The scales, mechanisms, and dynamics of the genome architecture

L Lizana, YB Schwartz - Science Advances, 2024 - science.org
Even when split into several chromosomes, DNA molecules that make up our genome are
too long to fit into the cell nuclei unless massively folded. Such folding must accommodate …

[HTML][HTML] Multi-feature clustering of CTCF binding creates robustness for loop extrusion blocking and Topologically Associating Domain boundaries

LH Chang, S Ghosh, A Papale, JM Luppino… - Nature …, 2023 - nature.com
Abstract Topologically Associating Domains (TADs) separate vertebrate genomes into
insulated regulatory neighborhoods that focus genome-associated processes. TADs are …

[HTML][HTML] Single-cell, whole-embryo phenotyping of mammalian developmental disorders

X Huang, J Henck, C Qiu, VKA Sreenivasan… - Nature, 2023 - nature.com
Mouse models are a critical tool for studying human diseases, particularly developmental
disorders. However, conventional approaches for phenotyping may fail to detect subtle …

Emerging questions on the mechanisms and dynamics of 3D genome evolution in spiralians

TF Rogers, O Simakov - Briefings in Functional Genomics, 2023 - academic.oup.com
Abstract Information on how 3D genome topology emerged in animal evolution, how stable it
is during development, its role in the evolution of phenotypic novelties and how exactly it …

[HTML][HTML] TAD evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function

M Okhovat, J VanCampen, KA Nevonen… - Nature …, 2023 - nature.com
Topological associating domains (TADs) are self-interacting genomic units crucial for
shaping gene regulation patterns. Despite their importance, the extent of their evolutionary …

Chromosome evolution in Lepidoptera

CJ Wright, L Stevens, A Mackintosh, M Lawniczak… - bioRxiv, 2023 - biorxiv.org
Chromosomes are a central unit of genome organisation. One tenth of all described species
on Earth are Lepidoptera, butterflies and moths, and these generally possess 31 holocentric …

[HTML][HTML] TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

M Baudic, H Murata, FM Bosada, US Melo… - Nature …, 2024 - nature.com
While 3D chromatin organization in topologically associating domains (TADs) and loops
mediating regulatory element-promoter interactions is crucial for tissue-specific gene …

[HTML][HTML] Super-enhancers and their parts: from prediction efforts to pathognomonic status

AV Vasileva, MG Gladkova, GA Ashniev… - International Journal of …, 2024 - mdpi.com
Super-enhancers (SEs) are regions of the genome that play a crucial regulatory role in gene
expression by promoting large-scale transcriptional responses in various cell types and …

[HTML][HTML] TAD border deletion at the Kit locus causes tissue-specific ectopic activation of a neighboring gene

E Kabirova, A Ryzhkova, V Lukyanchikova… - Nature …, 2024 - nature.com
Topologically associated domains (TADs) restrict promoter-enhancer interactions, thereby
maintaining the spatiotemporal pattern of gene activity. However, rearrangements of the …

[HTML][HTML] Epigenetic modulation through BET bromodomain inhibitors as a novel therapeutic strategy for progranulin-deficient frontotemporal dementia

ZC Rosenthal, DM Fass, NC Payne, A She, D Patnaik… - Scientific reports, 2024 - nature.com
Frontotemporal dementia (FTD) is a debilitating neurodegenerative disorder with currently
no disease-modifying treatment options available. Mutations in GRN are one of the most …