Abstract
Enhancers are distally located genomic cis-regulatory elements that integrate spatiotemporal cues to coordinate gene expression in a tissue-specific manner during metazoan development. Enhancer function depends on a combination of bound transcription factors and cofactors that regulate local chromatin structure, as well as on the topological interactions that are necessary for their activity. Numerous genome-wide studies concur that the vast majority of disease-associated variations occur within non-coding genomic sequences, in other words the ‘cis-regulome’ and this underscores their relevance for human health. Advances in DNA sequencing and genome-editing technologies have dramatically expanded our ability to identify enhancers and investigate their properties in vivo, revealing an extraordinary level of interconnectivity underlying cis-regulatory networks. We discuss here these recently developed methodologies, as well as emerging trends and remaining questions in the field of enhancer biology, and how perturbation of enhancer activities/functions results in enhanceropathies.
Original language | English (US) |
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Pages (from-to) | 608-630 |
Number of pages | 23 |
Journal | Trends in Cell Biology |
Volume | 28 |
Issue number | 8 |
DOIs | |
State | Published - Aug 2018 |
Keywords
- chromatin structure
- enhancer identification
- enhanceropathies
- enhancers
- gene expression
- genome editing
ASJC Scopus subject areas
- Cell Biology