Literature DB >> 2896620

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

S Fujimori1, Y Hidaka, B L Davidson, T D Palella, W N Kelley.   

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.

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Year:  1988        PMID： 2896620     DOI： 10.1007/bf00291707

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  28 in total

1.  A specific enzyme defect in gout associated with overproduction of uric acid.

Authors:  W N Kelley; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1967-06       Impact factor: 11.205

2.  A simple and very efficient method for generating cDNA libraries.

Authors:  U Gubler; B J Hoffman
Journal:  Gene       Date:  1983-11       Impact factor: 3.688

3.  Efficient isolation of genes by using antibody probes.

Authors:  R A Young; R W Davis
Journal:  Proc Natl Acad Sci U S A       Date:  1983-03       Impact factor: 11.205

4.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

5.  Fine structure of the human hypoxanthine phosphoribosyltransferase gene.

Authors:  P I Patel; P E Framson; C T Caskey; A C Chinault
Journal:  Mol Cell Biol       Date:  1986-02       Impact factor: 4.272

6.  Purification of biologically active globin messenger RNA by chromatography on oligothymidylic acid-cellulose.

Authors:  H Aviv; P Leder
Journal:  Proc Natl Acad Sci U S A       Date:  1972-06       Impact factor: 11.205

7.  Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes.

Authors:  H V Hershey; M W Taylor
Journal:  Gene       Date:  1986       Impact factor: 3.688

8.  Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.

Authors:  T P Yang; P I Patel; A C Chinault; J T Stout; L G Jackson; B M Hildebrand; C T Caskey
Journal:  Nature       Date:  1984 Aug 2-8       Impact factor: 49.962

9.  Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.

Authors:  J M Wilson; B W Baugher; P M Mattes; P E Daddona; W N Kelley
Journal:  J Clin Invest       Date:  1982-03       Impact factor: 14.808

10.  Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.

Authors:  D J Jolly; H Okayama; P Berg; A C Esty; D Filpula; P Bohlen; G G Johnson; J E Shively; T Hunkapillar; T Friedmann
Journal:  Proc Natl Acad Sci U S A       Date:  1983-01       Impact factor: 11.205
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  10 in total

Review 1.  Reference genes for measuring mRNA expression.

Authors:  Jitesh Dundas; Maurice Ling
Journal:  Theory Biosci       Date:  2012-05-17       Impact factor: 1.919

2.  Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

Authors:  S Fujimori; B L Davidson; W N Kelley; T D Palella
Journal:  J Clin Invest       Date:  1989-01       Impact factor: 14.808

3.  Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

Authors:  B L Davidson; S A Tarlé; T D Palella; W N Kelley
Journal:  J Clin Invest       Date:  1989-07       Impact factor: 14.808

4.  Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

Authors:  T R Skopek; L Recio; D Simpson; L Dallaire; S B Melancon; H Ogier; J P O'Neill; M T Falta; J A Nicklas; R J Albertini
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

5.  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.

Authors:  S Fujimori; T Tagaya; N Kamatani; I Akaoka
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

6.  Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

Authors:  R A Gibbs; P N Nguyen; L J McBride; S M Koepf; C T Caskey
Journal:  Proc Natl Acad Sci U S A       Date:  1989-03       Impact factor: 11.205

7.  Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.

Authors:  S Fujimori; N Kamatani; Y Nishida; N Ogasawara; I Akaoka
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

Review 8.  A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Authors:  D G Sculley; P A Dawson; B T Emmerson; R B Gordon
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

9.  Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.

Authors:  J Tohyama; E Nanba; K Ohno
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

Review 10.  Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Authors:  Rong Fu; Irene Ceballos-Picot; Rosa J Torres; Laura E Larovere; Yasukazu Yamada; Khue V Nguyen; Madhuri Hegde; Jasper E Visser; David J Schretlen; William L Nyhan; Juan G Puig; Patrick J O'Neill; H A Jinnah
Journal:  Brain       Date:  2013-08-22       Impact factor: 13.501
  10 in total

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