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

  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},
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… 

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.



Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes.

The hypothesis that the paternal gene pools of Jewish communities from Europe, North Africa, and the Middle East descended from a common Middle Eastern ancestral population is supported, and most Jewish communities have remained relatively isolated from neighboring non-Jewish communities during and after the Diaspora is suggested.

Mitochondrial DNA analysis reveals diverse histories of tribal populations from India

Analysis of the first hypervariable region of the mitochondrial DNA (mtDNA) control region in 752 individuals from 17 tribal and four nontribal groups from the Indian subcontinent suggested that caste and tribal groups are genetically similar with respect to mtDNA variation.

The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs.

It is shown that the main indigenous North African cluster is a sister group to the most ancient cluster of European mtDNAs, from which it diverged approximately 50,000 years ago.

A human population bottleneck can account for the discordance between patterns of mitochondrial versus nuclear DNA variation.

  • J. FayC. Wu
  • Biology
    Molecular biology and evolution
  • 1999
In humans, mitochondrial variation is characterized by an excess of rare frequency mutations and a negative D value, which has been interpreted as the result of a recent expansion in population size, and most nuclear loci are characterized by the opposite pattern.

Why hunter-gatherer populations do not show signs of pleistocene demographic expansions.

  • L. ExcoffierS. Schneider
  • Environmental Science
    Proceedings of the National Academy of Sciences of the United States of America
  • 1999
A multivariate analysis of the genetic distances among 61 populations reveals that populations that did not undergo demographic expansions show increased genetic distances from other populations, confirming that the demography of the populations strongly affects observed genetic affinities.

The Y chromosome pool of Jews as part of the genetic landscape of the Middle East.

The investigation of the genetic relationship among three Jewish communities revealed that Kurdish and Sephardic Jews were indistinguishable from one another, whereas both differed slightly, yet significantly, from Ashkenazi Jews.

Tracing European founder lineages in the Near Eastern mtDNA pool.

Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors.

The results suggest that most Jewish communities were founded by relatively few women, that the founding process was independent in different geographic areas, and that subsequent genetic input from surrounding populations was limited on the female side.

The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim.

It is concluded that the 185delAG BRCA1 mutation occurs in some non-Ashkenazi populations at rates comparable with that of Ashkenazim, supporting the founder effect notion, but dating the mutation's origin to an earlier date than currently estimated.

Extensive mitochondrial diversity within a single Amerindian tribe.

Data do not support the concept of a dramatic founder effect during the peopling of the Americas and suggest that a single Amerindian tribe can contain such extensive molecular diversity, it is unnecessary to presume that substantial genetic bottlenecks occurred during the formation of contemporary ethnic groups.