The fundamental roles of epigenetics in genome regulation make an understanding of mechanisms such as DNA methylation and histone modification an essential goal, both for basic and applied research. This web focus accompanies a special issue of Nature Reviews Genetics that explores a diverse range of areas in which an increased knowledge of epigenetics is having an impact.

The topics covered range from basic research in chromosome biology and gene regulation, to stem cell research, environmental epigenetics and cancer epigenomics, where exploring the role of epigenetics has the potential to lead to clinical advances. The accompanying library collects the most relevant recent publications from across Nature Publishing Group.

Research Highlights

Epigenetics: An eXpanding view of DNA methylation


Nature Reviews Genetics 8, 248

Epigenetics: We are family


Nature Reviews Genetics 8, 252



Environmental epigenomics and disease susceptibility

Randy L. Jirtle and Michael K. Skinner


Nature Reviews Genetics 8, 253-262

Epigenetic modifications provide a possible link between the environment and disease-causing alterations in gene expression. Evidence from animal studies increasingly supports this theory, including recent findings of epigenetically mediated transgenerational alterations in phenotype that are caused by environmental exposure.

Epigenetic signatures of stem-cell identity

Mikhail Spivakov and Amanda G. Fisher


Nature Reviews Genetics 8, 263-271

How do stem cells keep the genes that drive differentiation in a repressed state, while maintaining the ability to express them in the future? Increasing evidence indicates that distinctive epigenetic traits underlie this unique aspect of stem-cell biology.

Transposable elements and the epigenetic regulation of the genome

R. Keith Slotkin and Robert Martienssen


Nature Reviews Genetics 8, 272-285

Cells use a range of increasingly well understood epigenetic mechanisms to keep transposable elements under control. These silencing mechanisms have been co-opted during the course of evolution to contribute to key aspects of chromosome biology and gene regulation.

Cancer epigenomics: DNA methylomes and histone-modification maps

Manel Esteller


Nature Reviews Genetics 8, 286-298

Recent technological advances allow epigenetic alterations in cancer to be studied across the whole genome. These approaches are being used to answer key outstanding questions about cancer biology, and to provide new avenues for diagnostics, prognostics and therapy.

The epigenetic regulation of mammalian telomeres

María A. Blasco


Nature Reviews Genetics 8, 299-309

Epigenetic modifications are key players in the regulation of fly and yeast telomeres, and recent studies indicate that the same applies in mammalian cells. These findings have implications for our understanding of the roles of telomeres in ageing and cancer.


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