Genomic views of distant-acting enhancers

Axel Visel, Edward M. Rubin and Len A. Pennacchio
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Axel Visel: MS 84–171, Lawrence Berkeley National Laboratory
Edward M. Rubin: MS 84–171, Lawrence Berkeley National Laboratory
Len A. Pennacchio: MS 84–171, Lawrence Berkeley National Laboratory

Nature, 2009, vol. 461, issue 7261, 199-205

Abstract: Abstract In contrast to protein-coding sequences, the significance of variation in non-coding DNA in human disease has been minimally explored. A great number of recent genome-wide association studies suggest that non-coding variation is a significant risk factor for common disorders, but the mechanisms by which this variation contributes to disease remain largely obscure. Distant-acting transcriptional enhancers — a major category of functional non-coding DNA — are involved in many developmental and disease-relevant processes. Genome-wide approaches to their discovery and functional characterization are now available and provide a growing knowledge base for the systematic exploration of their role in human biology and disease susceptibility.

Date: 2009
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DOI: 10.1038/nature08451

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