Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century

Shamam Waldman; Daniel Backenroth; Éadaoin Harney; Stefan Flohr; Nadia C. Neff; Gina M. Buckley; Hila Fridman; Ali Akbari; Nadin Rohland; Swapan Mallick; Iñigo Olalde; Leo Cooper; Ariel Lomes; Joshua Lipson; Jorge Cano Nistal; Jin Yu; Nir Barzilai; Inga Peter; Gil Atzmon; Harry Ostrer; Todd Lencz; Yosef E. Maruvka; Maike Lämmerhirt; Alexander Beider; Leonard V. Rutgers; Virginie Renson; Keith M. Prufer; Stephan Schiffels; Harald Ringbauer; Karin Sczech; Shai Carmi; David Reich

doi:10.1016/j.cell.2022.11.002

Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14^th century

Shamam Waldman, Daniel Backenroth, Éadaoin Harney, Stefan Flohr, Nadia C. Neff, Gina M. Buckley, Hila Fridman, Ali Akbari, Nadin Rohland, Swapan Mallick, Iñigo Olalde, Leo Cooper, Ariel Lomes, Joshua Lipson, Jorge Cano Nistal, Jin Yu, Nir Barzilai, Inga Peter, Gil Atzmon, Harry OstrerTodd Lencz, Yosef E. Maruvka, Maike Lämmerhirt, Alexander Beider, Leonard V. Rutgers, Virginie Renson, Keith M. Prufer, Stephan Schiffels, Harald Ringbauer, Karin Sczech, Shai Carmi^*, David Reich^*

^*Corresponding author for this work

Department of Social Medicine

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

Abstract

We report genome-wide data from 33 Ashkenazi Jews (AJ), dated to the 14^th 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 14^th century and highlight late medieval genetic heterogeneity no longer present in modern AJ.

Original language	English
Pages (from-to)	4703-4716.e16
Journal	Cell
Volume	185
Issue number	25
DOIs	https://doi.org/10.1016/j.cell.2022.11.002
State	Published - 8 Dec 2022

Bibliographical note

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

Access to Document

10.1016/j.cell.2022.11.002

Cite this

Waldman, S., Backenroth, D., Harney, É., Flohr, S., Neff, N. C., Buckley, G. M., Fridman, H., Akbari, A., Rohland, N., Mallick, S., Olalde, I., Cooper, L., Lomes, A., Lipson, J., Cano Nistal, J., Yu, J., Barzilai, N., Peter, I., Atzmon, G., ... Reich, D. (2022). Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14^th century. Cell, 185(25), 4703-4716.e16. https://doi.org/10.1016/j.cell.2022.11.002

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title = "Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century",

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.",

keywords = "Ashkenazi Jews, IBD sharing, admixture, ancient DNA, demographic inference, founder event, mitochondrial DNA, pathogenic variants, population structure, runs of homozygosity",

author = "Shamam Waldman and Daniel Backenroth and {\'E}adaoin Harney and Stefan Flohr and Neff, {Nadia C.} and Buckley, {Gina M.} and Hila Fridman and Ali Akbari and Nadin Rohland and Swapan Mallick and I{\~n}igo Olalde and Leo Cooper and Ariel Lomes and Joshua Lipson and {Cano Nistal}, Jorge and Jin Yu and Nir Barzilai and Inga Peter and Gil Atzmon and Harry Ostrer and Todd Lencz and Maruvka, {Yosef E.} and Maike L{\"a}mmerhirt and Alexander Beider and Rutgers, {Leonard V.} and Virginie Renson and Prufer, {Keith M.} and Stephan Schiffels and Harald Ringbauer and Karin Sczech and Shai Carmi and David Reich",

note = "Publisher Copyright: {\textcopyright} 2022 The Authors",

year = "2022",

month = dec,

day = "8",

doi = "10.1016/j.cell.2022.11.002",

language = "אנגלית",

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Waldman, S, Backenroth, D, Harney, É, Flohr, S, Neff, NC, Buckley, GM, Fridman, H, Akbari, A, Rohland, N, Mallick, S, Olalde, I, Cooper, L, Lomes, A, Lipson, J, Cano Nistal, J, Yu, J, Barzilai, N, Peter, I, Atzmon, G, Ostrer, H, Lencz, T, Maruvka, YE, Lämmerhirt, M, Beider, A, Rutgers, LV, Renson, V, Prufer, KM, Schiffels, S, Ringbauer, H, Sczech, K, Carmi, S & Reich, D 2022, 'Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14^th century', Cell, vol. 185, no. 25, pp. 4703-4716.e16. https://doi.org/10.1016/j.cell.2022.11.002

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T1 - Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century

AU - Waldman, Shamam

AU - Backenroth, Daniel

AU - Harney, Éadaoin

AU - Flohr, Stefan

AU - Neff, Nadia C.

AU - Buckley, Gina M.

AU - Fridman, Hila

AU - Akbari, Ali

AU - Rohland, Nadin

AU - Mallick, Swapan

AU - Olalde, Iñigo

AU - Cooper, Leo

AU - Lomes, Ariel

AU - Lipson, Joshua

AU - Cano Nistal, Jorge

AU - Yu, Jin

AU - Barzilai, Nir

AU - Peter, Inga

AU - Atzmon, Gil

AU - Ostrer, Harry

AU - Lencz, Todd

AU - Maruvka, Yosef E.

AU - Lämmerhirt, Maike

AU - Beider, Alexander

AU - Rutgers, Leonard V.

AU - Renson, Virginie

AU - Prufer, Keith M.

AU - Schiffels, Stephan

AU - Ringbauer, Harald

AU - Sczech, Karin

AU - Carmi, Shai

AU - Reich, David

PY - 2022/12/8

Y1 - 2022/12/8

N2 - 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.

AB - 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.

KW - Ashkenazi Jews

KW - IBD sharing

KW - admixture

KW - ancient DNA

KW - demographic inference

KW - founder event

KW - mitochondrial DNA

KW - pathogenic variants

KW - population structure

KW - runs of homozygosity

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