Enhancer redundancy in development and disease

EZ Kvon, R Waymack, M Gad, Z Wunderlich - Nature Reviews Genetics, 2021 - nature.com
Shadow enhancers are seemingly redundant transcriptional cis-regulatory elements that
regulate the same gene and drive overlap** expression patterns. Recent studies have …

What are super-enhancers?

S Pott, JD Lieb - Nature genetics, 2015 - nature.com
The term'super-enhancer'has been used to describe groups of putative enhancers in close
genomic proximity with unusually high levels of Mediator binding, as measured by chromatin …

[HTML][HTML] Super-enhancers include classical enhancers and facilitators to fully activate gene expression

JW Blayney, H Francis, A Rampasekova, B Camellato… - Cell, 2023 - cell.com
Super-enhancers are compound regulatory elements that control expression of key cell
identity genes. They recruit high levels of tissue-specific transcription factors and co …

Gene therapy in patients with transfusion-dependent β-thalassemia

AA Thompson, MC Walters, J Kwiatkowski… - … England Journal of …, 2018 - Mass Medical Soc
Background Donor availability and transplantation-related risks limit the broad use of
allogeneic hematopoietic-cell transplantation in patients with transfusion-dependent β …

H3K27me3-rich genomic regions can function as silencers to repress gene expression via chromatin interactions

Y Cai, Y Zhang, YP Loh, JQ Tng, MC Lim, Z Cao… - Nature …, 2021 - nature.com
The mechanisms underlying gene repression and silencers are poorly understood. Here we
investigate the hypothesis that H3K27me3-rich regions of the genome, defined from clusters …

[HTML][HTML] Super-enhancers in the control of cell identity and disease

D Hnisz, BJ Abraham, TI Lee, A Lau, V Saint-André… - Cell, 2013 - cell.com
Super-enhancers are large clusters of transcriptional enhancers that drive expression of
genes that define cell identity. Improved understanding of the roles that super-enhancers …

[HTML][HTML] Master transcription factors and mediator establish super-enhancers at key cell identity genes

WA Whyte, DA Orlando, D Hnisz, BJ Abraham, CY Lin… - Cell, 2013 - cell.com
Summary Master transcription factors Oct4, Sox2, and Nanog bind enhancer elements and
recruit Mediator to activate much of the gene expression program of pluripotent embryonic …

Three-dimensional genome architecture: players and mechanisms

A Pombo, N Dillon - Nature reviews Molecular cell biology, 2015 - nature.com
The different cell types of an organism share the same DNA, but during cell differentiation
their genomes undergo diverse structural and organizational changes that affect gene …

Building regulatory landscapes reveals that an enhancer can recruit cohesin to create contact domains, engage CTCF sites and activate distant genes

NJ Rinzema, K Sofiadis, SJD Tjalsma… - Nature Structural & …, 2022 - nature.com
Developmental gene expression is often controlled by distal regulatory DNA elements called
enhancers. Distant enhancer action is restricted to structural chromosomal domains that are …

The accessible chromatin landscape of the human genome

RE Thurman, E Rynes, R Humbert, J Vierstra… - Nature, 2012 - nature.com
DNase I hypersensitive sites (DHSs) are markers of regulatory DNA and have underpinned
the discovery of all classes of cis-regulatory elements including enhancers, promoters …