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A high-resolution map of small-scale inversions in the gibbon genome

    • 1Dipartimento di Biologia, Università degli Studi di Bari “Aldo Moro”, Bari 70125, Italy;
    • 2IBIOM, Institute of Biomembranes, Bioenergetics, and Molecular Biotechnology, Bari 70125, Italy;
    • 3Estonian Biocentre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia;
    • 4European Molecular Biology Laboratory (EMBL), Genome Biology Unit, 69117 Heidelberg, Germany;
    • 5Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, 10115 Berlin, Germany;
    • 6Berlin Institute of Health (BIH), 10178 Berlin, Germany;
    • 7Charité-Universitätsmedizin, 10117 Berlin, Germany;
    • 8Consiglio per la Ricerca in Agricoltura e l'Analisi dell'Economia Agraria-Centro di Ricerca Viticoltura ed Enologia (CREA-VE), Turi 70010, Italy
Published September 30, 2022. Vol 32 Issue 10, pp. 1941-1951. https://doi.org/10.1101/gr.276960.122
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Abstract

Gibbons are the most speciose family of living apes, characterized by a diverse chromosome number and rapid rate of large-scale rearrangements. Here we performed single-cell template strand sequencing (Strand-seq), molecular cytogenetics, and deep in silico analysis of a southern white-cheeked gibbon genome, providing the first comprehensive map of 238 previously hidden small-scale inversions. We determined that more than half are gibbon specific, at least fivefold higher than shown for other primate lineage-specific inversions, with a significantly high number of small heterozygous inversions, suggesting that accelerated evolution of inversions may have played a role in the high sympatric diversity of gibbons. Although the precise mechanisms underlying these inversions are not yet understood, it is clear that segmental duplication–mediated NAHR only accounts for a small fraction of events. Several genomic features, including gene density and repeat (e.g., LINE-1) content, might render these regions more break-prone and susceptible to inversion formation. In the attempt to characterize interspecific variation between southern and northern white-cheeked gibbons, we identify several large assembly errors in the current GGSC Nleu3.0/nomLeu3 reference genome comprising more than 49 megabases of DNA. Finally, we provide a list of 182 candidate genes potentially involved in gibbon diversification and speciation.

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