Cell
Volume 16, Issue 1, January 1979, Pages 1-9
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Review
The HPRT locus

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  • Cited by (135)

    • Molecular characterization of hypoxanthine guanine phosphoribosyltransferase mutant T cells in human blood: The concept of surrogate selection for immunologically relevant cells

      2022, Mutation Research - Reviews in Mutation Research
      Citation Excerpt :

      HPRT mutants are resistant to 6TG allowing them to be cultured under these conditions [3]. Although expressed constitutively, the HPRT gene (and HPRT) is dispensable for cell survival in that HPRT mutant cells in culture have normal growth [20], due to the complementary de novo purine biosynthetic pathway [12]. To this point, T cell responses, as well as B cell responses, to in vitro mitogenic and antigenic stimulation were shown to be ‘normal’ in Lesch-Nyhan patients with HPRT defects [21,22].

    • Mutagenicity monitoring in humans: Global versus specific origin of mutations

      2020, Mutation Research - Reviews in Mutation Research
      Citation Excerpt :

      The HPRT mutation leading to an enzyme deficiency first came to scientific attention more than 50 years ago, when it was recognized as the defect underlying a severe congenital neurological disorder, now known as the Lesch- Nyhan syndrome [108,109]. Since mutation of HPRT also confers a phenotype at the single-cell level, the utility of this gene for basic genetic studies was quickly recognized [110]. HPRT is a single-copy gene located on the X-chromosome [111].

    • Lymphocyte Hprt mutant frequency and sperm toxicity in C57BL/6 mice treated chronically with Azathioprine

      2005, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
    • Functional complementation of a genetic deficiency with human artificial chromosomes

      2001, American Journal of Human Genetics
      Citation Excerpt :

      We constructed a HAC vector for the transfer of a human marker gene, containing alphoid DNA from the centromere of chromosome 17, telomeric sequences, and, from human Xq26.2, a large genomic segment spanning the hypoxanthine guanine phosphoribosyltransferase (HPRT) locus, HPRT1 (MIM 308000; Project Ensembl) (Mejía and Larin 2000). HPRT1 encodes a purine-salvage enzyme, and mutations in this gene result in Lesch-Nyhan syndrome (MIM 300322), a neurodevelopmental disorder characterized by self-injurious and abnormal motor behavior (Caskey and Kruh 1979). In this study, we introduced the HAC vector into HPRT-deficient human fibrosarcoma cells and obtained stable artificial minichromosomes that complemented the HPRT− phenotype of the host cells.

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