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Principles of 3D chromosome folding and evolutionary genome reshuffling in mammals

Álvarez-González, Lucía, Arias-Sardá, Cristina, Montes-Espuña, Laia, Marín-Gual, Laia, Vara, Covadonga, Lister, Nicholas C, Cuartero, Yasmina, Garcia, Francisca, Deakin, Janine, Renfree, Marilyn B, and others. (2022) Principles of 3D chromosome folding and evolutionary genome reshuffling in mammals. Cell Reports, 41 (12). Article Number 111839. ISSN 2211-1247. (doi:10.1016/j.celrep.2022.111839) (KAR id:99394)


Studying the similarities and differences in genomic interactions between species provides fertile grounds for determining the evolutionary dynamics underpinning genome function and speciation. Here, we describe the principles of 3D genome folding in vertebrates and show how lineage-specific patterns of genome reshuffling can result in different chromatin configurations. We (1) identified different patterns of chromosome folding in across vertebrate species (centromere clustering versus chromosomal territories); (2) reconstructed ancestral marsupial and afrotherian genomes analyzing whole-genome sequences of species representative of the major therian phylogroups; (3) detected lineage-specific chromosome rearrangements; and (4) identified the dynamics of the structural properties of genome reshuffling through therian evolution. We present evidence of chromatin configurational changes that result from ancestral inversions and fusions/fissions. We catalog the close interplay between chromatin higher-order organization and therian genome evolution and introduce an interpretative hypothesis that explains how chromatin folding influences evolutionary patterns of genome reshuffling.

Item Type: Article
DOI/Identification number: 10.1016/j.celrep.2022.111839
Uncontrolled keywords: Animals, TADs, Evolution, Molecular, CTCF, Chromatin - genetics, Mammals - genetics, compartments, Hi-C, 3D genome, Chromosomes - genetics, marsupials, mammals, inversions, Vertebrates - genetics, CP: Molecular biology, ancestral karyotype, afrotheria, Genome, Marsupialia
Subjects: Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH581.2 Cell Biology
Divisions: Divisions > Division of Natural Sciences > Biosciences
Funders: Australian Research Council (
Ministry of Economy, Industry and Competitiveness (
University of Kent (
SWORD Depositor: JISC Publications Router
Depositing User: JISC Publications Router
Date Deposited: 10 Feb 2023 15:14 UTC
Last Modified: 04 Mar 2024 16:35 UTC
Resource URI: (The current URI for this page, for reference purposes)

University of Kent Author Information

Arias-Sardá, Cristina.

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Farré, Marta.

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