Understanding enhancer function to understand human disease
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In multicellular organisms, spatial and temporal regulation of gene expression is crucial for development, cellular differentiation, and homeostasis. Cell-type-specific regulation of gene expression is achieved through the interaction between regulatory elements that are either proximal (promoters) or distal (enhancers, silencers, insulators) to gene transcription start sites (TSSs). Enhancers, which primarily function in a cell type-specific manner, are short (100-1000 bp) DNA
