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

研究成果: Article査読

36 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)349-358
ページ数10
ジャーナルMGG Molecular & General Genetics
219
3
DOI
出版ステータスPublished - 1989 11月
外部発表はい

ASJC Scopus subject areas

  • 遺伝学

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