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Enhancer Logic and Mechanics in Development and Disease
Ryan Rickels1, Ali Shilatifard1
1Simpson Querrey Center for Epigenetics, and the Department of Biochemistry and Molecular Genetics, Feinberg School of Medicine, Northwestern University, 320 East Superior Street, Chicago, IL 60611, USA.
Trends in Cell Biology
|May 16, 2018
Summary
Genomic enhancers regulate gene expression during development. Advances in technology allow us to study these cis-regulatory elements and understand their role in diseases like enhanceropathies.
Area of Science:
- Genomics
- Developmental Biology
- Molecular Biology
Background:
- Enhancers are crucial cis-regulatory elements controlling tissue-specific gene expression during development.
- Enhancer function relies on transcription factors, cofactors, chromatin structure, and topological interactions.
- Most disease-associated genetic variations reside in the non-coding genome (cis-regulome), highlighting its importance for human health.
Purpose of the Study:
- To review recent technological advancements in identifying and studying enhancers.
- To discuss emerging trends and open questions in enhancer biology.
- To explore the link between enhancer dysfunction and enhanceropathies.
Main Methods:
- Review of recent literature on DNA sequencing and genome-editing technologies.
- Analysis of genome-wide studies identifying cis-regulatory elements.
- Discussion of in vivo methodologies for enhancer investigation.
Main Results:
- New technologies have significantly enhanced the ability to identify and characterize enhancers.
- An intricate interconnectivity within cis-regulatory networks has been revealed.
- Perturbations in enhancer activity are linked to various enhanceropathies.
Conclusions:
- Understanding enhancer biology is critical for deciphering gene regulation and disease mechanisms.
- Continued research into cis-regulatory networks and enhancer function is essential.
- Technological progress is rapidly advancing the field of enhancer biology and its clinical relevance.
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