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Characterization and Use of Cloned Sequences of the Hypoxanthine-Guanine Phosphoribosyltransferase Gene

  • A. C. Chinault
  • J. Brennand
  • D. S. Konecki
  • R. L. Nussbaum
  • C. T. Caskey
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

The hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been one of the most extensively used loci for the study of mutation in cultured mammalian cells. Such studies have been facilitated by the localization of the HPRT gene to the X-chromosome and the existence of powerful selection systems for the isolation of mutants and revertants. In addition, the fact that HPRT enzyme deficiency resulting from mutation of this gene in man leads to the X-linked recessive disorders of Lesch-Nyhan Syndrome and gouty arthritis makes it an excellent genetic locus for examination of the heterogeneity of spontaneous mutational events which occur in the human population. A large number of studies have focused on characterization of the gene product resulting from mutations at this locus by using immunological assays, kinetic and thermal sensitivity assays and peptide mapping (1). However, the detailed characterization of mutational events at the DNA level has not been possible due to the lack of appropriate molecular probes. Recently the availability of a mouse cell line with amplified HPRT genes has facilitated the cloning of HPRT cDNA recombinants (2). This report will briefly describe recent progress on the characterization of these cloned HPRT gene sequences and their use as probes to examine the genomic organization at the HPRT locus.

Keywords

Somatic Cell Hybrid Howard Hughes Medical Institute HPRT Gene HPRT Locus Mouse Neuroblastoma Cell Line 
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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Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • A. C. Chinault
    • 1
  • J. Brennand
    • 1
  • D. S. Konecki
    • 1
  • R. L. Nussbaum
    • 1
  • C. T. Caskey
    • 1
  1. 1.Howard Hughes Medical Institute Laboratories and Departments of Medicine and BiochemistryBaylor College of MedicineHoustonUSA

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