Literature DB >> 6853490

Human hypoxanthine-guanine phosphoribosyltransferase.

J M Wilson, R Kobayashi, I H Fox, W N Kelley.   

Abstract

A mutant form of human hypoxanthine-guanine phosphoribosyltransferase (HPRTToronto) was isolated from erythrocytes of a male patient with gout due to a partial deficiency of enzyme activity. The tryptic peptides of HPRTToronto were mapped by reverse-phase high pressure liquid chromatography in an attempt to define the precise abnormality in its primary structure. Sequence analysis of the single aberrant peptide in HPRTToronto revealed an arginine to glycine amino acid substitution at position 50. A single nucleotide change in the codon for arginine 50 (CGA leads to GGA) could explain this substitution.

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Year:  1983        PMID： 6853490

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


  12 in total

1.  The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

Authors:  T Lightfoot; R Joshi; G Nuki; F F Snyder
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

2.  Biochemical genetics of HPRT Cape Town: is the defect in the HPRT gene?

Authors:  T Galloon; E H Harley
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  Inherited disorders of purine metabolism--underlying molecular mechanisms.

Authors:  W Gutensohn
Journal:  Klin Wochenschr       Date:  1984-10-15

4.  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

5.  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

6.  Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene.

Authors:  D W Melton; D S Konecki; J Brennand; C T Caskey
Journal:  Proc Natl Acad Sci U S A       Date:  1984-04       Impact factor: 11.205

7.  Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).

Authors:  M J Saraiva; S Birken; P P Costa; D S Goodman
Journal:  J Clin Invest       Date:  1984-07       Impact factor: 14.808

8.  A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

Authors:  J M Wilson; J T Stout; T D Palella; B L Davidson; W N Kelley; C T Caskey
Journal:  J Clin Invest       Date:  1986-01       Impact factor: 14.808

9.  Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.

Authors:  S Fujimori; I Akaoka; K Sakamoto; H Yamanaka; K Nishioka; N Kamatani
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

10.  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
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