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Research Article Free access | 10.1172/JCI113219

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

Y Hidaka, T D Palella, T E O'Toole, S A Tarlé, and W N Kelley

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

Find articles by Hidaka, Y. 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

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

Find articles by O'Toole, T. in: PubMed | Google Scholar

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

Find articles by Tarlé, S. 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

Published November 1, 1987 - More info

Published in Volume 80, Issue 5 on November 1, 1987
J Clin Invest. 1987;80(5):1409–1415. https://doi.org/10.1172/JCI113219.
© 1987 The American Society for Clinical Investigation
Published November 1, 1987 - Version history
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Abstract

This study reports the first demonstration of specific mutations leading to human adenine phosphoribosyltransferase (APRT) deficiency. The molecular basis of the deficiency was investigated by determining the sequence of both alleles of a patient with a complete deficiency in APRT activity. A trinucleotide deletion, corresponding to phenylalanine on the deduced amino acid sequence, was confirmed on one allele. A single nucleotide insertion, immediately adjacent to the splice site at the 5' end of the fourth intervening sequence, was confirmed on the other allele. This insertion lead to aberrant splicing, as was demonstrated by the absence of exon 4 in the complementary DNA sequence and by altered RNase mapping analysis of the abnormal messenger RNA.

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