Y-chromosome target enrichment reveals rapid expansion of haplogroup R1b-DF27 in Iberia during the Bronze Age transition

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• dc.contributor.author García-Fernández, Carla
• dc.contributor.author Lizano González, Esther, 1974-
• dc.contributor.author Telford, Marco, 1984-
• dc.contributor.author Olalde Marquínez, Íñigo, 1987-
• dc.contributor.author Cid Ibeas, Rafael de
• dc.contributor.author Larmuseau, Maarten H. D.
• dc.contributor.author Pancorbo, Marian M. de
• dc.contributor.author Calafell i Majó, Francesc
• dc.date.accessioned 2023-01-17T12:57:42Z
• dc.date.available 2023-01-17T12:57:42Z
• dc.date.issued 2022
• dc.description.abstract The Y chromosome can yield a unique perspective into the study of human demographic history. However, due to the repetitive nature of part of its sequence, only a small set of regions are suitable for variant calling and discovery from short-read sequencing data. These regions combined represent 8.9 Mbp or 0.14% of a diploid human genome. Consequently, investing in whole-genome sequencing to resolve Y-chromosome questions is poorly efficient. Here we use, as an alternative, target enrichment technology to greatly increase sequencing effectiveness, validating and applying the technique to 181 males, for 162 of whom we obtained a positive result. Additionally, 75 samples sequenced for the whole genome were also included, for a total sample size of 237. These samples were chosen for their Y chromosome haplogroup: R1b-DF27. In the context of European populations, and particularly in Iberia, this haplogroup stands out for its high frequency and its demographic history. Current evidence indicates that the diffusion of this haplogroup is related to the population movements that mark the cultural Bronze Age transition, making it remarkably interesting for population geneticists. The results of this study show the effects of the rapid radiation of the haplogroup in Spain, as even with the higher discriminating power of whole sequences, most haplotypes still fall within the R1b-DF27* paragroup rather than in the main derived branches. However, we were able to refine the ISOGG 2019-2020 phylogeny, and its two main subbranches, namely L176.2 and Z272, which present geographical differentiation between the Atlantic and Mediterranean coasts of Iberia.
• dc.description.sponsorship This work was funded by the Spanish Ministry of Economy and Competitiveness and Agencia Estatal de Investigación (grant number PID2019-106485GB-I00/AEI/10.13039/501100011033), and “Unidad María de Maeztu” (CEX2018-000792-M); and Agència de Gestió d’Ajuts Universitaris i de la Recerca (Generalitat de Catalonia, grant 2017SGR00702).  E.L. is supported by funding from the CERCA Programme (Generalitat de Catalonia) and from Ministerio de Ciencia e Innovación, Spanish Government (PID2020-116908GB-100). I.O. is supported by a Ramón y Cajal grant from Ministerio de Ciencia e Innovación, Spanish Government (RYC2019-027909-I/AEI/10.13039/501100011033). This study makes use of data generated by the GCAT-Genomes for Life Cohort study of the Genomes of Catalonia, IGTP, with GCAT Cession reference number PI-2018-03. IGTP is part of the CERCA Program/Generalitat de Catalonia. GCAT is supported by Acción de Dinamización del ISCIII-MINECO and the Ministry of Health of the Generalitat of Catalonia (ADE 10/00026); the Agència de Gestió d’Ajuts Universitaris i de Recerca (AGAUR) (2017-SGR 529).We acknowledge the work of the GCAT project group, the Blood and Tissue Bank from Catalonia (BST) and all the GCAT volunteers that participated in the study. A full list of the investigators who contributed to the generation of the data is available from http://www.genomesforlife.com/.
• dc.format.mimetype application/pdf
• dc.identifier.citation García-Fernández C, Lizano E, Telford M, Olalde Í, de Cid R, Larmuseau MHD, M de Pancorbo M, Calafell F. Y-chromosome target enrichment reveals rapid expansion of haplogroup R1b-DF27 in Iberia during the Bronze Age transition. Sci Rep. 2022 Dec 1;12(1):20708. DOI: 10.1038/s41598-022-25200-7
• dc.identifier.doi http://dx.doi.org/10.1038/s41598-022-25200-7
• dc.identifier.issn 2045-2322
• dc.identifier.uri http://hdl.handle.net/10230/55315
• dc.language.iso eng
• dc.publisher Nature Research
• dc.relation.ispartof Sci Rep. 2022 Dec 1;12(1):20708
• dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/PID2019-106485GB-I00
• dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/PID2020-116908GB-100
• dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/RYC2019-027909-I
• dc.rights © The Author(s) 2022. 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, 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 Biological anthropology
• dc.subject.keyword Phylogenomics
• dc.subject.keyword Population genetics
• dc.title Y-chromosome target enrichment reveals rapid expansion of haplogroup R1b-DF27 in Iberia during the Bronze Age transition
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion