Abstract
Adherents to the Jewish faith have resided in numerous geographic locations over the course of three millennia. Progressively more detailed population genetic analysis carried out independently by multiple research groups over the past two decades has revealed a pattern for the population genetic architecture of contemporary Jews descendant from globally dispersed Diaspora communities. This pattern is consistent with a major, but variable component of shared Near East ancestry, together with variable degrees of admixture and introgression from the corresponding host Diaspora populations. By combining analysis of monoallelic markers with recent genome-wide variation analysis of simple tandem repeats, copy number variations, and single-nucleotide polymorphisms at high density, it has been possible to determine the relative contribution of sex-specific migration and introgression to map founder events and to suggest demographic histories corresponding to western and eastern Diaspora migrations, as well as subsequent microevolutionary events. These patterns have been congruous with the inferences of many, but not of all historians using more traditional tools such as archeology, archival records, linguistics, comparative analysis of religious narrative, liturgy and practices. Importantly, the population genetic architecture of Jews helps to explain the observed patterns of health and disease-relevant mutations and phenotypes which continue to be carefully studied and catalogued, and represent an important resource for human medical genetics research. The current review attempts to provide a succinct update of the more recent developments in a historical and human health context.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-012-1235-6) contains supplementary material, which is available to authorized users.
Highlights
Since their emergence as a national and religious group in the Middle East over 2,000 years ago (Biran and Naveh 1993), Jews have maintained continuous cultural and religious traditions amid a series of Diasporas (Ben-Sasson 1976)
More detailed population genetic analysis carried out independently by multiple research groups over the past two decades has revealed a pattern for the population genetic architecture of contemporary Jews descendant from globally dispersed Diaspora communities
Albert Einstein captured this uncertainty when he wrote to the Berlin rabbis in 1921 ‘‘I notice that the word Jew is ambiguous in that it refers (1) to nationality and origin, (2) to the faith’’ (Einstein et al 1987)
Summary
Since their emergence as a national and religious group in the Middle East over 2,000 years ago (Biran and Naveh 1993), Jews have maintained continuous cultural and religious traditions amid a series of Diasporas (Ben-Sasson 1976). Population genetics has been enhanced by the identification of millions of polymorphic markers that reside in close proximity to one another along the genome and that vary in their allele frequencies among populations These discoveries have led to greater precision for estimates of genetic distances. Genetic analyses of diseases have continued in Jewish populations These have included diseases with a clear Mendelian basis, rare syndromes often identified first in a single family, common conditions that are more prevalent in Jewish populations, and common conditions for which the complexity might be simplified by studying Jewish populations. Interest in studying these disorders has accelerated with the advent of genomic sequence-based personalized medicine research (Ostrer 2011). We provide a description of the population genetics of the Jewish people based on these recent discoveries and a progress report on the genetic basis of diseases
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