Global project boosts understanding of human epigenome

Vancouver, BC – Research from the BC Cancer Agency was featured on February 18 in the journal Nature as part of a special issue highlighting 20 papers that are the outcome of a seven-year project mapping the epigenome.

The term “genome” refers to all the DNA within a cell, and the term “epigenome” refers to the chemical modifications of DNA and proteins that control the structure and activity of the genome. Epigenomes either cause the genome to stay healthy or develop diseases, such as cancer, because they produce the code for cellular properties that distinguish one cell type from another. A better understanding of the epigenome may assist in the design of new treatments.

The project, called The National Institutes of Health (NIH) Roadmap Epigenomics Program, provides a core set of data, methodology and infrastructure for studying the role of the epigenome in human health and disease. The original goal was to map 25 normal reference epigenomes, but new technology allowed the team to produce 111 highly detailed maps on how the epigenome varies and operates in different settings.

Dr. Martin Hirst, head of epigenomics at the BC Cancer Agency Genome Sciences Centre, is a senior author of the paper Integrative analysis of 111 reference human epigenomes, which integrates all 111 epigenomes into a single comparative analysis. Dr. Hirst and his colleagues are also publishing an in-depth analysis of human breast cell epigenomes, epigenetic and transcriptional determinant of the human breast.

The Roadmap Epigenomics Program was the first large-scale epigenome mapping initiative in the world, and has inspired similar mapping efforts, which are united by the International Human Epigenome Consortium (IHEC). The IHEC aims to coordinate the production of at least 1,000 human epigenome maps.

Just as the Human Genome Project provided a map of the genes of the human genome, the Roadmap Epigenomics Program offers a resource for understanding how our genetic blueprint is interpreted in different cell and tissue types. The next step will be to map the epigenetic profiles of individuals to understand more about how they vary from person to person and to establish causes between any of these “epigenomic marks” and disease.

The BC Cancer Agency was part of a team that included the University of California, San Francisco, the University of Southern California, the University of California, Santa Cruz, Washington University, Simon Fraser University, and the University of British Columbia.