New projects probe the human genome

16 May 2005

The National Human Genome Research Institute (NHGRI) in the US has announced a novel initiative to identify the regions of the human genome essential for biological function (see press release). The ENCODE project (ENCyclopedia Of DNA Elements) aims to bring together international researchers from government, industry and academia to study functional elements within the human genome. An initial three-year pilot study will evaluate high-throughput methods to locate and analyse all the functional elements within selected regions of DNA, amounting to approximately 1% of the genome. The long-term aim is to extend this effort to cover the entire genome, establishing a database of the information generated, which is to be made publicly available. The project also intends to compare genomic sequences from humans and a range of animals in order to identify evolutionarily conserved regions, which are more likely to contain sequences with important biological functions.

In the same week, German-based company Epigenomics AG and the Wellcome Trust Sanger Institute (Hinxton, UK) have announced an agreement to fund and initiate the Human Epigenome Project (HEP), following a pilot study funded by the EU; see press release. The aim of the five-year project is to map DNA methylation sites in the human genome; methylation is a crucial mechanism for regulating gene expression. DNA methylation is essential for the normal development and function of our bodies, and altered patterns of methylation are thought to be important in cancer and other diseases, and in the ageing process. The HEP is intended to increase current understanding of gene regulation in health and disease. The collaboration combines high-throughput methylation analysis by Epigenomics with sequencing by the Sanger Institute; data generated will be combined with the human genome sequence and publicly released.

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