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Mol Genet Metab. 2003 Feb;78(2):158-61.

A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome.

Author information

1
Department of Clinical Biochemistry, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. shanie@post.tau.ac.il

Abstract

We identified a novel point mutation (I137T) in the hypoxanthine-guanine phosphoribosyltransferase (HPRT; EC 2.4.2.8) encoding gene, in a patient with partial deficiency of the enzyme (variant of Lesch-Nyhan syndrome). The mutation, ATT to ACT, resulting in substitution of isoleucine to threonine, occurred at codon 137 (exon 6), which is within the region encoding the binding site for 5-phosphoribosyl-1-pyrophosphate (PRPP). We suggest the mechanism by which the mutation-induced structural alteration of HPRT reduced the affinity of the enzyme for PRPP.

PMID:
12618088
DOI:
10.1016/s1096-7192(03)00002-7
[Indexed for MEDLINE]

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