Characterization and Use of Cloned Sequences of the Hypoxanthine-Guanine Phosphoribosyltransferase Gene
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.
KeywordsSomatic Cell Hybrid Howard Hughes Medical Institute HPRT Gene HPRT Locus Mouse Neuroblastoma Cell Line
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