Epigenetics – beyond genes

Box 3 | The Human Epigenome Project

Following the Human Genome Project, which was completed in 2003, the latest addition to the big human biology research efforts is the Human Epigenome Project (HEP), run by the Human Epigenome Consortium. The project aims to identify, catalogue and interpret the DNA methylation patterns of all human genes in all major tissues.

The Human Epigenome Consortium began with a pilot study in 2003 into the methylation patterns of a region of chromosome 6. This region carries genes crucial to the human immune system that have been implicated in many diseases, particularly autoimmune diseases such as diabetes and rheumatoid arthritis.

The study examined about 0.4 per cent of the genes in the human genome, identifying CpG positions that are variably methylated and involved in modifying gene activity. The study also developed automated methods to rapidly and accurately identify methylation patterns in a genome, simplifying the analysis of larger sections of the human epigenome.

In June 2006, the project released DNA methylation profiles of chromosomes 6, 20 and 22 for 12 different tissue types. The data accumulated by the project is publicly available for use in non-commercial research efforts.

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Page updated June 2007.