The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269

Author:

Busby George B. J.1,Brisighelli Francesca123,Sánchez-Diz Paula2,Ramos-Luis Eva2,Martinez-Cadenas Conrado1,Thomas Mark G.4,Bradley Daniel G.5,Gusmão Leonor6,Winney Bruce7,Bodmer Walter7,Vennemann Marielle89,Coia Valentina310,Scarnicci Francesca11,Tofanelli Sergio12,Vona Giuseppe13,Ploski Rafal14,Vecchiotti Carla15,Zemunik Tatijana16,Rudan Igor1617,Karachanak Sena18,Toncheva Draga18,Anagnostou Paolo319,Ferri Gianmarco20,Rapone Cesare21,Hervig Tor22,Moen Torolf23,Wilson James F.1724,Capelli Cristian1

Affiliation:

1. Department of Zoology, University of Oxford, Oxford, UK

2. Institute of Forensic Sciences Luis Concheiro, Genomics Medicine Group, University of Santiago de Compostela, Spain

3. Department of Environmental Biology, Histology, Legal Medicine and Locomotory System, University of Rome ‘La Sapienza’, Rome, Italy

4. Department of Genetics, Evolution and Environment, University College London, London, UK

5. Smurfit Institute of Genetics, Trinity College Dublin, Republic of Ireland

6. IPATIMUP, Institute of Pathology and Molecular Immunology of the University of Porto, Portugal

7. Department of Clinical Pharmacology, University of Oxford, Oxford, UK

8. Centre for Forensic Science, University of Strathclyde, Glasgow, UK

9. Institute of Legal Medicine, University of Freiburg, Freiburg, Germany

10. Department of Philosophy, History and Cultural heritage, University of Trento, Trento, Italy

11. Department of Legal Medicine, University ‘Cattolica del Sacro Cuore’, Rome, Italy

12. Department of Biology, University of Pisa, Pisa, Italy

13. Department of Experimental Biology, University of Cagliari, Monserrato-Cagliari, Italy

14. Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland

15. Department of Anatomy, Histology, Legal Medicine and Locomotory System, University of Rome ‘La Sapienza’, Rome, Italy

16. Croatian Centre for Global Health, University of Split School of Medicine, Split, Croatia

17. Centre for Population Health Sciences, University of Edinburgh, Teviot Place, Edinburgh, Scotland, UK

18. Department of Medical Genetics, Medical University of Sofia, Sofia, Bulgaria

19. Department of Evolutionary and Experimental Biology, University of Bologna, Italy

20. Section of Legal Medicine, Department of Diagnostic and Laboratory Services and Legal Medicine, University of Modena and Reggio Emilia, Modena, Italy

21. Biology Section, Carabinieri Scientific Research Department, Rome, Italy

22. The Gade Institute, University of Bergen, Norway

23. Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, NTNU, Trondheim, Norway

24. Ethnoancestry Limited, Edinburgh, UK

Abstract

Recently, the debate on the origins of the major European Y chromosome haplogroup R1b1b2-M269 has reignited, and opinion has moved away from Palaeolithic origins to the notion of a younger Neolithic spread of these chromosomes from the Near East. Here, we address this debate by investigating frequency patterns and diversity in the largest collection of R1b1b2-M269 chromosomes yet assembled. Our analysis reveals no geographical trends in diversity, in contradiction to expectation under the Neolithic hypothesis, and suggests an alternative explanation for the apparent cline in diversity recently described. We further investigate the young, STR-based time to the most recent common ancestor estimates proposed so far for R-M269-related lineages and find evidence for an appreciable effect of microsatellite choice on age estimates. As a consequence, the existing data and tools are insufficient to make credible estimates for the age of this haplogroup, and conclusions about the timing of its origin and dispersal should be viewed with a large degree of caution.

Publisher

The Royal Society

Subject

General Agricultural and Biological Sciences,General Environmental Science,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Medicine

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