Journal
NATURE COMMUNICATIONS
Volume 10, Issue -, Pages -Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41467-019-12173-x
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Funding
- European Research Council under the European Union [243212]
- Agencia Estatal de Investigacion (AEI, Spain) [BFU2013-42649-P, BFU2016-77244-R]
- European Regional Development Fund (FEDER, EU)
- Generalitat de Catalunya (Spain) [2014-SGR-1346, 2017-SGR-1379]
- Universitat Autonoma de Barcelona (Spain)
- La Caixa Doctoral fellowship
- Ministerio de Economia y Competitividad (Spain)
- Operational Programme for Competitiveness Factors (COMPETE, EU) [POCI-01-0145-FEDER-006821]
- Foundation for Science and Technology (FCT, Portugal) [UID/BIA/50027/2013]
- European Research Council (ERC) [243212] Funding Source: European Research Council (ERC)
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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.
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