Epigenetics in humans: an overview

Curr Opin Endocrinol Diabetes Obes. 2010 Dec;17(6):493-9. doi: 10.1097/MED.0b013e3283404f4b.


Purpose of review: The purpose of review is to describe the recent advances in the field of human epigenetics.

Recent findings: With the completion of the genome project in 2003, high expectations existed for the DNA sequence information to provide answers about the causative mutations for common diseases. However, this was not completely the case. Another interesting finding that resulted from the genome project was that the perceived level of complexity of humans was not accompanied with a relative increase in the number of genes when compared to 'lower species'. Epigenetics is able to provide answers to previously unanswered health-related questions and can explain differences in level of complexity between organisms. Epigenetic studies accomplished in the last few years have exposed a very complex multilayered regulatory mechanism that is able to answer previously puzzling questions in biology.

Summary: Understanding and interpretation of the role for epigenetic modifications in the human genome has progressed rapidly over the past decade with the advancement of microarray-based and sequence-based technologies. The complex interaction between DNA methylation, histone modifications, protein complexes and microRNAs has become better appreciated in the context of both local and long range epigenetic control of transcription in both normal cellular differentiation and tumorigenesis.

Publication types

  • Review

MeSH terms

  • Animals
  • DNA Methylation
  • Epigenesis, Genetic*
  • Epigenomics / methods
  • Epigenomics / trends*
  • Genome, Human
  • Histones / metabolism
  • Humans
  • MicroRNAs / physiology


  • Histones
  • MicroRNAs