A CRISPR Connection between Chromatin Topology and Genetic Disorders

Bing Ren; Jesse R Dixon

doi:10.1016/j.cell.2015.04.047

A CRISPR Connection between Chromatin Topology and Genetic Disorders

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

Authors

Bing Ren¹, Jesse R Dixon²

Affiliations

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.

Publication types

Comment

MeSH terms

Animals
Disease Models, Animal*
Enhancer Elements, Genetic*
Gene Expression Regulation*
Humans

Abstract

Publication types

MeSH terms

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