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Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRTAnn Arbor)

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Summary

HPRTAnn Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in two brothers with hyperuricemia and nephrolithiasis. In previous studies, this mutant enzyme was characterized by an increased Km for both substrates, a normal Vmax, a decreased intracellular concentration of enzyme protein, a normal subunit molecular weight and an acidic isoelectric point under native isoelectric focusing conditions. We have cloned a full-length cDNA for HPRTAnn Arbor and determined its complete nucleotide sequence. A single nucleotide change (T→G) at nucleotide position 396 has been identified. This transversion predicts an amino acid substitution from isoleucine (ATT) to methionine (ATG) in codon 132, which is located within the putative 5′-phosphoribosyl-1-pyrophosphate (PRPP)-binding site of HPRT.

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Authors and Affiliations

  1. Department of Internal Medicine, University of Michigan, 1150 West Medical Center Drive, 5520 Medical Science Research Building I, 48109, Ann Arbor, MI, USA

    Shin Fujimori, Yuji Hidaka, Thomas D. Palella & William N. Kelley

  2. Department of Biological Chemistry, University of Michigan, 48109, Ann Arbor, MI, USA

    Beverly L. Davidson & William N. Kelley

Authors
  1. Shin Fujimori
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  2. Yuji Hidaka
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  3. Beverly L. Davidson
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  4. Thomas D. Palella
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  5. William N. Kelley
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Fujimori, S., Hidaka, Y., Davidson, B.L. et al. Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRTAnn Arbor) . Hum Genet 79, 39–43 (1988). https://doi.org/10.1007/BF00291707

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  • DOI: https://doi.org/10.1007/BF00291707

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