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Regarding the N1a1a1a2 branch, the transitions at positions m. Lineages carrying the m. It has been proposed that haplogroup T, which diverged from the macro haplogroup JT around 40 kya, underwent a dramatic expansion from its geographical origin in the Near East into Europe before the Neolithic period. The additional motif m. Haplogroup T2e is spread throughout southern Europe and the Mediterranean, but is also found in Scandinavia, Egypt, the Near East and Arabia 64 and has been described as a founding lineage in the Bulgarian Sephardic community.

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Considering the growing number of complete mtDNA sequences available at this time, it was possible to define a new sub-haplogroup T2e1a1, based on m. It is important to notice that variants at position m.

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Position m. Considering a back-mutation at position m. Two other samples shared this same motif, one from Mexico and another one from Texas. Without m.

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All these samples are from the study of Bedford et al 31 and although the ethnicity of these three samples is not known, their Iberian ancestry seems consistent with a Sephardic origin. In conclusion, the back-mutation at position 41 inside this new sub-haplogroup T2e1a1 is entirely associated, so far, with Sephardic or probable Sephardic ancestry.

Inside the T2e1 branch, a new sub-haplogroup T2e1b Supplementary Figure 6 , defined by the presence of variant m. Except for two samples from mtDNA Community database, 67 without information concerning their ethnicity, all the remaining nine individuals are Jews, Sephardim or Ashkenazim.

The last putative Jewish Sephardic founding lineage belongs to haplogroup U2, particularly its European U2e sub-haplogroup. This lineage is extremely rare in modern European populations and was recently found in Late Neolithic 68 and Iron Age populations, especially in the north of Europe.

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The strong founder effect previously reported in the maternal lineages of Portuguese Jews from Belmonte 12 cannot be considered a general trait of the Sephardic groups in Portugal. In fact, NE communities, despite preserving a distinctive lineage profile, displayed diversity levels similar to the host population. Remarkably, for two of the founder lineages T2e1b and U2e1a , defined by the complete mitochondrial genome, the shared sequences belong to both Sephardic as well as Ashkenazi Jews.

Two possible scenarios could accommodate this finding: either the defining variants for each branch could have arisen before the separation between the two Jewish groups; or there may have been recent introgression of Sephardic lineages into Ashkenazim communities in the north of Europe. More complete sampling and complete sequences will contribute in the clarification of which one is more likely. In any case, it must be said that although not frequent, marriages between the two communities occurred especially in the sixteenth and seventeenth centuries, namely among the elite sugar traders, with the descendants assimilated into the Ashkenazi community.

The estimates of both the diversity levels and the number of female effective-population founders point at a stable size of the studied populations, in agreement with previous findings for the male counterparts. This gene flow seems to have been mutual as the maintenance of the observed diversity levels can only be explained by a number of founders that is higher than the Jewish families, which can still be traced today.

A study of recombinant markers is now required to unveil the reproductive strategies that have sustained this ancestral signature along with a moderate degree of admixture with the host population. Google Scholar. Lisboa: Vega, Leiden: Brill Paulo A : Os judeus secretos em Portugal. Fafe: Editorial Labirinto, Am J Hum Genet ; 83 : — Am J Hum Genet ; 80 : — PLoS One ; 3 : e Article Google Scholar. BMC Genet ; 10 : BMC Genet ; 9 : Ostrer H : A genetic profile of contemporary Jewish populations. Nat Rev ; 2 : — PLoS Genet ; 4 : e PLoS Genet ; 2 : e Hum Genet ; : — Am J Hum Genet ; 86 : — Nature ; : — Ann Hum Biol ; 33 : — Arch Dermatol ; : — Am J Phys Anthropol ; : — Int J Legal Med ; : — Hum Biol ; 73 : — J Phylogenetics Evol Biol ; 1 : Eur J Hum Genet ; 20 : — Electrophoresis ; 30 : — Electrophoresis ; 32 : — Nat Genet ; 23 : Hum Mutat ; 30 : E—E Forensic Sci Int Genet ; 1 : 88— Mol Ecol Resour ; 10 : — Ann Hum Genet ; 64 : — Forensic Sci Int Genet ; 7 : — PLoS One ; 8 : e IBM Corp.

Genetics ; : — Zhang C, Huang VH, Simon M et al : Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions. Am J Hum Genet ; 66 : — Am J Hum Genet ; 69 : — Heredity Edinb ; : 37— Nat Commun ; 4 : Science ; : — Am J Hum Genet ; 90 : — PLoS Biol ; 8 : e BMC Evol Biol ; 10 : Proc R Soc B ; : — PLoS One ; 7 : e Mol Ecol ; 21 : 45— Am J Hum Genet ; 78 : — Forensic Sci Int Genet ; 2 : e4—e6.

Lee EJ, Makarewicz C, Renneberg R et al : Emerging genetic patterns of the european neolithic: perspectives from a late neolithic bell beaker burial site in Germany. Coll Antropol ; 33 : — PubMed Google Scholar. Am J Hum Genet ; 74 : — Forensic Sci Int Genet ; 6 : e—e Roth C, Spivak A Historia de los marranos. Israel Lisboa, S Paulo, Download references.

We thank Walther Parson and Mannis van Oven for the helpful discussion and suggestions in the phylogenetic analysis, Doron Behar and Felice L Bedford for the additional information concerning Jewish samples. Lee didn't directly mention the sexual harassment allegations against her former partner, Gov. Andrew Cuomo.

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