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New findings challenge established views about human genome

The ENCyclopedia Of DNA Elements (ENCODE), an international research consortium organised by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), today published the results of its exhaustive, four-year effort to build a parts list of all biologically functional elements in 1 percent of the human genome in the journal Nature. The analysis was led by the European Molecular Biology Laboratorys European Bioinformatics Institute (EMBL-EBI), drawing on expertise from 35 groups from 80 organizations around the world. The project served as a pilot to test the feasibility of a full-scale initiative to produce a comprehensive catalog of all components of the human genome crucial for biological function.

The findings promise to reshape our understanding of how the human genome functions. They challenge the traditional view of our genetic blueprint as a tidy collection of independent genes, pointing instead to a network in which genes, regulatory elements and other types of DNA sequences interact in complex, overlapping ways.

By integrating 200 datasets generated by various high-throughput methods we now have a very good idea what 1 percent of our DNA might be doing. Our results reveal important principles about the organization of functional elements in the human genome, providing new perspectives on everything from DNA transcription to mammalian evolution. In particular, we gained significant insight into DNA sequences that do not encode proteins, which we knew very little about before, said Ewan Birney, Ph.D., head of genome annotation at EMBL-EBI, who led ENCODEs massive data integration and analysis effort.

The ENCODE consortiums major findings include the discovery that the majority of human DNA is transcribed into RNA and that these transcripts extensively overlap one another. This broad pattern of transcription challenges the long-standing view that the human genome consists of a small
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Contact: Anna-Lynn Wegener
wegener@embl.de
49-622-138-7452
European Molecular Biology Laboratory
13-Jun-2007


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