Instability of simple sequence repeats in a mammalian cell line

Rosann A. Farber, Thomas D. Petes, Margaret Dominska, Sarah S. Hudgens, Robert (Mike) Liskay

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Abstract

Short tandem repeat sequences in the mammalian genome are considered to be unstable, since many of them are polymorphic in length; however, the extent of this instability has been difficult to quantitate. We have directly determined the rate of mutation of a simple sequence repeat in a mammalian cell line. A plasmid containing a dinucleotide repeat [poly(CA/GT)] that disrupts the reading frame of a downstream gene was integrated into the genome of a mouse cell line, and spontaneous revertants were selected. Reversion rates were more than 100 times higher in cells carrying the repeated sequence than in control cells that carried the same fusion gene with a 4-bp out-of-frame deletion. Revertant clones derived from the lines carrying the dinucleotide repeat had insertions or deletions of one or more repeat units.

Original languageEnglish (US)
Pages (from-to)253-256
Number of pages4
JournalHuman Molecular Genetics
Volume3
Issue number2
Publication statusPublished - Feb 1994

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ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Farber, R. A., Petes, T. D., Dominska, M., Hudgens, S. S., & Liskay, R. M. (1994). Instability of simple sequence repeats in a mammalian cell line. Human Molecular Genetics, 3(2), 253-256.