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Eur J Hum Genet. 2016 Mar;24(3):437-41. doi: 10.1038/ejhg.2015.114. Epub 2015 Jun 17.

New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia.

Author information

BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU, Vitoria-Gasteiz, Spain.
Progenika Biopharma SA (a Grifols company), Bizkaia Technology Park, Derio, Spain.
Department of Molecular Biology, Faculty of Science and Technology, University of the Basque Country UPV/EHU, Bilbao, Spain.
Inserm UMR1078, Génétique, Génomique fonctionnelle et Biotechnologies, Brest, France.
National Neuroscience Centre, Beaumont Hospital, Dublin, Ireland.
Forensic and Legal Medicine Area, Department of Physiology and Pharmacology, University of Cantabria, Cantabria, Spain.
Forensic Medicine Division, Department of Pathology and Surgery, University Miguel Hernandez Elche, Alicante, Spain.
Forensic Genetics Department, National Institute of Legal Medicine and Forensic Sciences, Porto, Portugal.
Laboratory of Genetics and Genetic Identification, Department of Pharmacology, University of Zaragoza, Zaragoza, Spain.
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.


The dissection of S116 in more than 1500 individuals from Atlantic Europe and the Iberian Peninsula has provided important clues about the controversial evolutionary history of M269. First, the results do not point to an origin of M269 in the Franco-Cantabrian refuge, owing to the lack of sublineage diversity within M269, which supports the new theories proposing its origin in Eastern Europe. Second, S116 shows frequency peaks and spatial distribution that differ from those previously proposed, indicating an origin farther west, and it also shows a high frequency in the Atlantic coastline. Third, an outstanding frequency of the DF27 sublineage has been found in Iberia, with a restricted distribution pattern inside this peninsula and a frequency maximum in the area of the Franco-Cantabrian refuge. This entire panorama indicates an old arrival of M269 into Western Europe, because it has generated at least two episodes of expansion in the Franco-Cantabrian area. This study demonstrates the importance of continuing the dissection of the M269 lineage in different European populations because the discovery and study of new sublineages can adjust or even completely revise the theories about European peopling, as has been the case for the place of origin of M269.

[Available on 2017-03-01]
[Indexed for MEDLINE]
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