Nucleosomes suppress spontaneous mutations base-specifically in eukaryotes

Science. 2012 Mar 9;335(6073):1235-8. doi: 10.1126/science.1217580.

Abstract

It is unknown how the composition and structure of DNA within the cell affect spontaneous mutations. Theory suggests that in eukaryotic genomes, nucleosomal DNA undergoes fewer C→T mutations because of suppressed cytosine hydrolytic deamination relative to nucleosome-depleted DNA. Comparative genomic analyses and a mutation accumulation experiment showed that nucleosome occupancy nearly eliminated cytosine deamination, resulting in an ~50% decrease of the C→T mutation rate in nucleosomal DNA. Furthermore, the rates of G→T and A→T mutations were also about twofold suppressed by nucleosomes. On the basis of these results, we conclude that nucleosome-dependent mutation spectra affect eukaryotic genome structure and evolution and may have implications for understanding the origin of mutations in cancers and in induced pluripotent stem cells.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Pairing
  • Base Sequence
  • Caenorhabditis elegans / genetics*
  • Cytosine / chemistry
  • Cytosine / metabolism
  • DNA, Fungal / chemistry
  • DNA, Fungal / genetics
  • DNA, Helminth / chemistry
  • DNA, Helminth / genetics
  • DNA, Intergenic
  • Deamination
  • Genome, Fungal
  • Germ Cells
  • Models, Genetic
  • Mutation Rate*
  • Nucleosomes / chemistry*
  • Nucleosomes / physiology*
  • Oryzias / embryology
  • Oryzias / genetics*
  • Point Mutation*
  • Polymorphism, Single Nucleotide
  • Saccharomyces / genetics
  • Saccharomyces cerevisiae / genetics*
  • Sequence Analysis, DNA

Substances

  • DNA, Fungal
  • DNA, Helminth
  • DNA, Intergenic
  • Nucleosomes
  • Cytosine