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Evolutionary and functional impact of common polymorphic inversions in the human genome

Author

Listed:
  • Carla Giner-Delgado

    (Universitat Autònoma de Barcelona, Bellaterra
    Universitat Autònoma de Barcelona, Bellaterra)

  • Sergi Villatoro

    (Universitat Autònoma de Barcelona, Bellaterra)

  • Jon Lerga-Jaso

    (Universitat Autònoma de Barcelona, Bellaterra)

  • Magdalena Gayà-Vidal

    (Universitat Autònoma de Barcelona, Bellaterra
    Universidade do Porto, Vairão)

  • Meritxell Oliva

    (Universitat Autònoma de Barcelona, Bellaterra)

  • David Castellano

    (Universitat Autònoma de Barcelona, Bellaterra)

  • Lorena Pantano

    (Universitat Autònoma de Barcelona, Bellaterra)

  • Bárbara D. Bitarello

    (Max Planck Institute for Evolutionary Anthropology)

  • David Izquierdo

    (Universitat Autònoma de Barcelona, Bellaterra)

  • Isaac Noguera

    (Universitat Autònoma de Barcelona, Bellaterra)

  • Iñigo Olalde

    (CSIC-Universitat Pompeu Fabra)

  • Alejandra Delprat

    (Universitat Autònoma de Barcelona, Bellaterra)

  • Antoine Blancher

    (IFB Hôpital Purpan
    Université de Toulouse, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (Inserm), Université Paul Sabatier (UPS))

  • Carles Lalueza-Fox

    (CSIC-Universitat Pompeu Fabra)

  • Tõnu Esko

    (University of Tartu)

  • Paul F. O’Reilly

    (King’s College London)

  • Aida M. Andrés

    (Max Planck Institute for Evolutionary Anthropology
    University College London)

  • Luca Ferretti

    (University of Oxford)

  • Marta Puig

    (Universitat Autònoma de Barcelona, Bellaterra)

  • Mario Cáceres

    (Universitat Autònoma de Barcelona, Bellaterra
    ICREA)

Abstract

Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about polymorphic inversions in the human genome due to the difficulty of their detection. Here, we develop a new high-throughput genotyping method based on probe hybridization and amplification, and we perform a complete study of 45 common human inversions of 0.1–415 kb. Most inversions promoted by homologous recombination occur recurrently in humans and great apes and they are not tagged by SNPs. Furthermore, there is an enrichment of inversions showing signatures of positive or balancing selection, diverse functional effects, such as gene disruption and gene-expression changes, or association with phenotypic traits. Therefore, our results indicate that the genome is more dynamic than previously thought and that human inversions have important functional and evolutionary consequences, making possible to determine for the first time their contribution to complex traits.

Suggested Citation

  • Carla Giner-Delgado & Sergi Villatoro & Jon Lerga-Jaso & Magdalena Gayà-Vidal & Meritxell Oliva & David Castellano & Lorena Pantano & Bárbara D. Bitarello & David Izquierdo & Isaac Noguera & Iñigo Ola, 2019. "Evolutionary and functional impact of common polymorphic inversions in the human genome," Nature Communications, Nature, vol. 10(1), pages 1-14, December.
    • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-12173-x
    DOI: 10.1038/s41467-019-12173-x
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    Cited by:

    1. Xuezhu Liao & Dejin Xie & Tingting Bao & Mengmeng Hou & Cheng Li & Bao Nie & Shichao Sun & Dan Peng & Haixiao Hu & Hongru Wang & Yongfu Tao & Yu Zhang & Wei Li & Li Wang, 2024. "Inversions encounter relaxed genetic constraints and balance birth and death of TPS genes in Curcuma," Nature Communications, Nature, vol. 15(1), pages 1-15, December.

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