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

Esther Zoref-Shani; Yael Bromberg; Joel Hirsch; Sofia Feinstein; Yaacov Frishberg; Oded Sperling

doi:10.1016/S1096-7192(03)00002-7

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

Esther Zoref-Shani^*, Yael Bromberg, Joel Hirsch, Sofia Feinstein, Yaacov Frishberg, Oded Sperling

^*Corresponding author for this work

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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.

Original language	English
Pages (from-to)	158-161
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	78
Issue number	2
DOIs	https://doi.org/10.1016/S1096-7192(03)00002-7
State	Published - 1 Feb 2003

Keywords

5-Phosphoribosyl-1-pyrophosphate
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome
PRPP binding motif
Variants of Lesch-Nyhan syndrome

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10.1016/S1096-7192(03)00002-7

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Zoref-Shani, E., Bromberg, Y., Hirsch, J., Feinstein, S., Frishberg, Y., & Sperling, O. (2003). 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. Molecular Genetics and Metabolism, 78(2), 158-161. https://doi.org/10.1016/S1096-7192(03)00002-7

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title = "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",

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.",

keywords = "5-Phosphoribosyl-1-pyrophosphate, Hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, PRPP binding motif, Variants of Lesch-Nyhan syndrome",

author = "Esther Zoref-Shani and Yael Bromberg and Joel Hirsch and Sofia Feinstein and Yaacov Frishberg and Oded Sperling",

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Zoref-Shani, E, Bromberg, Y, Hirsch, J, Feinstein, S, Frishberg, Y & Sperling, O 2003, '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', Molecular Genetics and Metabolism, vol. 78, no. 2, pp. 158-161. https://doi.org/10.1016/S1096-7192(03)00002-7

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. / Zoref-Shani, Esther; Bromberg, Yael; Hirsch, Joel et al.
In: Molecular Genetics and Metabolism, Vol. 78, No. 2, 01.02.2003, p. 158-161.

Research output: Contribution to journal › Article › peer-review

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AU - Zoref-Shani, Esther

AU - Bromberg, Yael

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AU - Feinstein, Sofia

AU - Frishberg, Yaacov

AU - Sperling, Oded

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AB - 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.

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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

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