1. Genetic variation in DREs could be a causative factor in dysregulation of distal target gene expression.
Genetic variation in DREs could be a causative factor in dysregulation of distal target gene expression. (A) Many of the susceptibility loci that are not located in protein coding regions overlap with DREs, such as enhancers and repressors. (B) DREs play a crucial role in regulating gene expression in a cell-specific manner by modulating 3D chromatin interactions and increasing spatial proximity of DREs with TSSs, thereby regulating transcription of genes on a nonlinear DNA scale. (C) Distal transcriptional activity of DREs could be compromised by (D) genetic variation (represented by colocalization with disease-associated SNP).
Maarten M. Brandt et al. JASN 2018;29:
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