A genome-wide view of the spectrum of spontaneous mutations in yeast

Michael Lynch, Way Sung, Krystalynne Morris, Nicole Coffey, Christian R. Landry, Erik B. Dopman, W. Joseph Dickinson, Kazufusa Okamoto, Shilpa Kulkarni, Daniel L. Hartl, W. Kelley Thomas

Research output: Contribution to journalArticlepeer-review

518 Scopus citations


The mutation process ultimately defines the genetic features of all populations and, hence, has a bearing on a wide range of issues involving evolutionary genetics, inheritance, and genetic disorders, including the predisposition to cancer. Nevertheless, formidable technical barriers have constrained our understanding of the rate at which mutations arise and the molecular spectrum of their effects. Here, we report on the use of complete-genome sequencing in the characterization of spontaneously arising mutations in the yeast Saccharomyces cerevisiae. Our results confirm some findings previously obtained by indirect methods but also yield numerous unexpected findings, in particular a very high rate of point mutation and skewed distribution of base-substitution types in the mitochondrion, a very high rate of segmental duplication and deletion in the nuclear genome, and substantial deviations in the mutational profile among various model organisms.

Original languageEnglish (US)
Pages (from-to)9272-9277
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number27
StatePublished - Jul 8 2008
Externally publishedYes


  • Chromosomal instability
  • Mitochondrion
  • Mutation rate
  • Mutational spectrum
  • Saccharomyces cerevisiae

ASJC Scopus subject areas

  • General


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