Original Investigation

Human Genetics

, Volume 116, Issue 4, pp 279-291

First online:

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

  • Lutz RoewerAffiliated withInstitute of Legal Medicine, Humboldt-University
  • , Peter J. P. CroucherAffiliated withFirst Department of Medicine, Christian-Albrechts-UniversityInstitute of Medical Informatics and Statistics, Christian-Albrechts-University
  • , Sascha WilluweitAffiliated withInstitute of Legal Medicine, Humboldt-University
  • , Tim T. LuAffiliated withInstitute of Medical Informatics and Statistics, Christian-Albrechts-University
  • , Manfred KayserAffiliated withMax-Planck-Institute for Evolutionary AnthropologyDepartment of Forensic Molecular Biology, Erasmus University
  • , Rüdiger LessigAffiliated withInstitute of Legal Medicine, University of Leipzig
  • , Peter de KnijffAffiliated withForensic Laboratory for DNA Research, Leiden University
  • , Mark A. JoblingAffiliated withDepartment of Genetics, University of Leicester
  • , Chris Tyler-SmithAffiliated withThe Wellcome Trust Sanger Institute
    • , Michael KrawczakAffiliated withInstitute of Medical Informatics and Statistics, Christian-Albrechts-University Email author 

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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.