An Epigenome consists of a record of the chemical changes to the DNA and histone proteins of an organism; these changes can be passed down to an organism's offspring. Changes to the epigenome can result in changes to the structure of chromatin and changes to the function of the genome.[1] Epigenetics is one of the current topics in cancer research drawing active research. Human tumors undergo a major disruption of DNA methylation and histone modification patterns. The aberrant epigenetic landscape of the cancer cell is characterized by a massive genomic hypomethylation, CpG island promoter hypermethylation of tumor suppressor genes, an altered histone code for critical genes and a global loss of monoacetylated and trimethylated histone H4.
Much of the subject matter is not yet fully understood. Some people have suggested a Human Epigenome Project.[2]
The Human Epigenome Consortium is a public/private collaboration that aims to identify and catalogue Methylation Variable Positions (MVPs) in the human genome. As a prelude to the full-scale Human Epigenome Project (HEP), scientists have recently completed a pilot study of the methylation patterns within the Major Histocompatibility Complex (MHC) - a region of chromosome 6 that is associated with more diseases than any other region in the human genome. They claim to have identified MVPs in the vicinity of the promoter and other relevant regions of approximately 150 loci within the MHC in tissues from a range of individuals. This will provide an unprecedented insight into the complex relationship between genetics and epigenetics that underlies both normal cellular homeostasis and disease states, in particular autoimmune diseases. [3]
For the pilot project, we developed an integrated genomics-based technology platform. The pipeline involves the automated bisulphite treatment of DNA from minute tissue biopsies, gene-specific bisulphite PCR and large-scale sequencing of PCR amplicons. Analysis and quantification of methylation patterns is achieved by mass spectrometric and microarray assays.