MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population

@article{Behar2004MtDNAEF,
  title={MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population},
  author={Doron M Behar and Michael F. Hammer and Daniel Garrigan and Richard Villems and Batsheva Bonn{\'e}‐Tamir and Martin B. Richards and David Gurwitz and Dror Rosengarten and Matthew E. Kaplan and Sergio Della Pergola and Llu{\'i}s Quintana-Murci and Karl Skorecki},
  journal={European Journal of Human Genetics},
  year={2004},
  volume={12},
  pages={355-364}
}
The relative roles of natural selection and accentuated genetic drift as explanations for the high frequency of more than 20 Ashkenazi Jewish disease alleles remain controversial. To test for the effects of a maternal bottleneck on the Ashkenazi Jewish population, we performed an extensive analysis of mitochondrial DNA (mtDNA) hypervariable segment 1 (HVS-1) sequence and restriction site polymorphisms in 565 Ashkenazi Jews from different parts of Europe. These patterns of variation were… 
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Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations

It is striking that whereas Ashkenazi populations are genetically more diverse at both the SNP and STR level compared with their European non-Jewish counterparts, they have greatly reduced within-haplogroup STR variability, especially in those founder haplogroups that migrated from the Near East.

Mitochondrial DNA sequence variation in Jewish populations

When the data were compared with the autosomal and Y-chromosome markers previously studied in these populations, sex-specific differences could be observed in the Jewish populations.

Genetic differentiation of Jewish populations.

It is suggested that a major contributing factor to the genetic divergence between Jewish groups may have been admixture with local host populations, while, at the same time, threads of Eastern Mediterranean ancestry remain evident.

A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages

It is shown that all four major founders of Ashkenazi mtDNA variation have ancestry in prehistoric Europe, rather than the Near East or Caucasus, and most of the remaining minor founders share a similar deep European ancestry.

High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium.

A large fraction of the maternal ancestry of modern Europeans traces back to the expansion of hunter-gatherer populations at the end of the last Ice Age, as shown by the patterns of frequency and diversity of haplogroup H.

Ashkenazi Jewish mtDNA haplogroup distribution varies among distinct subpopulations: lessons of population substructure in a closed group

Evidence for significant geographic substructure of the maternal lineage represented by mitochondrial DNA variation in one of the most commonly studied populations, the Ashkenazi Jews, is shown.

Tracking the genetic imprints of lost Jewish tribes among the gene pool of Kuki-Chin-Mizo population of India

Migration of the lost tribes through China resulting in subsequent genetic admixture over a long period of time has probably diluted the extant gene pool of the Kuki-Chin-Mizo population.

Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi Levites

The analysis of 16 whole R1 sequences shows that a set of 19 unique nucleotide substitutions defines the Ashkenazi R1a lineage, indicative of a geographic source of the Levite founder lineage in the Near East and its likely presence among pre-Diaspora Hebrews.

Counting the Founders: The Matrilineal Genetic Ancestry of the Jewish Diaspora

The numerically major portion of the non-Ashkenazi Jews, currently estimated at 5 million people and comprised of the Moroccan, Iraqi, Iranian and Iberian Exile Jewish communities showed no evidence for a narrow founder effect, which did however characterize the smaller and more remote Belmonte, Indian and the two Caucasus communities.

Middle eastern genetic legacy in the paternal and maternal gene pools of Chuetas

The composition of their uniparentally transmitted lineages demonstrates a remarkable signature of Middle Eastern ancestry—despite some degree of host admixture—confirming Chuetas have retained over the centuries a considerable degree of ancestral genetic signature along with the cultural memory of their Jewish origin.
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