTC messenger RNA and, secondarily, to formation of a structurally altered precursor whose posttranslational pathway is ultimately futile because its mature mitochondrial form is not capable of assembly and functional expression.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Ornithine Restores Ureagenesis Capacity and Mitigates Hyperammonemia in Otcspf-ash Mice.
J. C. Marini, B. Lee, and P. J. Garlick (2006)
J. Nutr. 136, 1834-1838
   Abstract »    Full Text »    PDF »
Reduced Ornithine Transcarbamylase Activity Does Not Impair Ureagenesis in Otcspf-ash Mice.
J. C. Marini, B. Lee, and P. J. Garlick (2006)
J. Nutr. 136, 1017-1020
   Abstract »    Full Text »    PDF »
A Phenotype Map of the Mouse X Chromosome: Models for Human X-linked Disease.
Y. Boyd, H. J. Blair, P. Cunliffe, W. K. Masson, and V. Reed (2000)
Genome Res. 10, 277-292
   Abstract »    Full Text »
Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.
A. Horwich, W. Fenton, K. Williams, F Kalousek, J. Kraus, R. Doolittle, W Konigsberg, and L. Rosenberg (1984)
Science 224, 1068-1074
   Abstract »    PDF »


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