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 and Aurora Ruiz-Herrera ()
Additional contact information
Covadonga Vara: Universitat Autònoma de Barcelona
Andreu Paytuví-Gallart: Universitat Autònoma de Barcelona
Yasmina Cuartero: Centre for Genomic Regulation, The Barcelona Institute for Science and Technology
Lucía Álvarez-González: Universitat Autònoma de Barcelona
Laia Marín-Gual: Universitat Autònoma de Barcelona
Francisca Garcia: Universitat Autònoma de Barcelona
Beatriu Florit-Sabater: Universitat Autònoma de Barcelona
Laia Capilla: Universitat Autònoma de Barcelona
Rosa Ana Sanchéz-Guillén: Universitat Autònoma de Barcelona
Zaida Sarrate: Universitat Autònoma de Barcelona
Riccardo Aiese Cigliano: Sequentia Biotech
Walter Sanseverino: Sequentia Biotech
Jeremy B. Searle: Corson Hall, Cornell University
Jacint Ventura: Universitat Autònoma de Barcelona
Marc A. Marti-Renom: Centre for Genomic Regulation, The Barcelona Institute for Science and Technology
François Le Dily: Centre for Genomic Regulation, The Barcelona Institute for Science and Technology
Aurora Ruiz-Herrera: Universitat Autònoma de Barcelona

Nature Communications, 2021, vol. 12, issue 1, 1-17

Abstract: Abstract 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.

Date: 2021
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-23270-1

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DOI: 10.1038/s41467-021-23270-1

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