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A pangenome framework uncovers the role of deletions in repeated evolution of cave-derived traits

    • 1Department of Ecology, Evolution, and Behavior, University of Minnesota, Saint Paul, Minnesota 55108, USA;
    • 2Division of Animal Sciences, University of Missouri, Columbia, Missouri 65211, USA;
    • 3School of Natural Sciences, Macquarie University, Sydney, New South Wales 2109, Australia;
    • 4Bond Life Sciences Center, University of Missouri, Columbia, Missouri 65211, USA;
    • 5Palaeogenomics Group, Institute of Palaeoanatomy, Domestication Research, and the History of Veterinary Medicine, Ludwig-Maximilians-Universität, 80539 Munich, Germany;
    • 6Division of Animal Sciences, Division of Plant Science and Technology, Institute for Data Science and Informatics, University of Missouri, Columbia, Missouri 65211, USA;
    • 7Department of Biology, Texas A&M University, College Station, Texas 77843, USA;
    • 8Institute of Integrative Cell Biology and Physiology, University of Münster, 48149 Münster, Germany;
    • 9Division of Animal Sciences, Department of Surgery, Institute for Data Science and Informatics, University of Missouri, Columbia, Missouri 65211, USA
    • 10 These authors contributed equally to this work.
Published August 13, 2026. https://doi.org/10.1101/gr.281719.125
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cover of Genome Research Vol 36 Issue 8
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Abstract

Structural variants (SVs) are increasingly recognized as key contributors to adaptive evolution, yet they remain underexplored compared with single-nucleotide variation. To understand how large-scale genomic changes shape repeated evolution, we leveraged multiple levels of sequence data across the powerful evolutionary model system of the Mexican tetra fish (Astyanax mexicanus). We constructed one of the first pangenome graphs from a naturally evolving vertebrate, enabling comprehensive discovery of SVs among 120 fish from 11 populations. We discover substantial amounts of structural variation and explore the roles of genomic biases and selection in shaping the distribution of these variants. More than 2400 high-confidence cave-specific deletions are enriched in biological pathways involved in vision, metabolism, and behavior and cluster nonrandomly in quantitative trait loci linked to cavefish traits. Additionally, 67 genes harbor unique deletions between independent cavefish lineages. These reused genes show evidence of population-specific selection (99% contain selective sweeps compared with 8%–15% in genes lacking SVs), indicating that deletions likely rose in frequency through repeated positive selection rather than drift. Together, these results reveal that recurrent deletion events have repeatedly contributed to the evolution of cave-adapted phenotypes and highlight deletions as underexplored contributors of adaptive evolution in extreme environments.

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