Two Sources of the Russian Patrilineal Heritagein Their Eurasian Context
and Richard Villems
Progress in the mapping of population genetic substructure provides a core source of data for the reconstruction of the demographichistory ofourspeciesandforthediscoveryofcommonsignalsrelevanttodiseaseresearch:Thesetwoaspectsofenquiryoverlapintheirempirical data content and are especially informative at continental and subcontinental levels. In the present study of the variation of the Y chromosome pool of ethnic Russians, we show that the patrilineages within the pre-Ivan the Terrible historic borders of Russiahave two main distinct sources. One of these antedates the linguistic split between West and East Slavonic-speaking people and is com-mon for the two groups; the other is genetically highlighted by the pre-eminence of haplogroup (hg) N3 and is most parsimoniouslyexplained by extensive assimilation of (or languagechange in)northeasternindigenousFinno-Ugric tribes. AlthoughhgN3 is commonfor both East European and Siberian Y chromosomes, other typically Siberian or Mongolian hgs (Q and C) have negligible inﬂuencewithin the studied Russian Y chromosome pool. The distribution of all frequent Y chromosome haplogroups (which account for95% of the Y chromosomal spectrum in Russians) follows a similar north-south clinal pattern among autosomal markers, apparentfrom synthetic maps. Multidimensional scaling (MDS) plots comparing intra ethnic and interethnic variation of Y chromosomein Europe show that although well detectable, intraethnic variation signals do not cross interethnic borders, except between Poles,Ukrainians, and central-southern Russians, thereby revealing their overwhelmingly shared patrilineal ancestry.
The haploid Y chromosome is one of the most variablegenetic systems in humans, and its phylogeny
and phy-logeography are increasingly better understood, therebyallowing inferences to be made about its variation in spaceand time, as well as synthesis of the emerging picture withthose arising from matrilineal mtDNA phylogeny and au-tosomal portion of the human genome.
Yet the geneticsampling of Europe has so far been heavily focused onthe western parts of the subcontinent, and often onlya few sampling spots for an ethnic group is considered torepresent the variation in multimillion population of alarge territory.The ﬁrst broad studies of the variation of the patrilin-eal genetic system in Europe
immediately revealed itsmarked phylogeographic differentiation. These two pio-neering papers and subsequent studies
have shownthat western Europeans carry predominantly haplogroupR1b, whereas eastern Europeans have high frequency of R1a lineages, that southern Slavs are characterized byhigh frequency of I1b, whereas Scandinavia is enrichedwith I1a, and that haplogroups J2 and E3b are conﬁnedmainly to southern Europe. In more general terms, it hasbeen concluded that geography, rather than language,explains the observed clinal distribution of NRY variationin Europe.
Ethnicity typically emphasizes linguistic, cultural, andoften religious, as well as political, aspects ascribed tohuman groups
and might be differently interpreted invarious research ﬁelds and scholarly traditions. Here, theterm is used in a more stringent meaning, combining lin-guistic identity with historical background of the popula-tion, including its territorial identity and biogeographicancestry.Studies dedicated to Y chromosomal intraethnic varia-tion in Europe and its neighborhood are so far limited.Kayser et al.
analyzed Polish and German populationsand found that genetic boundaries coincide with the po-litical boundary between Poles and Germans. Cinnio
studied patterns in the geographic distributionof the Y chromosome haplogroups within Turkey.Malyarchuk et al.
investigated differences among south-ern and central Russian populations, whereas Karlssonet al.,
Luca et al.,
and Kasperaviciute et al.
examinedvariation within Sweden, Czech Republic, and Lithuania,respectively.Unfortunately,someotherlargesubcontinen-tal areas in Europe are not studied yet in respect to intra-ethnic (deﬁned primarily by language and political-bordercriteria) variation of their Y chromosome pools.East Europe, in particular its southern steppe belt butalsothemorenorthernforestzone,havebeen,throughoutmillennia,acrossroadformanypopulationsclaimingtheirorigin from a vast area stretching from central Europeto the borders of China. Although much of East Europewas inhabited by anatomically modern humans long be-fore the Last Glacial Maximum approximately 20,000years ago,
and the Neolithic offers increasingly rich
Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia;
Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, 51010Tartu, Estonia;
Leverhulme Centre forHuman Evolutionary Studies, University ofCambridge,Cambridge, CB2 1QH,UK;
NorthernState MedicalUniversity,163001 Arkhangel,Russia;
KubanMedicalAcademy, 350063Krasnodar, Russia;
Institute of Immunology, FMBA of Russia, 115478 Moscow, Russia;
Vavilov Institute of General Genetics, 119991 Moscow, Russia*Correspondence:firstname.lastname@example.orgDOI 10.1016/j.ajhg.2007.09.019.
2008 by The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics
, 236–250, January 2008