Mechanisms of enhancer action: the known and the unknown

A Panigrahi, BW O'Malley - Genome biology, 2021 - Springer
Differential gene expression mechanisms ensure cellular differentiation and plasticity to
shape ontogenetic and phylogenetic diversity of cell types. A key regulator of differential …

Eukaryotic core promoters and the functional basis of transcription initiation

V Haberle, A Stark - Nature reviews Molecular cell biology, 2018 - nature.com
Abstract RNA polymerase II (Pol II) core promoters are specialized DNA sequences at
transcription start sites of protein-coding and non-coding genes that support the assembly of …

Genome-wide enhancer maps link risk variants to disease genes

J Nasser, DT Bergman, CP Fulco, P Guckelberger… - Nature, 2021 - nature.com
Genome-wide association studies (GWAS) have identified thousands of noncoding loci that
are associated with human diseases and complex traits, each of which could reveal insights …

Activity-by-contact model of enhancer–promoter regulation from thousands of CRISPR perturbations

CP Fulco, J Nasser, TR Jones, G Munson… - Nature …, 2019 - nature.com
Enhancer elements in the human genome control how genes are expressed in specific cell
types and harbor thousands of genetic variants that influence risk for common diseases …

Compatibility rules of human enhancer and promoter sequences

DT Bergman, TR Jones, V Liu, J Ray, E Jagoda, L Siraj… - Nature, 2022 - nature.com
Gene regulation in the human genome is controlled by distal enhancers that activate specific
nearby promoters. A proposed model for this specificity is that promoters have sequence …

Targeted degradation of CTCF decouples local insulation of chromosome domains from genomic compartmentalization

EP Nora, A Goloborodko, AL Valton, JH Gibcus… - Cell, 2017 - cell.com
The molecular mechanisms underlying folding of mammalian chromosomes remain poorly
understood. The transcription factor CTCF is a candidate regulator of chromosomal …

Identification of non-coding silencer elements and their regulation of gene expression

B Pang, JH van Weerd, FL Hamoen… - … Reviews Molecular Cell …, 2023 - nature.com
Cell type-and differentiation-specific gene expression is precisely controlled by genomic non-
coding regulatory elements (NCREs), which include promoters, enhancers, silencers and …

Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements

MR Mumbach, AT Satpathy, EA Boyle, C Dai… - Nature …, 2017 - nature.com
The challenge of linking intergenic mutations to target genes has limited molecular
understanding of human diseases. Here we show that H3K27ac HiChIP generates high …

Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

EM Weeks, JC Ulirsch, NY Cheng, BL Trippe, RS Fine… - Nature …, 2023 - nature.com
Genome-wide association studies (GWASs) are a valuable tool for understanding the
biology of complex human traits and diseases, but associated variants rarely point directly to …

Systematic mapping of functional enhancer–promoter connections with CRISPR interference

CP Fulco, M Munschauer, R Anyoha, G Munson… - Science, 2016 - science.org
Gene expression in mammals is regulated by noncoding elements that can affect physiology
and disease, yet the functions and target genes of most noncoding elements remain …