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Mutagenesis vol. 5 no. 5 pp. 505-510, 1990
© 1990 UK Environmental Mutagen Society/Oxford University Press

research-article

DNA sequence analysis of in vivo hprt mutation in human T lymphocytes

Leslie Recio1, Judi Cochrane1, Deborah Simpson1, Thomas R. Skopek1,3,4, J.Patrick O'Neill2, Janice A. Nicklas2 and Richard J. Albertini2

1Department of Cellular and Molecular Toxicology, Chemical Industry Institute of Toxicology, Research Triangle Park NC 27709 USA 2Genetics Laboratory, University of Vermont 32 North Prospect Street, Burlington, VT 05401, USA

We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (hprt) mutations that arose in vivo in the T lymphocytes of a normal male subject. In previous studies ~16% (23/141) of the mutants from this individual analyzed by Southern blot displayed large structural alterations in hprt. Thirty-two mutants without these large hprt structural alterations produced sufficient hprt cDNA for polymerase chain reaction amplification and DNA sequence analysis. Base substitutions in hprt cDNA resulting in missense mutations and one mRNA splicing aberration (inclusion of intron sequences) were observed in 18/32 of these these mutants; substitutions occurred at both AT and GC base pairs. Small deletions (3/32), a tandem change and a single base insertion were also observed among the hprt cDNAs. Exon skipping and inclusion of hprt intron sequences in the hprt cDNA were observed in an additional 9/32 of the mutants. Analysis of T cell receptor (TCR) gene rearrangements revealed that six of eight mutants with an identical hprt T—A transversion displayed the same TCR rearrangement pattern, indicating that they were clonally related and arose from a single in vivo mutational event.

3Present address: Department of Pathology, University of North Carolina Chapel Hill, NC 27514, USA

4To whom correspondence should be addressed


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