Article
Enhancer-adoption as a mechanism of human developmental disease.
Human mutation - 1 Dec 2011
Lettice Laura A, Daniels Sarah, Sweeney Elizabeth, Venkataraman Shanmugasundaram, Devenney Paul S, Gautier Philippe, Morrison Harris, Fantes Judy, Hill Robert E, FitzPatrick David R
Abstract excerpt
Disruption of the long-range cis-regulation of developmental gene expression is increasingly recognized as a cause of human disease. Here, we report a novel type of long-range cis-regulatory mutation, in which ectopic expression of a gene is driven by an enhancer that is not its own. We have termed this gain of regulatory information as "enhancer adoption." We mapped the breakpoints of a de novo 7q inversion in a...
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