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

Sculley, Donna G., Dawson, Paul A., Emmerson, Bryan T. and Gordon, Ross B. (1992) A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Human Genetics, 90 3: 195-207.


Author Sculley, Donna G.
Dawson, Paul A.
Emmerson, Bryan T.
Gordon, Ross B.
Title A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency
Journal name Human Genetics   Check publisher's open access policy
ISSN 0340-6717
1432-1203
Publication date 1992-11
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1007/BF00220062
Volume 90
Issue 3
Start page 195
End page 207
Total pages 13
Place of publication Berlin ; Heidelberg ; New York
Publisher Springer-Verlag
Language eng
Subject 060412 Quantitative Genetics (incl. Disease and Trait Mapping Genetics)
Abstract Hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) is a purine salvage enzyme that catalyses the conversion of hypoxanthine and guanine to their respective mononucleotides. Partial deficiency of this enzyme can result in the overproduction of uric acid leading to a severe form of gout, whilst a virtual absence of HPRT activity causes the Lesch-Nyhan syndrome which is characterised by hyperuricaemia, mental retardation, choreoathetosis and compulsive self-mutilation. The HPRT-encoding gene is located on the X chromosome in the region q26–q27 and consists of nine exons and eight introns totalling 57 kb. This gene is transcribed to produce an mRNA of 1.6 kb, which contains a protein encoding region of 654 nucleotides. With the advent of increasingly refined techniques of molecular biology, it has been possible to study the HPRT gene of individuals with a deficiency in HPRT activity to determine the genetic basis of the enzyme deficiency. Many different mutations throughout the coding region have been described, but in the absence of precise information on the three-dimensional structure of the HPRT protein, it remains difficult to determine any consistent correlation between the structure and function of the enzyme.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collection: School of Biomedical Sciences Publications
 
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