Skip to main content

Complementation in Argininosuccinate Synthetase and Argininosuccinate Lyase Deficiencies in Human Fibroblasts

  • Chapter

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 153))

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.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 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.

    Google Scholar 

  2. 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.

    Google Scholar 

  3. 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.

    Google Scholar 

  4. Stein G.H. and Yanishevsky R. (1979). Autoradiography in: “Methods in enzymology”. Jakoby W.B., Pastan H. ed., Academic Press New York 58:279.

    Google Scholar 

  5. 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.

    Google Scholar 

  6. 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.

    Google Scholar 

  7. 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.

    Google Scholar 

  8. 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.

    Google Scholar 

  9. O’Brien W. (1979). Isolation and characterization of argininosuccinate synthetase from human liver. Biochem 18: 5353.

    Google Scholar 

  10. 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.

    Google Scholar 

  11. 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.

    Google Scholar 

  12. Lutsy C.J. and Ratner S. (1972). Biosynthesis of urea: XIV. The quaternary structure of argininosuccinase. J. Biol. Chem. 247: 7010.

    Google Scholar 

  13. 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.

    Google Scholar 

  14. 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.

    Google Scholar 

  15. McInnes R.R., Shih V. and Liunardo N. (1980). Intragenic complementation in argininosuccinic acid lyase (ASAL) deficiency. Pediatr. Res. 14: 524 (abstract).

    Google Scholar 

  16. 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.

    Google Scholar 

  17. 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.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1982 Springer Science+Business Media New York

About this chapter

Cite this chapter

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

Download citation

  • DOI: https://doi.org/10.1007/978-1-4757-6903-6_13

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4757-6905-0

  • Online ISBN: 978-1-4757-6903-6

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics