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Hypoxanthine-Guanine Phosphoribosyltransferase in Human Lymphoblastoid Cells: Confirmation of Four Structural Variants and Demonstration of a New Variant (HPRTAnn Arbor)

  • James M. Wilson
  • B. Wade Baugher
  • William N. Kelley
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

An inherited deficiency of hypoxanthine-guanine phosphoribo-syltransferase (HPRT) has been described in two distinct clinical syndromes. A virtually complete deficiency of enzyme activity is associated with patients having the Lesch-Nyhan syndrome (1) while a partial deficiency of enzyme activity leads to hyperuricemia and an early onset of gout (2).

Keywords

Lymphoblastoid Cell Line Enzyme Variant HPRT Gene Subunit Molecular Weight Distinct Clinical Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    J.E, Seegmiller, F.M. Rosenbloom, and W.N. Kelley, Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis, Science 155: 1682–1684 (1967).PubMedCrossRefGoogle Scholar
  2. 2.
    W.N. Kelley, F.M. Rosenbloom, J.F. Henderson, and J.E. Seegmiller, A specific enzyme defect in gout associated with overproduction of uric acid, Proc. Natl. Acad. Sci. USA 57: 1735–1739 (1967).PubMedCrossRefGoogle Scholar
  3. 3.
    J.M. Wilson, B.W. Baugher, L. Landa, and W.N. Kelley, Human hypoxanthine-guanine phosphoribosyltransferase: purification and characterization of mutant forms of the enzyme, J. Biol.Chem. 256: 10306–10312 (1981).PubMedGoogle Scholar
  4. 4.
    J.M. Wilson, B.W. Baugher, P.M. Mattes, P.E. Daddona, and W.N. Kelley, Human hypoxanthine-guanine phosphoribosyltransferase: demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme, J.Clin. Invest. 69: 706–715 (1982).PubMedCrossRefGoogle Scholar
  5. 5.
    J.A. McDonald, and W.N. Kelley, Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme, Science 171: 689–691 (1971).PubMedCrossRefGoogle Scholar
  6. 6.
    W. Grobner, and N. Zollner, Eigenschaften der hypoxanthin-guaninphosphoribosyltransferase (HGPRTasc) bei einem gichtpatienten mit verminderter aktivitat dieses enzyms, Klin. Wochenschr. 57: 63–68 (1979).PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1984

Authors and Affiliations

  • James M. Wilson
    • 1
  • B. Wade Baugher
    • 1
  • William N. Kelley
    • 1
  1. 1.Departments of Internal Medicine and Biological ChemistryUniversity of Michigan Medical CenterAnn ArborUSA

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