Vara, CovadongaPaytuví Gallart, AndreuCuartero, YasminaÁlvarez-González, LucíaMarín-Gual, LaiaGarcia, FranciscaFlorit-Sabater, BeatriuCapilla, LaiaSanchéz-Guillén, Rosa AnaSarrate, ZaidaCigliano, Riccardo AieseSanseverino, WalterSearle, Jeremy B.Ventura, JacintMartí Renom, Marc A.Le Dily, FrançoisRuiz Herrera, Aurora2021-11-262021-11-262021Vara C, Paytuví-Gallart A, Cuartero Y, Álvarez-González L, Marín-Gual L, Garcia F, Florit-Sabater B, Capilla L, Sanchéz-Guillén RA, Sarrate Z, Aiese Cigliano R, Sanseverino W, Searle JB, Ventura J, Marti-Renom MA, Le Dily F, Ruiz-Herrera A. The impact of chromosomal fusions on 3D genome folding and recombination in the germ line. Nat Commun. 2021;12(1):2981. DOI: 10.1038/s41467-021-23270-12041-1723http://hdl.handle.net/10230/49065The spatial folding of chromosomes inside the nucleus has regulatory effects on gene expression, yet the impact of genome reshuffling on this organization remains unclear. Here, we take advantage of chromosome conformation capture in combination with single-nucleotide polymorphism (SNP) genotyping and analysis of crossover events to study how the higher-order chromatin organization and recombination landscapes are affected by chromosomal fusions in the mammalian germ line. We demonstrate that chromosomal fusions alter the nuclear architecture during meiosis, including an increased rate of heterologous interactions in primary spermatocytes, and alterations in both chromosome synapsis and axis length. These disturbances in topology were associated with changes in genomic landscapes of recombination, resulting in detectable genomic footprints. Overall, we show that chromosomal fusions impact the dynamic genome topology of germ cells in two ways: (i) altering chromosomal nuclear occupancy and synapsis, and (ii) reshaping landscapes of recombination.application/pdfeng© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.info:eu-repo/semantics/articlehttp://dx.doi.org/10.1038/s41467-021-23270-1ChromosomesGenomeinfo:eu-repo/semantics/openAccess