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The wider view from a detailed focus

A major study of the organization and regulation of the human genome published today changes our concept of how our genome works. The integrated study is an exhaustive analysis of 1% of the genome that, for the first time, gives an extensive view of genetic activity alongside the cellular machinery that allows DNA to be read and replicated.

The lead report from the ENCyclopedia Of DNA Elements (ENCODE) Consortium, published in Nature, together with 28 companion papers published in Genome Research, defined in detail which regions of the genome are actively copied in the cell, revealed the location and studied evolution of elements that control gene activity, and defined the relationship between DNA-associated proteins and gene activity and DNA replication.

The complex tapestry of interwoven elements revealed today suggests that "our perspective of transcription and genes may have to evolve," the researchers state, noting that their research "poses some interesting mechanistic questions" that have yet to be answered.

Our understanding of genome biology from the Human Genome Project gave us an overview of a 3-billion-base genome, peppered with some 22,000 discrete genes and the sequences that regulate their activity. These were estimated to occupy perhaps 3-5% of the genome, though this number is expected to be an underestimate.

"The new view transforms our view of the genomic fabric," explained Dr Tim Hubbard, from the Wellcome Trust Sanger Institute, "The majority of the genome is copied, or transcribed, into RNA, which is the active molecule in our cells, relaying information from the archival DNA copy to the cellular machinery. This is a remarkable finding, since most prior research suggested only a fraction of the genome was transcribed."

"But it is our new understanding of regulation of genes that stands out. The
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Contact: Don Powell
don@sanger.ac.uk
44-012-234-94956
Wellcome Trust Sanger Institute
13-Jun-2007


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