Given all the coverage, most people have heard about the ‘mapping of the human genome.’ It was a big project, taking many years (1990-2003) and costing about three billion dollars. Typically it was heralded as ‘one of the greatest scientific achievements of the century.’ It was that, although among those involved it was clearly a starting point, not the be-all-end-all. One of the most important areas to be explored, beyond the mapping of the genome, is the human epigenome – that part of the cell responsible for transcribing and translating the DNA code of the genome. The full mapping of the epigenome is likely to be as big a story as that of the genome mapping – except with today’s science-impaired media it won’t get the coverage. One of the first major steps in the epigenome mapping was recently announced, as described here by AAAS (American Association for the Advancement of Science):

Although the human genome sequence faithfully lists (almost) every single DNA base of the roughly 3 billion bases that make up a human genome, it doesn’t tell biologists much about how its function is regulated. Now, researchers at the Salk Institute provide the first detailed map of the human epigenome, the layer of genetic control beyond the regulation inherent in the sequence of the genes themselves.

“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.”

“This paper exemplifies the goals of the NIH Roadmap for Medical Research’s Epigenomics Program,” said Linda Birnbaum, Ph.D., director of the National Institute of Environmental Health Sciences, one of the NIH institutes funding this program. “The science has matured to a point that we can now map the epigenome of a cell. This paper documents the first complete mapping of the methylome, a subset of the entire epigenome, of 2 types of human cells – an embryonic stem cell and a human fibroblast line. 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.”

[Source: AAAS:]