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

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.

Bibliographic Details

Main Authors:	Giner-Delgado, Carla, Villatoro, Sergi, Lerga-Jaso, Jon, Gayà-Vidal, Magdalena, Oliva, Meritxell, Castellano, David, Pantano, Lorena, Bitarello, B.D., Izquierdo, David, Noguera, Isaac, Olalde, Iñigo, Delprat, Alejandra, Blancher, Antoine, Lalueza-Fox, Carles, Esko, Tonu, O'Reilly, Paul F., Andrés, Aida M., Ferretti, Luca, García-Puig, Marta, Cáceres, Mario
Other Authors:	European Research Council
Format:	artículo biblioteca
Published:	Nature Publishing Group 2019-09-17
Subjects:	Gene expression profiling, Genome evolution, Population genetics, Structural variation,
Online Access:	http://hdl.handle.net/10261/207204 http://dx.doi.org/10.13039/501100000781 http://dx.doi.org/10.13039/501100003329 http://dx.doi.org/10.13039/501100000780 http://dx.doi.org/10.13039/501100002809 http://dx.doi.org/10.13039/501100011104 http://dx.doi.org/10.13039/501100001871
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