Identification and function of enhancers in the human genome

CJ Coppola, R C. Ramaker… - Human molecular …, 2016 - academic.oup.com
The study of gene regulation has rapidly advanced by leveraging next-generation
sequencing to identify and characterize the cis and trans elements that are critical for …

[HTML][HTML] Transcriptional enhancers: functional insights and role in human disease

I Miguel-Escalada, L Pasquali, J Ferrer - Current Opinion in Genetics & …, 2015 - Elsevier
In recent years, studies of cis-regulatory mechanisms have evolved from a predominant
focus on promoter regions to the realization that spatial and temporal gene regulation is …

Characterization of enhancer function from genome-wide analyses

GA Maston, SG Landt, M Snyder… - Annual review of …, 2012 - annualreviews.org
There has been a recent surge in the use of genome-wide methodologies to identify and
annotate the transcriptional regulatory elements in the human genome. Here we review …

Enhancer logic and mechanics in development and disease

R Rickels, A Shilatifard - Trends in cell biology, 2018 - cell.com
Enhancers are distally located genomic cis-regulatory elements that integrate
spatiotemporal cues to coordinate gene expression in a tissue-specific manner during …

Functional genomic approaches to elucidate the role of enhancers during development

GE Ryan, EK Farley - Wiley Interdisciplinary Reviews: Systems …, 2020 - Wiley Online Library
Successful development depends on the precise tissue‐specific regulation of genes by
enhancers, genetic elements that act as switches to control when and where genes are …

Promoter or enhancer, what's the difference? Deconstruction of established distinctions and presentation of a unifying model

R Andersson - Bioessays, 2015 - Wiley Online Library
Gene transcription is strictly controlled by the interplay of regulatory events at gene
promoters and gene‐distal regulatory elements called enhancers. Despite extensive studies …

[HTML][HTML] Genome-wide maps of transcription regulatory elements and transcription enhancers in development and disease

P Agrawal, KE Heimbruch, S Rao - Comprehensive Physiology, 2018 - ncbi.nlm.nih.gov
Gene expression is regulated by numerous elements including enhancers, insulators,
transcription factors, and architectural proteins. Regions of DNA distal to the transcriptional …

HACER: an atlas of human active enhancers to interpret regulatory variants

J Wang, X Dai, LD Berry, JD Cogan, Q Liu… - Nucleic acids …, 2019 - academic.oup.com
Recent studies have shown that disease-susceptibility variants frequently lie in cell-type-
specific enhancer elements. To identify, interpret, and prioritize such risk variants, we must …

[PDF][PDF] DiseaseEnhancer: a resource of human disease-associated enhancer catalog

G Zhang, J Shi, S Zhu, Y Lan, L Xu, H Yuan… - Nucleic acids …, 2018 - academic.oup.com
Large-scale sequencing studies discovered substantial genetic variants occurring in
enhancers which regulate genes via long range chromatin interactions. Importantly, such …

Enhanced identification of transcriptional enhancers provides mechanistic insights into diseases

Y Murakawa, M Yoshihara, H Kawaji, M Nishikawa… - Trends in Genetics, 2016 - cell.com
Enhancers are distal cis-regulatory DNA elements that increase the expression of target
genes. Various experimental and computational approaches including chromatin signature …