Characterizing cis-regulatory elements using single-cell epigenomics

S Preissl, KJ Gaulton, B Ren - Nature Reviews Genetics, 2023 - nature.com
Cell type-specific gene expression patterns and dynamics during development or in disease
are controlled by cis-regulatory elements (CREs), such as promoters and enhancers …

Genome folding through loop extrusion by SMC complexes

IF Davidson, JM Peters - Nature reviews Molecular cell biology, 2021 - nature.com
Genomic DNA is folded into loops and topologically associating domains (TADs), which
serve important structural and regulatory roles. It has been proposed that these genomic …

Expanded encyclopaedias of DNA elements in the human and mouse genomes

JE Moore, MJ Purcaro, HE Pratt, CB Epstein… - Nature, 2020 - nature.com
The human and mouse genomes contain instructions that specify RNAs and proteins and
govern the timing, magnitude, and cellular context of their production. To better delineate …

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

PF Sullivan, JRS Meadows, S Gazal, BDN Phan, X Li… - Science, 2023 - science.org
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

Enhancers in disease: molecular basis and emerging treatment strategies

A Claringbould, JB Zaugg - Trends in molecular medicine, 2021 - cell.com
Enhancers are genomic sequences that play a key role in regulating tissue-specific gene
expression levels. An increasing number of diseases are linked to impaired enhancer …

Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - BioRxiv, 2022 - biorxiv.org
Most signals in genome-wide association studies (GWAS) of complex traits point to
noncoding genetic variants with putative gene regulatory effects. However, currently …

MyoD is a 3D genome structure organizer for muscle cell identity

R Wang, F Chen, Q Chen, X Wan, M Shi… - Nature …, 2022 - nature.com
The genome exists as an organized, three-dimensional (3D) dynamic architecture, and each
cell type has a unique 3D genome organization that determines its cell identity. An …

Perspectives on ENCODE

MP Snyder, TR Gingeras, JE Moore, Z Weng… - Nature, 2020 - nature.com
Abstract The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the
long-term goal of developing a comprehensive map of functional elements in the human …

Transcription-mediated supercoiling regulates genome folding and loop formation

MV Neguembor, L Martin, Á Castells-García… - Molecular cell, 2021 - cell.com
The chromatin fiber folds into loops, but the mechanisms controlling loop extrusion are still
poorly understood. Using super-resolution microscopy, we visualize that loops in intact …

Hi-TrAC reveals division of labor of transcription factors in organizing chromatin loops

S Liu, Y Cao, K Cui, Q Tang, K Zhao - Nature communications, 2022 - nature.com
The three-dimensional genomic structure plays a critical role in gene expression, cellular
differentiation, and pathological conditions. It is pivotal to elucidate fine-scale chromatin …