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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

We have investigated the molecular basis for a deficiency of the enzyme hypoxanthine (guanine) phosphoribosyltransferase (HPRT; IMP:pyrophosphate phosphoribosyltransferase, EC 2.4.2.8) in a patient with a severe form of gout. We reported in previous studies the isolation of a unique structural... Full description

1st Person: Wilson, James M.
Additional Persons: Tarr, George E. verfasserin; Kelley, William N. verfasserin
Source: in Proceedings of the National Academy of Sciences of the United States of America Vol. 80, No. 3 (1983), p. 870-873
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Type of Publication: Article
Language: English
Published: 1983
Keywords: research-article
Medical Sciences
Reverse-Phase HPLC
Peptide Mapping
Mutant Enzyme
Online: Volltext
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Summary: We have investigated the molecular basis for a deficiency of the enzyme hypoxanthine (guanine) phosphoribosyltransferase (HPRT; IMP:pyrophosphate phosphoribosyltransferase, EC 2.4.2.8) in a patient with a severe form of gout. We reported in previous studies the isolation of a unique structural variant of HPRT from this patient's erythrocytes and cultured lymphoblasts. This enzyme variant, which is called HPRTLondon, is characterized by a decreased concentration of HPRT protein in erythrocytes and lymphoblasts, a normal Vmax, a 5-fold increased Kmfor hypoxanthine, a normal isoelectric point, and an apparently smaller subunit molecular weight. Comparative peptide mapping experiments revealed a single abnormal tryptic peptide in HPRTLondon. Edman degradation of the aberrant peptide from HPRTLondonidentified a serine-to-leucine amino acid substitution at position 109. This substitution can be explained by a single nucleotide change in the codon for serine-109 (UCA → UUA). Thus a mutation at the HPRT locus has now been defined at the molecular level.
Physical Description: Online-Ressource
ISSN: 0027-8424

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