A CRISPR Connection between Chromatin Topology and Genetic Disorders.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 26000472.
- Also identified by DOI 10.1016/j.cell.2015.04.047 and PMC identifier 4478077.
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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.
Medical subject headings
- Disease Models, Animal
- Enhancer Elements, Genetic
- Gene Expression Regulation