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

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 Olalde, Alejandra Delprat, Antoine Blancher, Carles Lalueza-Fox, Tõnu Esko, Paul F. O’Reilly, Aida M. Andrés, Luca Ferretti, Marta Puig and Mario Cáceres ()
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Carla Giner-Delgado: 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
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
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
Luca Ferretti: University of Oxford
Marta Puig: Universitat Autònoma de Barcelona, Bellaterra
Mario Cáceres: Universitat Autònoma de Barcelona, Bellaterra

Nature Communications, 2019, vol. 10, issue 1, 1-14

Abstract: 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.

Date: 2019
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DOI: 10.1038/s41467-019-12173-x

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