Topologically associating domains (TADs) are sub-Megabase regions in vertebrate genomes with enriched intradomain interactions that restrict enhancer-promoter contacts across their boundaries. However, the mechanisms that separate TADs remain incompletely understood. Most boundaries between TADs contain CTCF binding sites (CBSs), which individually contribute to the blocking of Cohesin-mediated loop extrusion. Using genome-wide classification, here we show that the width of TAD boundaries forms a continuum from narrow to highly extended and correlates with CBSs distribution, chromatin features, and gene regulatory elements. To investigate how these boundary widths emerge, we modified the random crosslinker polymer model to incorporate specific boundary configurations, enabling us to evaluate the differential impact of boundary composition on TAD insulation. Our analysis, using three generic boundary categories, identifies differential influence on TAD insulation, with varying local and distal effects on neighboring domains. Notably, we find that increasing boundary width reduces long-range inter-TAD contacts, as confirmed by Hi-C data. While blocking loop extrusion at boundaries indirectly promotes spurious intermingling of neighboring TADs, extended boundaries counteract this effect, emphasizing their role in establishing genome organization. In conclusion, TAD boundary width not only enhances the efficiency of loop extrusion blocking but may also modulate enhancer-promoter contacts over long distances across TAD boundaries, providing a further mechanism for transcriptional regulation.
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http://dx.doi.org/10.1073/pnas.2413112122 | DOI Listing |
Proc Natl Acad Sci U S A
March 2025
Department of Biology, Computational Biology and Applied Mathematics, Ecole Normale Supérieure, Institute of Biology at Ecole normale Superieure, Université Paris Sciences et Lettres, Paris 75005, France.
Topologically associating domains (TADs) are sub-Megabase regions in vertebrate genomes with enriched intradomain interactions that restrict enhancer-promoter contacts across their boundaries. However, the mechanisms that separate TADs remain incompletely understood. Most boundaries between TADs contain CTCF binding sites (CBSs), which individually contribute to the blocking of Cohesin-mediated loop extrusion.
View Article and Find Full Text PDFLoop-extrusion machinery, comprising the cohesin complex and CCCTC-binding factor CTCF, organizes the interphase chromosomes into topologically associating domains (TADs) and loops, but acute depletion of components of this machinery results in variable transcriptional changes in different cell types, highlighting the complex relationship between chromatin organization and gene regulation. Here, we systematically investigated the role of 3D genome architecture in gene regulation in mouse embryonic stem cells under various perturbation conditions. We found that acute depletion of cohesin or CTCF disrupts the formation of TADs, but affects gene regulation in a gene-specific and context-dependent manner.
View Article and Find Full Text PDFStructural maintenance of chromosomes (SMC) complexes organize genomes by extruding DNA loops, while replisomes duplicate entire chromosomes. These essential molecular machines must collide frequently in every cell cycle, yet how such collisions are resolved remains poorly understood. Taking advantage of the ability to load SMC complexes at defined sites in the genome, we engineered head-on and head-to-tail collisions between SMC complexes and the replisome.
View Article and Find Full Text PDFNature
February 2025
Institute of Molecular Physiology, Shenzhen Bay Laboratory, Shenzhen, China.
Mammalian genomes are folded through the distinct actions of structural maintenance of chromosome (SMC) complexes, which include the chromatin loop-extruding cohesin (extrusive cohesin), the sister chromatid cohesive cohesin and the mitotic chromosome-associated condensins. Although these complexes function at different stages of the cell cycle, they exist together on chromatin during the G2-to-M phase transition, when the genome structure undergoes substantial reorganization. Yet, how the different SMC complexes affect each other and how their interactions orchestrate the dynamic folding of the three-dimensional genome remain unclear.
View Article and Find Full Text PDFPolymers (Basel)
February 2025
Advanced Polymer Materials Group, Department of Bioresources and Polymer Science, Faculty of Chemical Engineering and Biotechnology, National University of Science and Technology POLITEHNICA Bucharest, 1-7 Gh. Polizu Street, 011061 Bucharest, Romania.
By the late 1970s, plastics had emerged as the most widely used materials globally. The discovery, development, and processing of diverse polymeric materials have profoundly shaped modern life and driven the expansion of numerous industries. Given the widespread interest in the utilization of these materials, it has become increasingly imperative to design their life cycles from the outset.
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