Abstract
We report genome-wide data from 33 Ashkenazi Jews (AJ), dated to the 14th century, obtained following a salvage excavation at the medieval Jewish cemetery of Erfurt, Germany. The Erfurt individuals are genetically similar to modern AJ, but they show more variability in Eastern European-related ancestry than modern AJ. A third of the Erfurt individuals carried a mitochondrial lineage common in modern AJ and eight carried pathogenic variants known to affect AJ today. These observations, together with high levels of runs of homozygosity, suggest that the Erfurt community had already experienced the major reduction in size that affected modern AJ. The Erfurt bottleneck was more severe, implying substructure in medieval AJ. Overall, our results suggest that the AJ founder event and the acquisition of the main sources of ancestry pre-dated the 14th century and highlight late medieval genetic heterogeneity no longer present in modern AJ.
| Original language | American English |
|---|---|
| Pages (from-to) | 4703-4716.e16 |
| Journal | Cell |
| Volume | 185 |
| Issue number | 25 |
| DOIs | |
| State | Published - 8 Dec 2022 |
Bibliographical note
Funding Information:We are thankful to Ephraim Shoham-Steiner for consultations when planning this study and to Rabbi Ze'ev Litke, who undertook a ruling on contexts in which ancient DNA studies could be permissible. We thank the Jewish community of Thuringia for approving the study. We thank Douglas Kennett, Nick Patterson, Lily Agranat-Tamir, and Maria Stürzebecher for discussions; Shaul Stampfer, Sergio DellaPergola, and Itsik Pe'er for commenting on the manuscript; Kim Callan, Fatma Zalzala, Kristin Stewardson, Nicole Adamski, and Ann Marie Lawson for wet laboratory work; Rebecca Bernardos for sample management; and Iosif Lazaridis, Matthew Mah, Adam Micco, and Zhao Zhang for bioinformatics support. The study was funded by the Israel Science Foundation grant 407/17 and the United States–Israel Binational Science Foundation grant 2017024 to S.C. by the National Science Foundation (USA) grants 1912776 and 0922374 to V.R. by the MCIN/AEI/ 10.13039/501100011033 and by “ESF Investing in your future” grant “Ayudas para contratos Ramón y Cajal” to I.O. and by the following grants to D.R.: NIH grants GM100233 and HG012287; the Allen Discovery Center program, a Paul G. Allen Frontiers Group advised program of the Paul G. Allen Family Foundation; John Templeton Foundation grant 61220; a private gift from Jean-François Clin; and the Howard Hughes Medical Institute. This article is subject to HHMI's Open Access to Publications policy. HHMI lab heads have previously granted a nonexclusive CC BY 4.0 license to the public and a sublicensable license to HHMI in their research articles. Pursuant to those licenses, the author-accepted manuscript of this article can be made freely available under a CC BY 4.0 license immediately upon publication. S.C. and D.R. conceived, designed, and supervised the study. K.S. performed the archaeological excavation. S.F. performed the physical anthropology analyses. D.B. and J.C.N. performed the mitochondrial DNA analysis. N.C.N. G.M.B. K.M.P. and V.R. performed the isotope analyses. M.L. provided details on the history of the Erfurt community. L.V.R. A.B. L.C. A.L. and J.L. provided historical context on Jewish origins. N.R. supervised the laboratory experiments. S.M. supervised the bioinformatics analyses. I.O. performed the relatedness analysis. A.A. performed imputation using GLIMPSE. É.H. performed the pathogen DNA analysis. H.R. detected runs of homozygosity. H.F. provided information on carrier screening. L.C. A.L. and J.L. inferred refined uniparental lineages. S.W. performed all other data analyses. H.O. N.B. G.A. I.P. and T.L. provided the Ashkenazi genomic reference data. J.Y. performed quality control on the reference data. Y.E.M. provided input on the mtDNA analysis. S.S. provided input on the population genetic analyses. S.W. and S.C. drafted the manuscript with input from other authors and revised it together with D.R; H.R. H.O. T.L. L.V.R. and S.S. provided feedback on the manuscript. S.C. is a paid consultant and holds stock options at MyHeritage. D.B. is an employee and shareholder at The Janssen Pharmaceutical Companies of Johnson & Johnson. É.H. is an employee of 23andMe.
Funding Information:
We are thankful to Ephraim Shoham-Steiner for consultations when planning this study and to Rabbi Ze’ev Litke, who undertook a ruling on contexts in which ancient DNA studies could be permissible. We thank the Jewish community of Thuringia for approving the study. We thank Douglas Kennett, Nick Patterson, Lily Agranat-Tamir, and Maria Stürzebecher for discussions; Shaul Stampfer, Sergio DellaPergola, and Itsik Pe’er for commenting on the manuscript; Kim Callan, Fatma Zalzala, Kristin Stewardson, Nicole Adamski, and Ann Marie Lawson for wet laboratory work; Rebecca Bernardos for sample management; and Iosif Lazaridis, Matthew Mah, Adam Micco, and Zhao Zhang for bioinformatics support. The study was funded by the Israel Science Foundation grant 407/17 and the United States–Israel Binational Science Foundation grant 2017024 to S.C., by the National Science Foundation (USA) grants 1912776 and 0922374 to V.R., by the MCIN/AEI / 10.13039/501100011033 and by “ ESF Investing in your future ” grant “Ayudas para contratos Ramón y Cajal” to I.O., and by the following grants to D.R.: NIH grants GM100233 and HG012287 ; the Allen Discovery Center program , a Paul G. Allen Frontiers Group advised program of the Paul G. Allen Family Foundation ; John Templeton Foundation grant 61220 ; a private gift from Jean-François Clin ; and the Howard Hughes Medical Institute .
Publisher Copyright:
© 2022 The Authors
Keywords
- Ashkenazi Jews
- IBD sharing
- admixture
- ancient DNA
- demographic inference
- founder event
- mitochondrial DNA
- pathogenic variants
- population structure
- runs of homozygosity