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Research Article Free access | 10.1172/JCI113846

Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

S Fujimori, B L Davidson, W N Kelley, and T D Palella

Department of Internal Medicine, University of Michigan Medical School, Ann Arbor 48109.

Find articles by Fujimori, S. in: PubMed | Google Scholar

Department of Internal Medicine, University of Michigan Medical School, Ann Arbor 48109.

Find articles by Davidson, B. in: PubMed | Google Scholar

Department of Internal Medicine, University of Michigan Medical School, Ann Arbor 48109.

Find articles by Kelley, W. in: PubMed | Google Scholar

Department of Internal Medicine, University of Michigan Medical School, Ann Arbor 48109.

Find articles by Palella, T. in: PubMed | Google Scholar

Published January 1, 1989 - More info

Published in Volume 83, Issue 1 on January 1, 1989
J Clin Invest. 1989;83(1):11–13. https://doi.org/10.1172/JCI113846.
© 1989 The American Society for Clinical Investigation
Published January 1, 1989 - Version history
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Abstract

Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) causes the Lesch-Nyhan syndrome. Previous characterization of a mutant form of HPRT, HPRTYale, from a subject with the Lesch-Nyhan syndrome revealed normal mRNA and protein concentrations, no residual catalytic activity, and cathodal migration upon PAGE. We have cloned and sequenced HPRTYale cDNA. The nucleotide sequence of full-length HPRTYale cDNA revealed a single nucleotide substitution compared with normal HPRT cDNA: G----C at nucleotide position 211. This transversion predicts substitution of arginine for glycine at amino acid position 71, explaining the cathodal migration of HPRTYale. Chou-Fasman secondary structure analysis predicts a change in the probability of beta-turn formation in the region containing the mutation. Inclusion of the bulky arginine side chain in place of glycine probably disrupts protein folding as well. Cloning mutant forms of cDNA allows identification of specific mutations, provides insight into mutational mechanisms, and facilitates structure-function analysis of mutant proteins.

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