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Genetic Mechanism(S) Responsible for a Deficiency of Adenine Phosphoribosyltransferase in Man

  • James M. Wilson
  • Peter E. Daddona
  • H. Anne Simmonds
  • William N. Kelley
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

Adenine phosphoribosyltransferase (APRT) is a relatively non-abundant soluble enzyme which in man is coded for by a single structural gene on chromosome 16 (1). A partial deficiency of APRT in man was first described in 1968 (2). These subjects were asymptomatic and were shown to be heterozygous for the enzyme defect. A complete deficiency of APRT activity has now been described in several patients with renal calculi composed of 2,8-dihydroxyadenine who are homozygous for the enzyme defect (reviewed in ref. 3). The genetic mechanisms responsible for an inherited deficiency of APRT however have remained undefined.

Keywords

Immunoreactive Protein Enzyme Defect Adenine Phosphoribosyltransferase APRT Deficiency Clinical Science Laboratory 
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. A. Tischfield and F.H. Ruddle. Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization, Proc. Natl. Acad. Sci. USA 71: 45–49 (1974).PubMedCrossRefGoogle Scholar
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    W. N. Kelley, R. I. Levy, F. M. Rosenbloom, J. F. Henderson, and J. E. Seegmiller. Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man, J. Clin. Invest. 47: 2281–2289 (1968).PubMedCrossRefGoogle Scholar
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    W. N. Kelley, R. I. Levy, F. M. Rosenbloom, J. F. Henderson, and J. E. Seegmiller. Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man, J. Clin. Invest. 47: 2281–2289 (1968).PubMedCrossRefGoogle Scholar
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    J.M. Wilson, P.E. Daddona, H.A. Simmonds, K.J. Van Acker, and W.N. Kelley. Human adenine phosphoribosyltransferase: immunochemical quantitation and protein blot analysis of mutant forms of the enzyme, J. Biol. Chem. 257: 1508–1515 (1982).PubMedGoogle Scholar
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    H. Towbin, T. Staehelin and J. Gordon. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose paper: procedure and some applications, Proc. Natl. Acad. Sci. USA 76: 4350–4354 (1979).PubMedCrossRefGoogle Scholar
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    J.A. Holden, G.S. Meredith, and W.N. Kelley. Human adenine phosphoribosyltransferase: affinity purification, subunit structure, amino acid composition, and peptide mapping, J. Biol. Chem. 254: 6951–6955 (1979).PubMedGoogle Scholar

Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • James M. Wilson
    • 1
    • 2
  • Peter E. Daddona
    • 1
    • 2
  • H. Anne Simmonds
    • 1
    • 2
  • William N. Kelley
    • 1
    • 2
  1. 1.Departments of Internal Medicine and Biological ChemistryUniversity of MichiganLondonEngland
  2. 2.Ann Arbor, Michigan and Clinical Science LaboratoriesGuy’s HospitalLondonEngland

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