Article

Enhancer Poising Enables Pathogenic Gene Activation by Noncoding Variants

2025-06-21

Abstract excerpt

Single nucleotide variants within enhancers—non-coding DNA elements that regulate transcription—often lead to aberrant gene activation and contribute to a wide range of genetic disorders (Claussnitzer et al. 2015; Doan et al. 2016; Turner et al. 2017; Yanchus et al. 2022; Lettice et al. 2008). The mechanism by which ectopic gene activation occurs through these gain-of-function enhancer mutations remains poorly und...

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Literature Corpus work: a58b039c-04d3-5dc2-9909-ebc67612698c
DOI: 10.1101/2025.06.20.660819

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