Y-chromosome target enrichment reveals rapid expansion of haplogroup R1b-DF27 in Iberia during the Bronze Age transition
García-Fernández, Carla (Universitat Pompeu Fabra)
Lizano, Esther (Institut Català de Paleontologia Miquel Crusafont)
Telford, Marco (Universitat Pompeu Fabra)
Olalde, Íñigo (Universidad del País Vasco. Grupo de Investigación BIOMICs)
de Cid, Rafael (Institut Germans Trias i Pujol)
Larmuseau, Maarten H. D. (University of Antwerp. ARCHES-Antwerp Cultural Heritage Sciences)
de Pancorbo, Marian M. (Universidad del País Vasco. Grupo de Investigación BIOMICs)
Calafell, Francesc (Universitat Pompeu Fabra)

Data:	2022
Resum:	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.
Ajuts:	Agencia Estatal de Investigación PID2019-106485GB-I00 Agencia Estatal de Investigación CEX2018-000792-M Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-00702 Agencia Estatal de Investigación PID2020-116908GB-I00 Ministerio de Ciencia e Innovación RYC2019-027909-I Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-529
Nota:	Altres ajuts: CERCA Programme/Generalitat de Catalunya i Acción de Dinamización del ISCIII-MINECO i el Departament de Salut de la Generalitat de Catalunya (ADE 10/00026)
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Biological anthropology ; Phylogenomics ; Population genetics
Publicat a:	Scientific reports, Vol. 12 (December 2022) , art. 20708, ISSN 2045-2322

DOI: 10.1038/s41598-022-25200-7
PMID: 36456614

12 p, 1.5 MB

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