1Research ArticleThe Missing Link of Jewish European Ancestry: Contrasting the Rhineland and the KhazarianHypothesesEran Elhaik
Department of Mental Health, Johns Hopkins University Bloomberg School of Public Health,Baltimore, MD, USA, 21208.
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA, 21208.Running head: The Missing Link of Jewish European AncestryKeywords: Jewish genome, Khazars, Rhineland, Ashkenazi Jews, population isolate, EasternEuropean Jews, Central European Jews, Population structure,Please address all correspondence to Eran Elhaik firstname.lastname@example.org Phone: 410-502-5740. Fax: 410-502-7544.
© The Author(s) 2012. Published by Oxford University Press on behalf of the Society forMolecular Biology and Evolution.This is an Open Access article distributed under the terms of the Creative Commons AttributionNon-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permitsunrestricted non-commercial use, distribution, and reproduction in any medium, provided theoriginal work is properly cited.
The question of Jewish ancestry has been the subject of controversy for over two centuries andhas yet to be resolved. The “Rhineland Hypothesis” depicts Eastern European Jews as a“population isolate” that emerged from a small group of German Jews who migrated eastwardand expanded rapidly. Alternatively, the “Khazarian Hypothesis” suggests that Eastern EuropeanJew descended from the Khazars, an amalgam of Turkic clans that settled the Caucasus in theearly centuries CE and converted to Judaism in the 8
century. Mesopotamian and Greco-RomanJews continuously reinforced the Judaized Empire until the 13
century. Following the collapseof their empire, the Judeo-Khazars fled to Eastern Europe. The rise of European Jewry istherefore explained by the contribution of the Judeo-Khazars. Thus far, however, the Khazar’scontribution has been estimated only empirically, as the absence of genome-wide data fromCaucasus populations precluded testing the Khazarian Hypothesis. Recent sequencing of modernCaucasus populations prompted us to revisit the Khazarian Hypothesis and compare it with theRhineland Hypothesis. We applied a wide range of population genetic analyses to compare thesetwo hypotheses. Our findings support the Khazarian Hypothesis and portray the European Jewishgenome as a mosaic of Caucasus, European, and Semitic ancestries, thereby consolidating previous contradictory reports of Jewish ancestry. We further describe major difference amongCaucasus populations explained by early presence of Judeans in the Southern and CentralCaucasus. Our results have important implications on the demographic forces that shaped thegenetic diversity in the Caucasus and medical studies.