The matrilineal ancestry of Ashkenazi Jewry: Portrait of a recent founder event

Doron M. Behar, Ene Metspalu, Toomas Kivisild, Alessandro Achilli, Yarin Hadid, Shay Tzur, Luisa Pereira, Antonio Amorim, Lluis Quintana-Murci, Kari Majamaa, Corinna Herrnstadt, Neil Howell, Oleg Balanovsky, Ildus Kutuev, Andrey Pshenichnov, David Gurwitz, Batsheva Bonne-Tamir, Antonio Torroni, Richard Villems, Karl Skorecki

Research output: Contribution to journalArticlepeer-review

124 Scopus citations


Both the extent and location of the maternal ancestral deme from which the Ashkenazi Jewry arose remain obscure. Here, using complete sequences of the maternally inherited mitochondrial DNA (mtDNA), we show that close to one-half of Ashkenazi Jews, estimated at 8,000,000 people, can be traced back to only 4 women carrying distinct mtDNAs that are virtually absent in other populations, with the important exception of low frequencies among non-Ashkenazi Jews. We conclude that four founding mtDNAs, likely of Near Eastern ancestry, underwent major expansion(s) in Europe within the past millennium.

Original languageEnglish
Pages (from-to)487-497
Number of pages11
JournalAmerican Journal of Human Genetics
Issue number3
StatePublished - Mar 2006
Externally publishedYes

Bibliographical note

Funding Information:
We thank the individuals who provided samples for this study, the National Laboratory for the Genetics of Israeli Populations, which also provided samples, and Vered Friedman and Guennady Yudkovsky for technical assistance. This research was supported in part by Israeli Science Foundation grants (to K.S.), the Annie Chutick Endowment and Technion (to K.S.), the Estonian Science Foundation (to E.M. and T.K.), European Union Framework Programme Genemill and Genera grants (to R.V.), the Consiglio Nazionale della Ricerche–Ministro dell'Istruzione dell'Univerita e della Ricerca (CNR-MIUR) Genomica Funzionale-Legge 449/97 (to A.T.), the Fondo Investimenti Ricerca di Base 2001 (to A.T.), the Progetti Ricerca Interesse Nazionale 2005 (to A.T.), the National Science Foundation (to N.H.), and Programa Operacional Ciência, Tecnologia e Inovação (to A. Amorim).


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