Scientists Unveil Map of Human Epigenomes in Effort to Fight Disease

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Newswise Virtually every cell in the body carries an identical genome. But how is it possible that each of the bodys 200 different types of specialized cells in the heart, brain, bone, skin and elsewhere develops from the same DNA instruction book?

As it turns out, reading that instruction book and carrying out its directives are controlled by chemical markers that attach to DNA to activate or silence genes. These chemical markers, known as the epigenome, vary vastly from one cell type to another and, when disrupted, can play a role in the onset of many diseases, from cancer and Alzheimers disease to diabetes and autism. Probing the epigenome could improve scientists understanding of the molecular basis of disease and lead to new treatments.

Now, for the first time, researchers have assembled a comprehensive map of the human epigenome. The mapping, by scientists at Washington University School of Medicine in St. Louis and other institutions, includes detailed descriptions of the epigenetic markers in 111 types of cells and tissues. Partial epigenome mapping is available for many other cell types, and new information will be added as it becomes available.

The research is published Feb. 18 in the journal Nature. More than 20 additional papers, including three by scientists at the School of Medicine, appear simultaneously in other Nature journals to show how epigenetic maps can be used to study human biology.

Weve only scratched the surface of the human epigenome, but this massive resource marks the beginning of an era, said a principal investigator of the epigenome mapping project, Ting Wang, PhD, assistant professor of genetics. We can now begin to describe humans in molecular detail.

We also can look closely at the epigenetic differences between cell types. We dont yet understand what those differences mean or what epigenetic changes drive cell specialization or the initiation of disease. But thats where were headed. This resource opens up many new doors in biology and the biomedical sciences.

The epigenome also lies at the intersection of the genome and the environment. People have little control over their DNA, but epigenomes are dynamic and potentially can be altered by changes in lifestyle, such as diet and exercise, or by pharmaceuticals. That makes the epigenome a critical player in health and disease.

The mapping initiative, referred to as the Roadmap Epigenomics Program, is funded by the National Institutes of Health (NIH) Common Fund.

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Scientists Unveil Map of Human Epigenomes in Effort to Fight Disease