Cis-regulatory sequences in plants: their importance, discovery, and future challenges

RJ Schmitz, E Grotewold, M Stam - The plant cell, 2022 - academic.oup.com
The identification and characterization of cis-regulatory DNA sequences and how they
function to coordinate responses to developmental and environmental cues is of paramount …

Understanding 3D genome organization by multidisciplinary methods

I Jerkovic, G Cavalli - Nature Reviews Molecular Cell Biology, 2021 - nature.com
Understanding how chromatin is folded in the nucleus is fundamental to understanding its
function. Although 3D genome organization has been historically difficult to study owing to a …

Long-range enhancer–promoter contacts in gene expression control

S Schoenfelder, P Fraser - Nature Reviews Genetics, 2019 - nature.com
Spatiotemporal gene expression programmes are orchestrated by transcriptional
enhancers, which are key regulatory DNA elements that engage in physical contacts with …

Methods for mapping 3D chromosome architecture

R Kempfer, A Pombo - Nature Reviews Genetics, 2020 - nature.com
Determining how chromosomes are positioned and folded within the nucleus is critical to
understanding the role of chromatin topology in gene regulation. Several methods are …

The relationship between genome structure and function

AM Oudelaar, DR Higgs - Nature Reviews Genetics, 2021 - nature.com
Precise patterns of gene expression in metazoans are controlled by three classes of
regulatory elements: promoters, enhancers and boundary elements. During differentiation …

The role of 3D genome organization in development and cell differentiation

H Zheng, W Xie - Nature reviews Molecular cell biology, 2019 - nature.com
In eukaryotes, the genome does not exist as a linear molecule but instead is hierarchically
packaged inside the nucleus. This complex genome organization includes multiscale …

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 overlapping expression patterns. Recent studies have …

The post-GWAS era: from association to function

MD Gallagher, AS Chen-Plotkin - The American Journal of Human …, 2018 - cell.com
During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …

Defining genome architecture at base-pair resolution

P Hua, M Badat, LLP Hanssen, LD Hentges, N Crump… - Nature, 2021 - nature.com
In higher eukaryotes, many genes are regulated by enhancers that are 104–106 base pairs
(bp) away from the promoter. Enhancers contain transcription-factor-binding sites (which are …

The allelic landscape of human blood cell trait variation and links to common complex disease

WJ Astle, H Elding, T Jiang, D Allen, D Ruklisa… - Cell, 2016 - cell.com
Many common variants have been associated with hematological traits, but identification of
causal genes and pathways has proven challenging. We performed a genome-wide …