Quantitative Analysis of the Rates for Repeat-Mediated Genome Instability in a Yeast Experimental System

Methods Mol Biol. 2018:1672:421-438. doi: 10.1007/978-1-4939-7306-4_29.

Abstract

Instability of repetitive DNA sequences causes numerous hereditary disorders in humans, the majority of which are associated with trinucleotide repeat expansions. Here, we describe a unique system to study instability of triplet repeats in a yeast experimental setting. Using fluctuation assay and the novel program FluCalc we are able to accurately estimate the rates of large-scale expansions, as well as repeat-mediated mutagenesis and gross chromosomal rearrangements for different repeat sequences.

Keywords: Expansion rate; FluCalc; Fluctuation assay; MSS-MLE; Mutation rate; Repeat expansions; Repeat-induced mutagenesis; Trinucleotide repeats.

MeSH terms

  • Genome, Fungal*
  • Genomic Instability*
  • Mutagenesis
  • Mutation Rate
  • Repetitive Sequences, Nucleic Acid*
  • Saccharomyces cerevisiae / genetics
  • Trinucleotide Repeat Expansion
  • Trinucleotide Repeats
  • Yeasts / genetics*