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. 1983;94:91–99.

Human hypoxanthine-guanine phosphoribosyltransferase: studies of the normal and five mutant forms of the enzyme.

W N Kelley, J M Wilson
PMCID: PMC2279576  PMID: 7186238

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Becker M. A., Yen R. C., Itkin P., Goss S. J., Seegmiller J. E., Bakay B. Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the X chromosome. Science. 1979 Mar 9;203(4384):1016–1019. doi: 10.1126/science.218284. [DOI] [PubMed] [Google Scholar]
  2. Brennand J., Chinault A. C., Konecki D. S., Melton D. W., Caskey C. T. Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences. Proc Natl Acad Sci U S A. 1982 Mar;79(6):1950–1954. doi: 10.1073/pnas.79.6.1950. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Ghangas G. S., Milman G. Hypoxanthine phosphoribosyltransferase: two-dimensional gels from normal and Lesch-Nyhan hemolyzates. Science. 1977 Jun 3;196(4294):1119–1120. doi: 10.1126/science.870972. [DOI] [PubMed] [Google Scholar]
  4. Jolly D. J., Esty A. C., Bernard H. U., Friedmann T. Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase. Proc Natl Acad Sci U S A. 1982 Aug;79(16):5038–5041. doi: 10.1073/pnas.79.16.5038. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Kelley W. N., Greene M. L., Rosenbloom F. M., Henderson J. F., Seegmiller J. E. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med. 1969 Jan;70(1):155–206. doi: 10.7326/0003-4819-70-1-155. [DOI] [PubMed] [Google Scholar]
  6. Kelley W. N., Rosenbloom F. M., Henderson J. F., Seegmiller J. E. A specific enzyme defect in gout associated with overproduction of uric acid. Proc Natl Acad Sci U S A. 1967 Jun;57(6):1735–1739. doi: 10.1073/pnas.57.6.1735. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. LESCH M., NYHAN W. L. A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION. Am J Med. 1964 Apr;36:561–570. doi: 10.1016/0002-9343(64)90104-4. [DOI] [PubMed] [Google Scholar]
  8. Lin P. F., Yamaizumi M., Murphy P. D., Egg A., Ruddle F. H. Partial purification and characterization of the mRNA for human thymidine kinase and hypoxanthine/guanine phosphoribosyltransferase. Proc Natl Acad Sci U S A. 1982 Jul;79(14):4290–4294. doi: 10.1073/pnas.79.14.4290. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Ricciuti F., Ruddle F. H. Assignment of nucleoside phosphorylase to D-14 and localization of X-linked loci in man by somatic cell genetics. Nat New Biol. 1973 Feb 7;241(110):180–182. doi: 10.1038/newbio241180a0. [DOI] [PubMed] [Google Scholar]
  10. Seegmiller J. E., Rosenbloom F. M., Kelley W. N. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science. 1967 Mar 31;155(3770):1682–1684. doi: 10.1126/science.155.3770.1682. [DOI] [PubMed] [Google Scholar]
  11. Shapiro S. L., Sheppard G. L., Jr, Dreifuss F. E., Newcombe D. S. X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia. Proc Soc Exp Biol Med. 1966 Jun;122(2):609–611. doi: 10.3181/00379727-122-31204. [DOI] [PubMed] [Google Scholar]
  12. Tarr G. E. Improved manual sequencing methods. Methods Enzymol. 1977;47:335–357. doi: 10.1016/0076-6879(77)47036-8. [DOI] [PubMed] [Google Scholar]
  13. Wilson J. M., Baugher B. W., Landa L., Kelley W. N. Human hypoxanthine-guanine phosphoribosyltransferase. Purification and characterization of mutant forms of the enzyme. J Biol Chem. 1981 Oct 25;256(20):10306–10312. [PubMed] [Google Scholar]
  14. Wilson J. M., Baugher B. W., Mattes P. M., Daddona P. E., Kelley W. N. Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme. J Clin Invest. 1982 Mar;69(3):706–715. doi: 10.1172/JCI110499. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Wilson J. M., Tarr G. E., Mahoney W. C., Kelley W. N. Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme. J Biol Chem. 1982 Sep 25;257(18):10978–10985. [PubMed] [Google Scholar]
  16. Zannis V. I., Gudas L. J., Martin D. W., Jr Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts. Biochem Genet. 1980 Feb;18(1-2):1–19. doi: 10.1007/BF00504356. [DOI] [PubMed] [Google Scholar]

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