The impact of chromosomal fusions on 3D genome folding and recombination in the germ line

Covadonga Vara, Andreu Paytuví-Gallart, Yasmina Cuartero, Lucía Álvarez-González, Laia Marín-Gual, Francisca Garcia, Beatriu Florit-Sabater, Laia Capilla, Rosa Ana Sanchéz-Guillén, Zaida Sarrate, Riccardo Aiese Cigliano, Walter Sanseverino, Jeremy B. Searle, Jacint Ventura, Marc A. Marti-Renom, François Le Dily, Aurora Ruiz-Herrera*

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

7 Citations (Scopus)


The 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. How mammalian genomes are packaged and the heritability of structural variations in genome folding is incomplete. Here, the authors investigate the impact of chromosomal fusions on three-dimensional genome topology and meiotic recombination, highlighting the implications of large-scale genome reorganizations on genome function, evolution, and fertility.

Original languageEnglish
Article number2981
Number of pages17
JournalNature communications
Issue number1
Publication statusPublished - 1 Dec 2021


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