The first complete human epigenome mapped

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London, Oct 15 (ANI): Scientists at the Salk Institute have released the first study that maps a human epigenome, showing how the genome is regulated in developed cells.

The study is the first high-resolution map of an epigenome on a human genome and the first paper published by the Roadmap Epigenetic Program, a five-year study launched by the National Institute of Health in 2008.

Medical scientists believe that epigenetics will have many direct applications in the treatment of medical disorders and diseases.

"In the past we've been limited to viewing small snippets of the epigenome," says senior author Joseph Ecker, Ph.D., professor and director of the Genomic Analysis Laboratory at the Salk Institute and a member of the San Diego Epigenome Center.

"Being able to study the epigenome in its entirety will lead to a better understanding of how genome function is regulated in health and disease but also how gene expression is influenced by diet and the environment," Ecker added.

The study compared the epigenomes of human embryonic stem cells and differentiated connective cells from the lung called fibroblasts, revealing a highly dynamic, yet tightly controlled, landscape of chemical signposts known as methyl-groups.

The head-to-head comparison brought to light a novel DNA methylation pattern unique to stem cells, which may explain how stem cells establish and maintain their pluripotent state, the researchers say.

Ecker's group will now begin to examine how it changes during normal development as well as examining a variety of disease states.

"For the first time, we will be able to see the fine details of how DNA methylation changes in stem cells and other cells as they grow and develop into new cell types," he said.

"We believe this knowledge will be extremely valuable for understanding diseases such as cancer and possibly even mental disorders. Right now we just don't know how the epigenome changes during the aging process or how the epigenome is impacted by our environment or diet," he added.

The study has been published in the Oct. 14, 2009 advance online edition of the journal Nature. (ANI)

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