Article

Structural elements facilitate extreme long-range gene regulation at a human disease locus

2022-10-21

Abstract excerpt

<h4>Summary</h4> Enhancer clusters overlapping disease-associated mutations in Pierre Robin sequence (PRS) patients regulate SOX9 expression at genomic distances over 1.25 megabases. We applied optical reconstruction of chromatin architecture (ORCA) imaging to trace 3D locus topology during PRS-enhancer activation. While we observed pronounced changes in locus topology between cell-types, analysis of single chro...

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Literature Corpus work: 89dc7ab0-cbca-5ed1-b482-b7a5c3d7229e
DOI: 10.1101/2022.10.20.513057

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