Instability of simple sequence repeats in a mammalian cell line

Rosann A. Farber, Thomas D. Petes, Margaret Dominska, Sarah S. Hudgens, R. Michael Liskay

Research output: Contribution to journalArticlepeer-review

50 Scopus citations


Short tandem repeat sequences in the mammalian genome are considered to be unstable, since many of them are polymorphic ln length; however, the extent of this instability has been difficult to quantltate. 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 dinucleotlde 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
Issue number2
StatePublished - Feb 1994
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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