A CRISPR Connection between Chromatin Topology and Genetic Disorders

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A CRISPR Connection between Chromatin Topology and Genetic Disorders Bing Ren, Jesse R. Dixon Cell Volume 161, Issue 5, Pages 955-957 (May 2015) DOI: 10.1016/j.cell.2015.04.047 Copyright © 2015 Elsevier Inc. Terms and Conditions

Figure 1 Structural Variation and Pathological Rewiring of Genetic Regulatory Interactions A genetic locus that includes genes and enhancers relevant to mammalian limb formation (top) has undergone deletions and inversions in humans, causing altered promoter-enhancer interactions (middle) and three distinct malformation syndromes (bottom). Recapitulating these structural variations in mice indicates that disruption of the TAD boundary domain is a key component of rewired circuitry and a pathological phenotype. Cell 2015 161, 955-957DOI: (10.1016/j.cell.2015.04.047) Copyright © 2015 Elsevier Inc. Terms and Conditions