Structural variation in the 3D genome

M Spielmann, DG Lupiáñez, S Mundlos - Nature Reviews Genetics, 2018 - nature.com
Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …

Two major mechanisms of chromosome organization

LA Mirny, M Imakaev, N Abdennur - Current opinion in cell biology, 2019 - Elsevier
The spatial organization of chromosomes has long been connected to their polymeric nature
and is believed to be important for their biological functions, including the control of …

Enhancer–promoter contact formation requires RNAPII and antagonizes loop extrusion

S Zhang, N Übelmesser, M Barbieri, A Papantonis - Nature genetics, 2023 - nature.com
Homotypic chromatin interactions and loop extrusion are thought to be the two main drivers
of mammalian chromosome folding. Here we tested the role of RNA polymerase II (RNAPII) …

Promoter-proximal CTCF binding promotes distal enhancer-dependent gene activation

N Kubo, H Ishii, X Xiong, S Bianco… - Nature structural & …, 2021 - nature.com
The CCCTC-binding factor (CTCF) works together with the cohesin complex to drive the
formation of chromatin loops and topologically associating domains, but its role in gene …

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 …

Complex multi-enhancer contacts captured by genome architecture mapping

RA Beagrie, A Scialdone, M Schueler, DCA Kraemer… - Nature, 2017 - nature.com
The organization of the genome in the nucleus and the interactions of genes with their
regulatory elements are key features of transcriptional control and their disruption can cause …

RNA-mediated symmetry breaking enables singular olfactory receptor choice

AD Pourmorady, EV Bashkirova, AM Chiariello… - Nature, 2024 - nature.com
Olfactory receptor (OR) choice provides an extreme example of allelic competition for
transcriptional dominance, where every olfactory neuron stably transcribes one of …

[HTML][HTML] Cell-type specialization is encoded by specific chromatin topologies

W Winick-Ng, A Kukalev, I Harabula, L Zea-Redondo… - Nature, 2021 - nature.com
Abstract The three-dimensional (3D) structure of chromatin is intrinsically associated with
gene regulation and cell function,–. Methods based on chromatin conformation capture have …

Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains

AM Oudelaar, JOJ Davies, LLP Hanssen, JM Telenius… - Nature …, 2018 - nature.com
The promoters of mammalian genes are commonly regulated by multiple distal enhancers,
which physically interact within discrete chromatin domains. How such domains form and …

Loop-extrusion and polymer phase-separation can co-exist at the single-molecule level to shape chromatin folding

M Conte, E Irani, AM Chiariello, A Abraham… - Nature …, 2022 - nature.com
Loop-extrusion and phase-separation have been proposed as mechanisms that shape
chromosome spatial organization. It is unclear, however, how they perform relative to each …