Single-cell, locus-specific bisulfite sequencing (SLBS) for direct detection of epimutations in DNA methylation patterns

Nucleic Acids Res. 2015 Aug 18;43(14):e93. doi: 10.1093/nar/gkv366. Epub 2015 Apr 19.


Stochastic epigenetic changes drive biological processes, such as development, aging and disease. Yet, epigenetic information is typically collected from millions of cells, thereby precluding a more precise understanding of cell-to-cell variability and the pathogenic history of epimutations. Here we present a novel procedure for directly detecting epimutations in DNA methylation patterns using single-cell, locus-specific bisulfite sequencing (SLBS). We show that within gene promoter regions of mouse hepatocytes the epimutation rate is two orders of magnitude higher than the mutation rate.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cells, Cultured
  • DNA Methylation*
  • Epigenesis, Genetic*
  • Genetic Loci
  • Mice
  • Mice, Inbred C57BL
  • Mutation Rate
  • Promoter Regions, Genetic
  • Sequence Analysis, DNA / methods*
  • Single-Cell Analysis
  • Sulfites*


  • Sulfites
  • hydrogen sulfite