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

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• dc.contributor.author Giner Delgado, Carla
• dc.contributor.author Villatoro, Sergi
• dc.contributor.author Lerga Jaso, Jon
• dc.contributor.author Gayà Vidal, Magdalena
• dc.contributor.author Oliva, Meritxell
• dc.contributor.author Castellano Esteve, David
• dc.contributor.author Pantano Rubiño, Lorena, 1982-
• dc.contributor.author Bitarello, Bárbara D.
• dc.contributor.author Izquierdo, David
• dc.contributor.author Noguera, Isaac
• dc.contributor.author Olalde Marquínez, Íñigo, 1987-
• dc.contributor.author Delprat, Alejandra
• dc.contributor.author Blancher, Antoine
• dc.contributor.author Lalueza Fox, Carles, 1965-
• dc.contributor.author Esko, Tõnu
• dc.contributor.author O'Reilly, Paul F.
• dc.contributor.author Andrés Morán, Aida, 1976-
• dc.contributor.author Ferretti, Luca
• dc.contributor.author Puig, Marta
• dc.contributor.author Cáceres Aguilar, Mario
• dc.date.accessioned 2020-07-10T06:57:09Z
• dc.date.available 2020-07-10T06:57:09Z
• dc.date.issued 2019
• dc.description.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.
• dc.description.sponsorship This work was supported by research grants ERC Starting Grant 243212 (INVFEST) from the European Research Council under the European Union Seventh Research Framework Programme (FP7), BFU2013-42649-P and BFU2016-77244-R funded by the Agencia Estatal de Investigación (AEI, Spain) and the European Regional Development Fund (FEDER, EU), and 2014-SGR-1346 and 2017-SGR-1379 from the Generalitat de Catalunya (Spain) to M.C., a PIF PhD fellowship from the Universitat Autònoma de Barcelona (Spain) to C.G.D., a La Caixa Doctoral fellowship to J.L.J., and a FPI PhD fellowship from the Ministerio de Economía y Competitividad (Spain) to M.O. and I.N. M.G.V. was supported in part by POCI-01-0145-FEDER-006821 funded through the Operational Programme for Competitiveness Factors (COMPETE, EU) and UID/BIA/50027/2013 from the Foundation for Science and Technology (FCT, Portugal).
• dc.format.mimetype application/pdf
• dc.identifier.citation Giner-Delgado C, Villatoro S, Lerga-Jaso J, Gayà-Vidal M, Oliva M, Castellano D, Pantano L, Bitarello BD, Izquierdo D, Noguera I, Olalde I, Delprat A, Blancher A, Lalueza-Fox C, Esko T, O'Reilly PF, Andrés AM, Ferretti L, Puig M, Cáceres M. Nat Commun. 2019; 10(1):4222. DOI: 10.1038/s41467-019-12173-x
• dc.identifier.doi http://dx.doi.org/10.1038/s41467-019-12173-x
• dc.identifier.issn 2041-1723
• dc.identifier.uri http://hdl.handle.net/10230/45097
• dc.language.iso eng
• dc.publisher Nature Research
• dc.relation.ispartof Nat Commun. 2019; 10(1):4222
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/243212
• dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/BFU2013-42649-P
• dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/BFU2016-77244-R
• dc.rights © The Author(s) 2019. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Gene expression profiling
• dc.subject.keyword Genome evolution
• dc.subject.keyword Population genetics
• dc.subject.keyword Structural variation
• dc.title Evolutionary and functional impact of common polymorphic inversions in the human genome
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion