Hum Genet. 1988 May;79(1):39-43.

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

Fujimori S, Hidaka Y, Davidson BL, Palella TD, Kelley WN.

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Department of Internal Medicine, University of Michigan, Ann Arbor 48109.

Abstract

HPRT Ann Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in wo 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 HPRT Ann 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.

PMID:: 2896620; [PubMed - indexed for MEDLINE]

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Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. [Proc Natl Acad Sci U S A. 1983]
Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.
Wilson JM, Tarr GE, Kelley WN. Proc Natl Acad Sci U S A. 1983 Feb; 80(3):870-3.
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland). [Gene. 1988]
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).
Davidson BL, Palella TD, Kelley WN. Gene. 1988 Aug 15; 68(1):85-91.
A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease. [Hum Genet. 1992]
A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.
Fujimori S, Tagaya T, Kamatani N, Akaoka I. Hum Genet. 1992 Dec; 90(4):385-8.
Review Genetic analysis of human hypoxanthine-guanine phosphoribosyltransferase deficiency. [Enzyme. 1987]
Review Genetic analysis of human hypoxanthine-guanine phosphoribosyltransferase deficiency.
Silverman LJ, Kelley WN, Palella TD. Enzyme. 1987; 38(1-4):36-44.
Review [Hypoxanthine guanine phosphoribosyl transferase]. [Nihon Rinsho. 1996]
Review [Hypoxanthine guanine phosphoribosyl transferase].
Ogasawara N. Nihon Rinsho. 1996 Dec; 54(12):3207-12.

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Cited by 3 PubMed Central articles

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. [Proc Natl Acad Sci U S A. 1989]
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT. Proc Natl Acad Sci U S A. 1989 Mar; 86(6):1919-23.
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. [J Clin Invest. 1989]
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
Fujimori S, Davidson BL, Kelley WN, Palella TD. J Clin Invest. 1989 Jan; 83(1):11-3.
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. [J Clin Invest. 1989]
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.
Davidson BL, Tarlé SA, Palella TD, Kelley WN. J Clin Invest. 1989 Jul; 84(1):342-6.

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Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).
Hum Genet. 1988 May ;79(1):39-43.

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

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