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Cell. 2015 May 21;161(5):955-957. doi: 10.1016/j.cell.2015.04.047.

A CRISPR Connection between Chromatin Topology and Genetic Disorders.

Author information

1
Ludwig Institute for Cancer Research, University of California, San Diego, School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093-0653. Electronic address: biren@ucsd.edu.
2
Ludwig Institute for Cancer Research, University of California, San Diego, School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093-0653.

Abstract

Structural variations are common in the human genome, but their contributions to human diseases have been hard to define. Lupiáñez et al. demonstrate that some structural variants can interrupt chromatin topology, resulting in ectopic enhancer-promoter interactions, altered spatiotemporal gene expression patterns, and developmental disorders.

PMID:
26000472
PMCID:
PMC4478077
DOI:
10.1016/j.cell.2015.04.047
[Indexed for MEDLINE]
Free PMC Article

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