Enhancer and promoter atlases published in Nature!

Press release released today:

In 2003, the human DNA sequence was determined in thehuman genome project. Now, scientists in the FANTOM project determined exactly where in the body each gene encoded in DNA is active. This is important, because it is the activity of the genes that make the cells so different – brain cells use a specific set of genes that are involved in brainfunctions, but not genes that are involved in liver function,etc.

“In the FANTOM consortium, we have for the first time systematically investigated exactly what genes that are used in virtually all cell types across the human body – so, we have painted an activity layer on the human DNA, much like filling the contours of a map with mountains, rivers and cities

said Professor Albin Sandelin at University of Copenhagen, who led the Danish team in FANTOM.The technology also made it possible to find the regulatory switches that are responsible foractivating the genes in the right cells, called “enhancers”.

“We have mapped the activities of these 44.000 enhancers across the human body and how theirusage are linked to the FANTOM5 gene usage atlas. Until now, the locations and activity of these regions were limited to a handful of easily accessible cell types.

said Dr. Robin Andersson at University of Copenhagen, responsible for much of the analysis of regulatory switches. The team also found that many of the mutations linked to disease are located within these regulatory switches, thus linking the mutation to an effect. Because the experimental method can be used on small samples, this finding opens up the door for analyzing tissue samples from people suffering from disease and find out what is wrong on a molecular level.

These studies were published in two landmark papers in the prestigious Nature journal, together with many follow-up papers published in Nature Biotechnology, Genome Research, Blood,Molecular Biology and Evolution, Proceedings of the National Academy of Sciences, Nucleic Acids Research, Molecular genetics and metabolism, BMC Genomics and PLoS ONE. For a more detial, see the main FANTOM5 website

The work was supported by the Lundbeck Foundation and the Novo Nordisk Foundation.

A promoter level mammalian expression atlas. Forrest A et al, Nature, http://dx.doi.org/10.1038/nature13182

An atlas of active enhancers across human cell types and tissues. Andersson R. et al, Nature, http://dx.doi.org/10.1038/nature12787


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