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

Doron M. Behar, Michael F. Hammer, Daniel Garrigan, Richard Villems, Batsheva Bonne-Tamir, Martin Richards, David Gurwitz, Dror Rosengarten, Matthew Kaplan, Sergio Della Pergola, Lluis Quintana-Murci, Karl Skorecki

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Abstract

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 compared with those of five Near Eastern (n = 327) and 10 host European (n=849) non-Jewish populations. Only four mtDNA haplogroups (Hgs) (defined on the basis of diagnostic coding region RFLPs and HVS-1 sequence variants) account for ∼70% of Ashkenazi mtDNA variation. While several Ashkenazi Jewish mtDNA Hgs appear to derive from the Near East, there is also evidence for a low level of introgression from host European non-Jewish populations. HVS-1 sequence analysis revealed increased frequencies of Ashkenazi Jewish haplotypes that are rare or absent in other populations, and a reduced number of singletons in the Ashkenazi Jewish sample. These diversity patterns provide evidence for a prolonged period of low effective size in the history of the Ashkenazi population. The data best fit a model of an early bottleneck (∼ 100 generations ago), perhaps corresponding to initial migrations of ancestral Ashkenazim in the Near East or to Europe. A genetic bottleneck followed by the recent phenomenon of rapid population growth are likely to have produced the conditions that led to the high frequency of many genetic disease alleles in the Ashkenazi population.

LanguageEnglish
Pages355-364
Number of pages10
JournalEuropean Journal of Human Genetics
Volume12
Issue number5
Early online date14 Jan 2004
DOIs
Publication statusPublished - May 2004

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History
Mitochondrial DNA
Population
Middle East
Alleles
Genetic Drift
Jews
Inborn Genetic Diseases
Genetic Selection
Population Growth
Restriction Fragment Length Polymorphisms
Haplotypes
Sequence Analysis
Mothers

Cite this

Behar, Doron M. ; Hammer, Michael F. ; Garrigan, Daniel ; Villems, Richard ; Bonne-Tamir, Batsheva ; Richards, Martin ; Gurwitz, David ; Rosengarten, Dror ; Kaplan, Matthew ; Della Pergola, Sergio ; Quintana-Murci, Lluis ; Skorecki, Karl. / MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population. In: European Journal of Human Genetics. 2004 ; Vol. 12, No. 5. pp. 355-364.
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Behar, DM, Hammer, MF, Garrigan, D, Villems, R, Bonne-Tamir, B, Richards, M, Gurwitz, D, Rosengarten, D, Kaplan, M, Della Pergola, S, Quintana-Murci, L & Skorecki, K 2004, 'MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population', European Journal of Human Genetics, vol. 12, no. 5, pp. 355-364. https://doi.org/10.1038/sj.ejhg.5201156

MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population. / Behar, Doron M.; Hammer, Michael F.; Garrigan, Daniel; Villems, Richard; Bonne-Tamir, Batsheva; Richards, Martin; Gurwitz, David; Rosengarten, Dror; Kaplan, Matthew; Della Pergola, Sergio; Quintana-Murci, Lluis; Skorecki, Karl.

In: European Journal of Human Genetics, Vol. 12, No. 5, 05.2004, p. 355-364.

Research output: Contribution to journalArticle

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AU - Behar, Doron M.

AU - Hammer, Michael F.

AU - Garrigan, Daniel

AU - Villems, Richard

AU - Bonne-Tamir, Batsheva

AU - Richards, Martin

AU - Gurwitz, David

AU - Rosengarten, Dror

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AU - Quintana-Murci, Lluis

AU - Skorecki, Karl

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N2 - 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 compared with those of five Near Eastern (n = 327) and 10 host European (n=849) non-Jewish populations. Only four mtDNA haplogroups (Hgs) (defined on the basis of diagnostic coding region RFLPs and HVS-1 sequence variants) account for ∼70% of Ashkenazi mtDNA variation. While several Ashkenazi Jewish mtDNA Hgs appear to derive from the Near East, there is also evidence for a low level of introgression from host European non-Jewish populations. HVS-1 sequence analysis revealed increased frequencies of Ashkenazi Jewish haplotypes that are rare or absent in other populations, and a reduced number of singletons in the Ashkenazi Jewish sample. These diversity patterns provide evidence for a prolonged period of low effective size in the history of the Ashkenazi population. The data best fit a model of an early bottleneck (∼ 100 generations ago), perhaps corresponding to initial migrations of ancestral Ashkenazim in the Near East or to Europe. A genetic bottleneck followed by the recent phenomenon of rapid population growth are likely to have produced the conditions that led to the high frequency of many genetic disease alleles in the Ashkenazi population.

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