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Signature of recent historical events in the European Y-chromosomal STR haplotype distribution

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Abstract

Previous studies of human Y-chromosomal single-nucleotide polymorphisms (Y-SNPs) established a link between the extant Y-SNP haplogroup distribution and the prehistoric demography of Europe. By contrast, our analysis of seven rapidly evolving Y-chromosomal short tandem repeat loci (Y-STRs) in over 12,700 samples from 91 different locations in Europe reveals a signature of more recent historic events, not previously detected by other genetic markers. Cluster analysis based upon molecular variance yields two clearly identifiable sub-clusters of Western and Eastern European Y-STR haplotypes, and a diverse transition zone in central Europe, where haplotype spectra change more rapidly with longitude than with latitude. This and other observed patterns of Y-STR similarity may plausibly be related to particular historical incidents, including, for example, the expansion of the Franconian and Ottoman Empires. We conclude that Y-STRs may be capable of resolving male genealogies to an unparalleled degree and could therefore provide a useful means to study local population structure and recent demographic history.

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Acknowledgements

The authors wish to thank Wulf Schiefenhövel, Andechs, for helpful comments and criticisms, and Brian Fulfrost of the UCSC GIS Technology Lab for valuable advice on geo-spatial data interpolation and visualisation.

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Authors and Affiliations

  1. Institute of Legal Medicine, Humboldt-University, Berlin, Germany

    Lutz Roewer & Sascha Willuweit

  2. First Department of Medicine, Christian-Albrechts-University, Kiel, Germany

    Peter J. P. Croucher

  3. Institute of Medical Informatics and Statistics, Christian-Albrechts-University, Brunswiker Strasse 10, Kiel, Germany

    Peter J. P. Croucher, Tim T. Lu & Michael Krawczak

  4. Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Germany

    Manfred Kayser

  5. Department of Forensic Molecular Biology, Erasmus University, Rotterdam, The Netherlands

    Manfred Kayser

  6. Institute of Legal Medicine, University of Leipzig, Germany

    Rüdiger Lessig

  7. Forensic Laboratory for DNA Research, Leiden University, The Netherlands

    Peter de Knijff

  8. Department of Genetics, University of Leicester, UK

    Mark A. Jobling

  9. The Wellcome Trust Sanger Institute, Hinxton, UK

    Chris Tyler-Smith

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  1. Lutz Roewer
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Corresponding author

Correspondence to Michael Krawczak.

Additional information

L. Roewer and P.J.P. Croucher contributed equally to this paper.

Publication of this paper is being undertaken on behalf of the Forensic Y-Chromosome Research Group

Publication of this paper is being undertaken on behalf of the Forensic Y-Chromosome Research Group

M. Aler1, A. Alonso2, C. Alves3, M. Alù4, A. Amorim3, K. Anslinger5, E. Arroyo6, A. Asmundo7, C. Augustin8, D. Ballard9, L. Barbarii10, G. Bäßler11, A. Betz11, G. Bläß12, E. Bosch13, W. Branicki14, A. Brehm15, M. Brion16, L. Buscemi17, L. Caenazzo18, A. Cagliá19, E. Carnevali20, E. Carra21, A. Carracedo16, K. Crainic22, Z. de Battisti23, D. Dermengiu24, T. Dobosz25, R. Dominici26, B.M. Dupuy27, A.T. Fernandes15, I. Furac28, S. Füredi29, J. García2, C. Gehrig30, M. Gené31, B. Gornjak Pogorelc32, B. Glock33, L. Gusmão3, M. Hedman34, K. Hedrich35, J. Henke 36, L. Henke36, M. Hidding M37, C. Hohoff38, G. Holmlund39, B. Hoste40, H.-J Kärgel35, C. Keyser-Traqui41, M. Klintschar M42, S. Kravchenko43, I. Kremensky44, T. Kupiec14, M.V. Lareu16, B. Legrand22, E. Liebeherr12, S.A. Limborska45, L.A. Livshits43, A.M. López-Parra6, M. Lorente46, B. Ludes 41, P. Martín2, B. Martinez-Jarreta B47, M.S. Mesa6, D.M. Monies48, M. Nagy49, P. Nievas47, S. Noerby50, M. Nowak51, K.S. Parreira16, W. Parson52, V. Pascali19, R. Pawlowski14, 53, A. Piccinini54, R. Ploski51, M. Poetsch55, C. Previderé56, B. Reichenpfader57, U. Ricci58, C. Robino59, B. Rolf 5, A. Sajantila34, A. Salas16, P. Sánchez-Diz16, U. Schmidt60, C. Schmitt37, P.M. Schneider61, I. Skitsa62, D. Syndercombe Court9, R. Szibor63, A. Tagliabracci17, J. Teifel-Greding64, K. Thiele65, M.L.G Uzielli58, N. von Wurmb-Schwark66, R. Wegener67, M. Wozniak68, B. Zaharova44, M.T. Zarrabeitia69, I. Zupanic Pajnic32

1Laboratory of Forensic Genetics, Department of Legal Medicine, University of Valencia, Spain; 2National Institute of Toxicology, Biology Services, Ministry of Justice, Madrid, Spain; 3Institute of Pathology and Molecular Immunology, University of Porto, Portugal; 4Department of Morphological and Forensic Sciences, University of Modena and Reggio Emilia, Italy; 5Institute of Legal Medicine, Ludwig-Maximilians-University, Munich, Germany; 6Laboratory of Forensic Biology, Universidad Complutense de Madrid, Spain; 7Institute of Legal Medicine, University of Messina, Italy; 8Institute of Legal Medicine, University of Hamburg, Germany; 9Department of Haematology, Queen Mary School of Medicine and Dentistry, London, UK; 10National Institute of Legal Medicine, Bucharest, Romania; 11State Criminal Police Office Baden-Württemberg, Stuttgart, Germany; 12State Criminal Police Office, Berlin, Germany; 13Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona, Spain; 14Institute of Forensic Research, Kraków, Poland; 15Centre of Biological and Geological Sciences, University of Madeira, Funchal, Portugal; 16Institute of Legal Medicine, University of Santiago de Compostela, Spain; 17Institute of Legal Medicine, University of Ancona, Italy; 18Institute of Legal Medicine, University of Padova, Italy; 19Institute of Legal Medicine, Catholic University, Rome, Italy; 20Institute of Legal Medicine, University of Perugia, Italy; 21Department of Cellular Biology and Development, University of Palermo, Italy; 22Department of Legal Medicine, University René Descartes, Paris, France; 23Institute of Legal Medicine, University of Verona, Italy; 24Department of Legal Medicine, University of Medicine and Pharmacy, Bucharest, Romania; 25Institute of Forensic Medicine, Medical University, Wroclaw, Poland; 26Section of Legal Medicine, Department of Experimental Biomedicine, University of Pisa, Italy; 27Institute of Forensic Medicine, University of Oslo, Norway; 28Department of Forensic Medicine and Criminology, University of Zagreb, Croatia; 29Hungarian National Police, Budapest, Hungary; 30Institute of Legal Medicine, University of Geneva, Switzerland; 31Forensic Genetics Laboratory, University of Barcelona, Spain; 32Institute of Forensic Medicine, University of Ljubljana, Slovenia; 33Clinical Department for Blood Group Serology, University of Vienna, Austria; 34Department of Forensic Medicine, University of Helsinki, Finland; 35State Criminal Police Office Sachsen-Anhalt, Magdeburg, Germany; 36Institut für Blutgruppenforschung, Cologne, Germany; 37Institute of Legal Medicine, University of Cologne, Germany; 38Institute of Legal Medicine, University of Münster, Germany; 39The National Board of Forensic Medicine, Department of Forensic Genetics, Linköping, Sweden; 40National Institute of Criminalistics and Criminology, Brussels, Belgium; 41Institute of Legal Medicine, University of Strasbourg, France; 42Institute of Legal Medicine, Martin-Luther-University, Halle-Wittenberg, Germany; 43Department of Human Genomics, Institute of Molecular Biology and Genetics, Kiev, Ukraine; 44Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynaecology, Sofia, Bulgaria; 45Institute of Molecular Genetics, RAS, Moscow, Russia; 46Department of Legal Medicine, University of Granada, Spain; 47Department of Forensic Medicine, University of Zaragoza, Spain; 48Institute of Forensic Medicine, Medical University, Lublin, Poland; 49Institute of Legal Medicine, Humboldt-University, Berlin, Germany; 50Institute of Forensic Medicine, University of Copenhagen, Denmark; 51Department of Forensic Medicine, Medical Academy Warsaw, Poland; 52Institute of Legal Medicine, University of Innsbruck, Austria; 53Institute of Forensic Medicine, Medical University of Gdansk, Poland; 54Institute of Legal Medicine, University of Milan, Italy; 55Institute of Legal Medicine, Ernst-Moritz-Arndt-University, Greifswald, Germany; 56Department of Legal Medicine and Public Health, University of Pavia, Italy; 57Institute of Legal Medicine, University of Graz, Austria; 58Centre of Medical Genetics and Molecular Medicine, University of Florence, Italy; 59Laboratory of Criminalistic Sciences, University of Torino, Italy; 60Institute of Legal Medicine, Albert-Ludwigs-University, Freiburg, Germany; 61Institute of Legal Medicine, Johannes-Gutenberg-University, Mainz, Germany; 62Athens Legal Medicine Department, DNA Analysis Laboratory, Athens, Greece; 63Institute of Legal Medicine, Otto-von-Guericke-University, Magdeburg, Germany; 64State Criminal Police Office Bavaria, Munich, Germany; 65Institute of Legal Medicine, University of Leipzig, Germany; 66Institute of Legal Medicine, Christian-Albrechts-University, Kiel, Germany; 67Institute of Legal Medicine, University of Rostock, Germany; 68Institute of Forensic Medicine, University School of Medical Sciences, Bydgoszcz, Poland; 69Unit of Legal Medicine, University of Cantabria, Santander, Spain

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Roewer, L., Croucher, P.J.P., Willuweit, S. et al. Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet 116, 279–291 (2005). https://doi.org/10.1007/s00439-004-1201-z

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