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. 1991 Jan;48(1):103–107.

A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.

A Mimori 1, Y Hidaka 1, V C Wu 1, S A Tarlé 1, N Kamatani 1, W N Kelley 1, T D Pallela 1
PMCID: PMC1682758  PMID: 1985452

Abstract

Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder which causes 2,8-dihydroxy-adenine urolithiasis. The estimated incidence of heterozygosity in Caucasian and Japanese populations is 1%. Mutant alleles responsible for the disease have been classified as APRT*Q0 (type I) and APRT* (type II). In our previous study, we demonstrated in APRT*J a single common base change which accounts for 70% of the Japanese mutants. The present report describes the analysis of an APRT*Q0 mutation in Japanese subjects. Two nucleotide substitutions common to all seven affected alleles from four unrelated subjects (three homozygotes and a heterozygote) were identified: G----A at nucleotide position 1453 and C----T at 1456. The G----A altered the amino acid Trp98 to a stop codon. The C----T did not alter Ala99. These point mutations were demonstrated by sequence analysis of polymerase chain reaction (PCR)-amplified genomic DNA and cDNA. The G----A change at 1453 results in the elimination of a PflMI site in the APRT gene. PflMI digests, which were used to confirm the G----A transition, can be useful in screening for this specific mutation.

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Selected References

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  1. Brawerman G. mRNA decay: finding the right targets. Cell. 1989 Apr 7;57(1):9–10. doi: 10.1016/0092-8674(89)90166-9. [DOI] [PubMed] [Google Scholar]
  2. Broderick T. P., Schaff D. A., Bertino A. M., Dush M. K., Tischfield J. A., Stambrook P. J. Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement. Proc Natl Acad Sci U S A. 1987 May;84(10):3349–3353. doi: 10.1073/pnas.84.10.3349. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Davidson B. L., Tarlé S. A., Palella T. D., Kelley W. N. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. J Clin Invest. 1989 Jul;84(1):342–346. doi: 10.1172/JCI114160. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Fujimori S., Akaoka I., Sakamoto K., Yamanaka H., Nishioka K., Kamatani N. Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies. Hum Genet. 1985;71(2):171–176. doi: 10.1007/BF00283377. [DOI] [PubMed] [Google Scholar]
  5. Gubler U., Hoffman B. J. A simple and very efficient method for generating cDNA libraries. Gene. 1983 Nov;25(2-3):263–269. doi: 10.1016/0378-1119(83)90230-5. [DOI] [PubMed] [Google Scholar]
  6. Hidaka Y., Palella T. D., O'Toole T. E., Tarlé S. A., Kelley W. N. Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. J Clin Invest. 1987 Nov;80(5):1409–1415. doi: 10.1172/JCI113219. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Hidaka Y., Tarlé S. A., Fujimori S., Kamatani N., Kelley W. N., Palella T. D. Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. J Clin Invest. 1988 Mar;81(3):945–950. doi: 10.1172/JCI113408. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Hidaka Y., Tarlé S. A., O'Toole T. E., Kelley W. N., Palella T. D. Nucleotide sequence of the human APRT gene. Nucleic Acids Res. 1987 Nov 11;15(21):9086–9086. doi: 10.1093/nar/15.21.9086. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Kamatani N., Kuroshima S., Terai C., Hidaka Y., Palella T. D., Nishioka K. Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage. Am J Hum Genet. 1989 Aug;45(2):325–331. [PMC free article] [PubMed] [Google Scholar]
  10. Kamatani N., Sonoda T., Nishioka K. Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. J Urol. 1988 Dec;140(6):1470–1472. doi: 10.1016/s0022-5347(17)42075-1. [DOI] [PubMed] [Google Scholar]
  11. Kamatani N., Terai C., Kuroshima S., Nishioka K., Mikanagi K. Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies. Hum Genet. 1987 Feb;75(2):163–168. doi: 10.1007/BF00591080. [DOI] [PubMed] [Google Scholar]
  12. Kelley W. N., Levy R. I., Rosenbloom F. M., Henderson J. F., Seegmiller J. E. Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. J Clin Invest. 1968 Oct;47(10):2281–2289. doi: 10.1172/JCI105913. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Keohavong P., Thilly W. G. Fidelity of DNA polymerases in DNA amplification. Proc Natl Acad Sci U S A. 1989 Dec;86(23):9253–9257. doi: 10.1073/pnas.86.23.9253. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. McConlogue L., Brow M. A., Innis M. A. Structure-independent DNA amplification by PCR using 7-deaza-2'-deoxyguanosine. Nucleic Acids Res. 1988 Oct 25;16(20):9869–9869. doi: 10.1093/nar/16.20.9869. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Mullis K. B., Faloona F. A. Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol. 1987;155:335–350. doi: 10.1016/0076-6879(87)55023-6. [DOI] [PubMed] [Google Scholar]
  16. Nobori T., Kamatani N., Mikanagi K., Nishida Y., Nishioka K. Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies. Biochem Biophys Res Commun. 1986 Jun 30;137(3):998–1005. doi: 10.1016/0006-291x(86)90324-4. [DOI] [PubMed] [Google Scholar]
  17. O'Toole T. E., Wilson J. M., Gault M. H., Kelley W. N. Human adenine phosphoribosyltransferase: characterization from subjects with a deficiency of enzyme activity. Biochem Genet. 1983 Dec;21(11-12):1121–1134. doi: 10.1007/BF00488464. [DOI] [PubMed] [Google Scholar]
  18. Saiki R. K., Gelfand D. H., Stoffel S., Scharf S. J., Higuchi R., Horn G. T., Mullis K. B., Erlich H. A. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988 Jan 29;239(4839):487–491. doi: 10.1126/science.2448875. [DOI] [PubMed] [Google Scholar]
  19. Sanger F., Nicklen S., Coulson A. R. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463–5467. doi: 10.1073/pnas.74.12.5463. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Stambrook P. J., Dush M. K., Trill J. J., Tischfield J. A. Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants. Somat Cell Mol Genet. 1984 Jul;10(4):359–367. doi: 10.1007/BF01535631. [DOI] [PubMed] [Google Scholar]
  21. Tischfield J. A., Ruddle F. H. Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization. Proc Natl Acad Sci U S A. 1974 Jan;71(1):45–49. doi: 10.1073/pnas.71.1.45. [DOI] [PMC free article] [PubMed] [Google Scholar]

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