https://www.cell.com/current-biology/fulltext/S0960-9822(22)01355-0
Genomes from a medieval mass burial show Ashkenazi-associated hereditary diseases pre-date the 12th century
Selina Brace 11
Yoan Diekmann 11
Thomas Booth 11
Ruairidh Macleod 11
Adrian Timpson
Will Stephen
Giles Emery
Sophie Cabot
Mark G. Thomas 9, 10
Ian Barnes 12
Open Access
Published:August 30, 2022
DOI:https://doi.org/10.1016/j.cub.2022.08.036
Highlights
•
Medieval English human remains are source for earliest Jewish genomes
•
Population continuity between 12th century and modern Ashkenazi Jews
•
Four alleles associated with genetic disorders in Ashkenazi Jews observed
•
Founder event elevating Jewish genetic disorder frequencies predates 12th century
Summary
We report genome sequence data from six individuals excavated from the base of a medieval well at a site in Norwich, UK. A revised radiocarbon analysis of the assemblage is consistent with these individuals being part of a historically attested episode of antisemitic violence on 6 February 1190 CE. We find that four of these individuals were closely related and all six have strong genetic affinities with modern Ashkenazi Jews. We identify four alleles associated with genetic disease in Ashkenazi Jewish populations and infer variation in pigmentation traits, including the presence of red hair. Simulations indicate that Ashkenazi-associated genetic disease alleles were already at appreciable frequencies, centuries earlier than previously hypothesized. These findings provide new insights into a significant historical crime, into Ashkenazi population history, and into the origins of genetic diseases associated with modern Jewish populations.
We inferred ancestry proportions for modern Ashkenazi with qpAdm,36 with Chapelfield, Turkish Jews, Sicilian, French, and Polish as potential sources, and found the best model to be one of 100% Chapelfield (p = 0.65; Data S1I; by convention values below 0.01 indicate a poor fit). We also modeled Chapelfield ancestry as a mixture of modern populations, which we use as proxies for hypothesized ancestry components: Turkish Jews, Sicilian, French, and Polish. We estimate a mixture of ∼33%, ∼67%, ∼0%, and ∼0%, respectively (p = 0.88). These results are consistent with a previous demographic model,37 which places the introgression of Eastern European ancestry after the date of these individuals.
Uniparental haplogroup calls for all Chapelfield individuals also support genetic affinities to the Near East and in some cases to Ashkenazi Jewish populations (Method details: Sex and uniparental haplogroups). Specifically, Ashkenazi Jews form the majority of modern carriers for mitochondrial haplogroup H5c2,39,40,41 in particular the back mutation at 16304, observed in the three sisters SB605, SB606, and SB671 (Table S3). The Y chromosome haplotype of SB676 (E1b1b1b2a1b1a) is within haplogroup E-M34, which is common in semitic language speakers and has a frequency of 11.7% among Ashkenazim for the parent haplogroup E-M12332. Similarly, the parent subclades of SB604 (J1a2a1a2d2b2) and SB696 (T1a1a) are particularly associated with Levantine ancestry.42,43
Genomes from a medieval mass burial show Ashkenazi-associated hereditary diseases pre-date the 12th century
Selina Brace 11
Yoan Diekmann 11
Thomas Booth 11
Ruairidh Macleod 11
Adrian Timpson
Will Stephen
Giles Emery
Sophie Cabot
Mark G. Thomas 9, 10
Ian Barnes 12
Open Access
Published:August 30, 2022
DOI:https://doi.org/10.1016/j.cub.2022.08.036
Highlights
•
Medieval English human remains are source for earliest Jewish genomes
•
Population continuity between 12th century and modern Ashkenazi Jews
•
Four alleles associated with genetic disorders in Ashkenazi Jews observed
•
Founder event elevating Jewish genetic disorder frequencies predates 12th century
Summary
We report genome sequence data from six individuals excavated from the base of a medieval well at a site in Norwich, UK. A revised radiocarbon analysis of the assemblage is consistent with these individuals being part of a historically attested episode of antisemitic violence on 6 February 1190 CE. We find that four of these individuals were closely related and all six have strong genetic affinities with modern Ashkenazi Jews. We identify four alleles associated with genetic disease in Ashkenazi Jewish populations and infer variation in pigmentation traits, including the presence of red hair. Simulations indicate that Ashkenazi-associated genetic disease alleles were already at appreciable frequencies, centuries earlier than previously hypothesized. These findings provide new insights into a significant historical crime, into Ashkenazi population history, and into the origins of genetic diseases associated with modern Jewish populations.
We inferred ancestry proportions for modern Ashkenazi with qpAdm,36 with Chapelfield, Turkish Jews, Sicilian, French, and Polish as potential sources, and found the best model to be one of 100% Chapelfield (p = 0.65; Data S1I; by convention values below 0.01 indicate a poor fit). We also modeled Chapelfield ancestry as a mixture of modern populations, which we use as proxies for hypothesized ancestry components: Turkish Jews, Sicilian, French, and Polish. We estimate a mixture of ∼33%, ∼67%, ∼0%, and ∼0%, respectively (p = 0.88). These results are consistent with a previous demographic model,37 which places the introgression of Eastern European ancestry after the date of these individuals.
Uniparental haplogroup calls for all Chapelfield individuals also support genetic affinities to the Near East and in some cases to Ashkenazi Jewish populations (Method details: Sex and uniparental haplogroups). Specifically, Ashkenazi Jews form the majority of modern carriers for mitochondrial haplogroup H5c2,39,40,41 in particular the back mutation at 16304, observed in the three sisters SB605, SB606, and SB671 (Table S3). The Y chromosome haplotype of SB676 (E1b1b1b2a1b1a) is within haplogroup E-M34, which is common in semitic language speakers and has a frequency of 11.7% among Ashkenazim for the parent haplogroup E-M12332. Similarly, the parent subclades of SB604 (J1a2a1a2d2b2) and SB696 (T1a1a) are particularly associated with Levantine ancestry.42,43