Abstract
A complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) in man leads to the development of the Lesch-Nyhan syndrome (1) whereas a partial deficiency of the same enzyme leads to a severe form of gout (2). In an attempt to understand the molecular basis of these deficiency states, we have focused our recent studies on the structural and functional properties of HPRT from normal and enzyme-deficient patients.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
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).
W.N. Kelley, F.M. Rosenbloom, J.F. Hendersen, 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).
W.D.L. Musick, Structural features of the phosphoribosyltranferases and their relationship to the human deficiency disorders of purine and pyrimidine metabolism, C. R. C. Critical Rev. Biochem. 11: 1–34 (1981).
V.I. Zannis, L.J. Gudas, and D.W. Martin, Jr., Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts, Biochem. Genet. 18: 1–19 (1980).
G.G. Johnson, A.L. Ramage, J.W. Littlefield, and H.H. Kazazian, Jr., Hypoxanthine-guanine phosphoribo-syltransferase in human erythroid cells: post-translational modification, Biochemistry 21: 960–966 (1982).
J.M. Wilsen, B.W. Baugher, P.M. Mattes, P.E. Daddona, and W.N. Kelley, Human hypoxanthine-guanine phosphoribo-syltransferase: demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme, J.Clin. Invest. 69: 706–715 (1982).
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).
J.A. Holden, and W.N. Kelley, Human hypoxanthine-guanine phosphoribosyltransferase: evidence for a tetrameric structure, J. Biol. Chem. 253: 4459–4463 (1978).
J.W. Wilson, G.E. Tarr, W.C. Mahoney, and W.N. Kelley, Human hypoxanithine-guanine phosphoribosyltransferase: complete amino acid sequence of the erythrocyte enzyme, J.Biol. Chem. in press (1982).
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1984 Springer Science+Business Media New York
About this chapter
Cite this chapter
Wilson, J.M., Tarr, G.E., Kelley, W.N. (1984). The Primary Structure and Posttranslational Modification of Human Hypoxanthine-Guanine Phosphoribosyltransferase. In: De Bruyn, C.H.M.M., Simmonds, H.A., Müller, M.M. (eds) Purine Metabolism in Man-IV. Advances in Experimental Medicine and Biology, vol 165. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-0390-0_8
Download citation
DOI: https://doi.org/10.1007/978-1-4757-0390-0_8
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4757-0392-4
Online ISBN: 978-1-4757-0390-0
eBook Packages: Springer Book Archive