Abstract
Gene complementation analysis of genetically defective cells is a useful tool in the knowledge of the heterogeneity of the inherited diseases. We have used the polyethylene glycol fusion on fibroblasts deficient either in argininosuccinate synthetase (ASS) or in argininosuccinate lyase (ASL) to detect a possible heterogeneity of citrullinemia or argininosuccinic aciduria. A slight modification of the method of Tedesco and Mellmanl was used in the search of a positive complementation.
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References
Tedesco T.A. and Mellman W.J. (1967). Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject. Proc. Natl. Acad. Sci. USA 57: 829.
Brown G.W. and Cohen P.P. (1959). Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver. J. Biol. Chem. 234: 1769.
Russel W.C., Newman C. and Williams D.H. (1975). A simple cytochemical technique for demonstration of DNA in cells infected with mycoplasmas and viruses. Nature 253: 461.
Stein G.H. and Yanishevsky R. (1979). Autoradiography in: “Methods in enzymology”. Jakoby W.B., Pastan H. ed., Academic Press New York 58:279.
Henry R.J. and Dryer R.L. (1963). Some applications of statistics to clinical chemistry in: “Standard Methods of Clinical Chemistry”. Seligson D. ed, Academic Press New York.
Shih V.E. (1978). Urea cycle disorders and other congenital hyperammonemic syndromes in: “The metabolic basis of inherited disease”. Stanbury J.B., Wyngaarden J.B., Fredrickson D.S. ed, Mc Graw Hill New York.
Kennaway N.G., Harwood P.J., Ramberg D.A., Koler R.D. and Buist N.R.M. (1975). Citrullinemia: enzymatic evidence for genetic heterogeneity. Pediat. Res. 9: 554.
Saheki T, Kusumi T., Takada S. and Katsunuma T. (1977). Studies of rat liver argininosuccinate synthetase. I. Physicochemical, catalytic and immunochemical properties. J. Biochem. 86: 1353.
O’Brien W. (1979). Isolation and characterization of argininosuccinate synthetase from human liver. Biochem 18: 5353.
Takada S., Kusumi T., Jaheki T., Tsuda M. and Katsunuma T. (1979). Studies of rat liver argininosuccinate synthetase. The presence of three forms and their physicochemical, catalytic, and immunochemical properties. J. Biochem. 86: 1353.
Qureshi I.A., Letarte J., Quellet R. and Lemieux B. (1978). Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria. Pediat. Res. 12: 256.
Lutsy C.J. and Ratner S. (1972). Biosynthesis of urea: XIV. The quaternary structure of argininosuccinase. J. Biol. Chem. 247: 7010.
Bray R.C. and Ratner S. (1971). Argininosuccinase from bovine kidney. Comparison of catalytic, physical and chemical properties with the enzyme from bovine liver. Arch. Biochem. Biophys. 146: 531.
Murakami-Murofushi K. and Ratner S. (1979). Argininosuccinase from bovine brain. Isolation and comparison of catalytic, physical, and chemical properties with the enzymes from liver and kidney. Anal. Biochem. 95: 139.
McInnes R.R., Shih V. and Liunardo N. (1980). Intragenic complementation in argininosuccinic acid lyase (ASAL) deficiency. Pediatr. Res. 14: 524 (abstract).
Cathelineau L., Pham Dinh D., Briand P. and Kamoun P. (1981). Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. Human. Genet. 57: 282.
Hoeksema H.L., Vandiggelen 0.P. and Galjaard H. (1979). Inter-genic complementation after fusion of fibroblasts from different patients with ?-galactosidase deficiency. Biochim. Biophys. Acta. 566: 72.
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© 1982 Springer Science+Business Media New York
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Cathelineau, L., Dinh, D.P., Briand, P., Kamoun, P. (1982). Complementation in Argininosuccinate Synthetase and Argininosuccinate Lyase Deficiencies in Human Fibroblasts. In: Lowenthal, A., Mori, A., Marescau, B. (eds) Urea Cycle Diseases. Advances in Experimental Medicine and Biology, vol 153. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-6903-6_13
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DOI: https://doi.org/10.1007/978-1-4757-6903-6_13
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