Genomes from a medieval mass burial show Ashkenazi-associated hereditary diseases

[etrusco]

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

 

[kingjohn]

From anthrogenica user important note:
E1b1b1b2a1b1a is E-PF1952, which is xM34. Still, a well-known, relatively large Ashkenazi branch.
https://www.yfull.com/tree/E-PF1952/

P.s
It is still great find thanks
For sharing
By the way
The other 2 males are : j1 and T
I can only feel sorry for there brutal death:sadcry:

 

[real expert]

I can only feel sorry for there brutal death:sadcry:

I feel that way too.

In the archaeogenetic community, we are occupied with admixture tools, PCA and haplogroups, and whatnot. That we sometimes tend to forget that we're dealing with real people that sometimes had a gruesome fate, and died a horrendous death. Today, at least in the West, the world is a lot less violent than at any other time in history, or prehistory.

 

[Angela]

I've been meaning to respond to this.

The bottom line is that the population bottleneck which probably gave rise to the so-called "Ashkenazi disease risks" was the one "associated with the formation of Ashkenazim communities in northern Europe during the early medieval period."

The fact that the samples already possessed these disease alleles at the very beginning of the persecutions during the Crusader period in northern and central Europe, and that the Sephardi populations don't possess them would lead to that conclusion even without the extensive modeling. I never had much faith in the idea that the bottleneck occurred after the destruction of the Temple in 70 C.E. There were enough Jews left in Israel after 70 C.E. for two more revolts, not to mention all the Jews in Anatolia, the Greek lands, Egypt etc.

I think a lot of this had to do with inbreeding, as the analysis of the samples shows. It wasn't just low effective population size, although that's part of the story, but perhaps marriages for economic purposes. It's what happened in my father's villages to some extent. It's just the luck of the draw whether your founding population carried a lot of hereditary disorders, for whatever reason. The inbreeding must have continued and even intensified as the Jews moved to the east, because the drift is even more pronounced.

I found the ancestry analysis using modern populations very interesting as well.

"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).

I wonder at the choice of Turkish Jews as the "Middle Eastern" component. To the best of my knowledge Turkish Jews are a combination of Romaniote Balkan, Greek and Anatolian Jews, and Sephardi Jews exiled from Spain. As such, they're going to have a big component of "European" ancestry, which is, I believe, the reason that the Sicilian proportion is so high.

The only way this is ever going to be settled is to use older, Classical Era samples from the Middle East, including Anatolia, for the "Middle Eastern" component.

I'm rather disappointed in the paper, to be frank. It's a wasted opportunity. Why didn't they, especially, do an IBD analysis using these samples in comparison to the modern populations listed, but also to samples from other parts of Italy, to parts of Greece, and to ancient samples from those areas as well?

It doesn't make any sense to me.

 

[kingjohn]

The bam files are here:
https://www.ebi.ac.uk/ena/browser/view/Prjeb55223?show=reads
Maybe salento can do his magic
Will be interesting to see there k12b values

P.s
It is logical the norwich jews carry 0% east european admixture
If the modern eastern ashkenazi aquired this admixture when they moved east