Human Epigenome Pilot Project
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), we 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.
We 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.
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.