Epigenomics AG and Wellcome Trust Sanger Institute release epigenetic data on the first 3 chromosomes

28-Jun-2006

Epigenomics AG and the Wellcome Trust Sanger Institute released comprehensive epigenetic data on the human chromosomes 6, 20, and 22. The data are the first results of the Human Epigenome Project (HEP) started in 2003 to identify and map sites in the human genome that are chemically modified by methylation.

DNA methylation is a process by which cells modulate the activity of their genes. The patterns of the methylation differ from tissue to tissue reflecting the different tasks of tissues and organs, which require the activity of genes necessary for the specialized function. In addition, DNA methylation patterns change during development, upon environmental influences and in many diseases, e.g. in cancer, age-related diseases etc.

As methylation is the only flexible genomic parameter that can change gene function under exogenous influence, the mapping of these DNA methylation patterns is an important step towards an understanding of how genes are regulated in the context of development, environment and diseases. HEP therefore also is a very important complement to the Human Genome Project, as HEP data reflect the functional dynamic of the genome while the Human Genome Project data provide a blueprint of the fixed state of the genome.

The data sets released comprise the methylation patterns of three human chromosomes (number 6, 20, and 22) and have been derived from 43 samples comprising 12 different tissues and cell types. So far, HEP has looked at more than 2,500 different genomic loci and found that 21% of all loci, or 17% of all genes on these chromosomes are differentially methylated in at least one of the examined tissue. The results will be published in detail over the coming months.

"This is the first study report ever establishing the DNA methylation blueprint for whole chromosomes," said Alexander Olek, CEO of Epigenomics AG, "and we believe the results justify the effort. As an example, we found that between the specimens examined, a surprisingly high proportion of the genomic sites are differentially methylated. So science may have underestimated the role of DNA methylation in gene regulation and tissue differentiation. The data constitute an important reference tool for further epigenetic studies and will help us to identify new marker candidates for a variety of medical conditions."

Results were patented. Epigenomics AG will use the data for the development of diagnostic products. HEP was launched in October 2003 as a public/private collaboration by Epigenomics AG and the Wellcome Trust Sanger Institute and aims to identify and catalogue Methylation Variable Positions (MVPs) in the human genome. HEP has been jointly funded by the partners. Epigenomics is conducting methylation specific steps in preanalytics as well as the amplification of the probes, while Sanger is conducting the sequencing.

https://www.bionity.com/en/news/55878/epigenomics-ag-and-wellcome-trust-sanger-institute-release-epigenetic-data-on-the-first-3-chromosomes.html