A GPS for Navigating DNA

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Science  07 Sep 2012:
Vol. 337, Issue 6099, pp. 1179-1180
DOI: 10.1126/science.1227739

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A complete characterization of genetic and epigenetic variations in germ-line and somatic DNA can provide a blueprint for understanding causal relationships between genes and phenotypes, from hydrogen production in bacteria to glucose homeostasis in humans. Detecting small nucleotide differences, structural variations (such as duplications), and a range of chemical modifications to nucleic acids have pointed to variations that potentially underlie the risk of disease, disease severity, and response to treatments for specific diseases. However, these changes alone are not sufficient to explain how a given variant or constellation of variants increases the risk of disease. What is needed is an integration of many different kinds of genetic and molecular data to elucidate regulatory networks underlying disease (1). On page 1190 of this issue, Maurano et al. (2) contribute such data by characterizing how DNA variants associated with common disease traits are concentrated in noncoding regulatory regions of the human genomes that are marked by hypersensitivity to the enzyme deoxyribonuclease I (DNase I). When appropriately integrated with other molecular, cellular, and physiological data, such information may improve the way we understand normal conditions and diagnose and treat disease.