Enhancer Redundancy in Development and Disease

Overview

Journal Nat Rev Genet

Specialty Genetics

Date 2021 Jan 14

PMID 33442000

Citations 100

Authors

Evgeny Z Kvon

Rachel Waymack

Mario Gad

Zeba Wunderlich

Affiliations

Soon will be listed here.

Abstract

Shadow enhancers are seemingly redundant transcriptional cis-regulatory elements that regulate the same gene and drive overlapping expression patterns. Recent studies have shown that shadow enhancers are remarkably abundant and control most developmental gene expression in both invertebrates and vertebrates, including mammals. Shadow enhancers might provide an important mechanism for buffering gene expression against mutations in non-coding regulatory regions of genes implicated in human disease. Technological advances in genome editing and live imaging have shed light on how shadow enhancers establish precise gene expression patterns and confer phenotypic robustness. Shadow enhancers can interact in complex ways and may also help to drive the formation of transcriptional hubs within the nucleus. Despite their apparent redundancy, the prevalence and evolutionary conservation of shadow enhancers underscore their key role in emerging metazoan gene regulatory networks.

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