Scientists Provide First Map of Complete Human Epigenome

FRIDAY, Oct. 16 (HealthDay News) -- Researchers have developed the first detailed map of the human epigenome, gaining greater understanding of the body's genetic makeup.

"In the past, we've been limited to viewing small snippets of the epigenome," Joseph Ecker, professor and director of the Genomic Analysis Laboratory at the Salk Institute for Biological Studies in La Jolla, Calif., and senior author of a new study, said in an institute news release. "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."

The researchers, who report their findings in the Oct. 14 online edition of the journal Nature, compared stem cells from embryos to cells from the lungs called fibroblasts. This allowed them to uncover chemical signposts called methyl-groups.

The research allowed the study authors to gain greater understanding of unique DNA patterns in stem cells, which have the ability to become cells of different parts of the body.

The study of the epigenome is important for treatment of disease because epigenetic changes can play a part in how diseases such as cancer develop in the body. By understanding the epigenome, scientists hope they can develop more effective drugs, the researchers noted.

"Unless we know how these drugs affect the entire epigenome, we don't really understand their full mechanism of action," Ecker stated in the news release.

Last year, the U.S. National Institutes of Health helped create a five-year, $190-million "Roadmap Epigenomics Program." The idea is to study changes that alter the way genes work.

"This will help us better understand how a diseased cell differs from a normal cell, which will enhance our understanding of the pathways of various diseases," Linda Birnbaum, director of the National Institute of Environmental Health Sciences, noted in the news release. "The science has matured to a point that we can now map the epigenome of a cell."

More information

Learn about the Human Genome Project from the U.S. Department of Energy Office of Science.