Spectrum of spontaneous mutations in a cDNA of the human hprt gene integrated in chromosomal DNA

Hironobu Ikehata, Toshiaki Akagi, Hiroshi Kimura, Susumu Akasaka, Takesi Kato

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Altered sequences were determined of 52 independent spontaneous mutations occuring in a cDNA of the human hypoxanthine phosphoribosyltransferase (hprt) gene, which was integrated into chromosomal DNA of the mouse cell as a part of the retroviral shuttle vector. Spontaneous mutations comprised a variety of events: base substitutions, frameshifts, deletions, duplications, and complex mutational events, and were distributed randomly over the coding region of the gene. Frameshifts were the most frequent mutational event (38%), and base substitutions were the next most frequent (25%), followed by deletions (19%). Frameshift and deletion mutations commonly occurred preferentially at sites flanked by short direct repeats. Short inverted repeats were frequently found to be associated with duplication and complex mutational events. Analysis of the sequence alterations in the mutant genes suggests that misalignment mutagenesis represents an important molecular mechanism for the generation of spontaneous mutations in eukaryotic cells.

Original languageEnglish
Pages (from-to)349-358
Number of pages10
JournalMGG Molecular & General Genetics
Volume219
Issue number3
DOIs
Publication statusPublished - 1989 Nov 1
Externally publishedYes

Keywords

  • Human hprt cDNA
  • Misalignment mutagenesis
  • Spectrum
  • Spontaneous mutation
  • pZip shuttle

ASJC Scopus subject areas

  • Genetics

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