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

Cell. 2022 Dec 8;185(25):4703-4716.e16. doi: 10.1016/j.cell.2022.11.002. Epub 2022 Nov 30.

Authors

Shamam Waldman¹, Daniel Backenroth¹, Éadaoin Harney², Stefan Flohr³, Nadia C Neff⁴, Gina M Buckley⁵, Hila Fridman⁶, Ali Akbari⁷, Nadin Rohland⁸, Swapan Mallick⁹, Iñigo Olalde¹⁰, Leo Cooper¹¹, Ariel Lomes¹, Joshua Lipson¹², Jorge Cano Nistal¹³, Jin Yu¹⁴, Nir Barzilai¹⁵, Inga Peter¹⁶, Gil Atzmon¹⁷, Harry Ostrer¹⁸, Todd Lencz¹⁹, Yosef E Maruvka¹³, Maike Lämmerhirt²⁰, Alexander Beider²¹, Leonard V Rutgers²², Virginie Renson⁵, Keith M Prufer⁴, Stephan Schiffels²³, Harald Ringbauer²⁴, Karin Sczech²⁵, Shai Carmi²⁶, David Reich²⁷

Affiliations

¹ Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.
² Department of Human Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.
³ Department of Biology, University of Hildesheim, 31141 Hildesheim, Germany.
⁴ Department Anthropology, University of New Mexico, Albuquerque, NM 87131, USA; Center for Stable Isotopes, University of New Mexico, Albuquerque, NM 87106, USA.
⁵ Research Reactor Center, University of Missouri, Columbia, MO 65211, USA.
⁶ Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 9103102, Israel; Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112001, Israel.
⁷ Department of Human Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
⁸ Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
⁹ Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA.
¹⁰ Department of Human Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA; Department of Zoology and Animal Cell Biology, University of the Basque Country UPV/EHU, 01006 Vitoria-Gasteiz, Spain; Ikerbasque-Basque Foundation of Science, 48009 Bilbao, Spain.
¹¹ Independent Scholar, Kalamazoo, MI 49008, USA.
¹² Independent Scholar, New York, NY 10027, USA.
¹³ Faculty of Biotechnology and Food Engineering, Technion - Israel Institute of Technology, Haifa 3200003, Israel.
¹⁴ Department of Psychiatry, Division of Research, The Zucker Hillside Hospital Division of Northwell Health, Glen Oaks, NY 11004, USA.
¹⁵ Departments of Medicine and Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
¹⁶ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
¹⁷ Departments of Medicine and Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA; Faculty of Natural Sciences, University of Haifa, Haifa 3498838, Israel.
¹⁸ Department of Pathology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
¹⁹ Department of Psychiatry, Division of Research, The Zucker Hillside Hospital Division of Northwell Health, Glen Oaks, NY 11004, USA; Departments of Psychiatry and Molecular Medicine, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11550, USA; Institute for Behavioral Science, The Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA.
²⁰ Department of Medieval History, University of Erfurt, 99089 Erfurt, Germany.
²¹ Independent Scholar, 92370 Chaville, France.
²² Department of History and Art History, Utrecht University, Utrecht 3512 BS, the Netherlands.
²³ Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.
²⁴ Department of Human Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.
²⁵ World Heritage Coordinator, City of Erfurt, 99084 Erfurt, Germany.
²⁶ Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel. Electronic address: shai.carmi@huji.ac.il.
²⁷ Department of Human Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA. Electronic address: reich@genetics.med.harvard.edu.

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.

Keywords: Ashkenazi Jews; IBD sharing; admixture; ancient DNA; demographic inference; founder event; mitochondrial DNA; pathogenic variants; population structure; runs of homozygosity.

MeSH terms

Genetics, Population
Genome, Human
Humans
Jews* / genetics
White People*

Abstract

MeSH terms

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