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.


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