Mouse transgenes in human cells detect specific base substitutions

D. A. Schaff, R. A. Jarrett, S. R. Dlouhy, S. Ponniah, M. Stockelman, P. J. Stambrook, J. A. Tischfield

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


We describe a system of transgenic human cell lines that detects and identifies specific point mutations at defined positions within a gene. The target transgenome is a mouse adenine phosphoribosyltransferase (APRT) gene rendered nonfunctional by introduction of a substitution at either of two bases that comprise a splice acceptor site. Reversion at a mutated site results in the expression of wild-type mouse APRT and consequent growth of APRT+ transgenic cell colonies. Site-specific reversion to wild-type sequence is confirmed by regeneration of a previously destroyed diagnostic Pst I site. Two independent cell clones, each with mutant transgenomes bearing an A → G transition, exhibited an up to 7500-fold, dose-dependent induction of reversion following treatment with ethyl methanesulfonate. Treatment of these clones with 2-aminopurine resulted in no induction of revertants. In contrast, another transgenic cell clone, bearing a G → A transition, reverted as a consequence of 2-aminopurine, but not ethyl methanesulfonate, treatment. These data confirm for human cells the proposed mechanisms of action of these mutagens and provide evidence for the utility of our site-specific reversion method for mutagenesis studies.

Original languageEnglish (US)
Pages (from-to)8675-8679
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number21
StatePublished - 1990
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General


  • 2-aminopurine
  • adenine phosphoribosyltransferase
  • ethyl methanesulfonate
  • mutagenesis
  • splice junction


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