Epigenetic modifications and human disease

Nat Biotechnol. 2010 Oct;28(10):1057-68. doi: 10.1038/nbt.1685.


Epigenetics is one of the most rapidly expanding fields in biology. The recent characterization of a human DNA methylome at single nucleotide resolution, the discovery of the CpG island shores, the finding of new histone variants and modifications, and the unveiling of genome-wide nucleosome positioning maps highlight the accelerating speed of discovery over the past two years. Increasing interest in epigenetics has been accompanied by technological breakthroughs that now make it possible to undertake large-scale epigenomic studies. These allow the mapping of epigenetic marks, such as DNA methylation, histone modifications and nucleosome positioning, which are critical for regulating gene and noncoding RNA expression. In turn, we are learning how aberrant placement of these epigenetic marks and mutations in the epigenetic machinery is involved in disease. Thus, a comprehensive understanding of epigenetic mechanisms, their interactions and alterations in health and disease, has become a priority in biomedical research.

Publication types

  • Review

MeSH terms

  • Amino Acid Sequence
  • Autoimmune Diseases / genetics
  • DNA Methylation / genetics
  • Disease / genetics*
  • Epigenesis, Genetic*
  • Histones / chemistry
  • Histones / metabolism
  • Humans
  • Molecular Sequence Data
  • Nerve Degeneration / genetics


  • Histones