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- Portuguese crypto-Jews: the genetic heritage of a complex history
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Portuguese crypto-Jews: the genetic heritage of a complex history
This lineage probably represents a relic of the original Sephardic male genetic pool, since it appears with similar frequencies in Israeli Sephardic Jews, but is quite rare in the Mediterranean coast and in Iberia. G-M was also detected in Belmonte 6. Adams et al. However, the estimated age for this lineage in Portugal Beleza et al. The authors studied mtDNA variation patterns in a sample of 81 Arab and Jewish Israelis, including three individuals of Sephardic origin and a possible existence of group-specific mtDNA fragment patterns was speculated.
Shortly after, in , a complementary work Tikochinski et al. Twenty-one distinct maternal linages were identified but no estimation of the introgression degree from the host population was performed. Later Thomas et al.
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The work included a large sample of Moroccan Jews, a community that, as previously stated, received Iberian Jews after their expulsion. Similar results were found in later works Picornell et al. In the work of Picornell et al. These communities also presented a high proportions of mtDNA haplogroup H.
Moreover, a remarkable west Mediterranean imprint among the Turkic Jewish sample was observed Behar et al.
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Mitochondrial haplogroup distributions of the Sephardic Jewish populations. Jewish samples are from the works of Picornell et al.
The detection of traces of Sephardic Jewish presence was addressed in several populations through the analysis of their possible contribution to the genetic background of the host populations. Such contribution was investigated in regions like the Portuguese north Atlantic archipelagos of Madeira and Azores Brehm et al. This pattern of mtDNA diversity, showing haplogroups from the Middle East, was associated with female-specific founder events and has been described in various Jewish communities Thomas et al. Such contribution was also analyzed in the New World populations, since Jewish migrations after the expulsion are well documented Barnavi et al.
One of the first works was produced by Carvajal-Carmona et al. The selection of such communities was done based on the occurrence of two mutations previously associated to genetic conditions described in different Jewish communities Ostrer, Complementary strategies have also been used to study this possible Sephardic contribution in a more recent work Bedford, The authors focused the analysis in a specific CR motif combination of certain variations initially named as T2e5, which can be currently located into the T2e1a1a1 clade, according to the updated mtDNA phylogeny in PhyloTree built 16 van Oven and Kayser, The complete mtDNA genome from a Turkish Sephardic individual belonging to this rare clade was also sequenced.
The authors observed the motif in twelve samples including Sephardic descendants from Turkey and Bulgaria, individuals from North American regions Northern Mexico and South USA, places known for receiving Spanish Conversos , and samples from Portugal and Brazil, also consistent with a speculated Sephardic ancestry. Further insights regarding the Sephardic signature inside T2e haplogroup and the genetic affinities of the T2e Northern Mexican samples were presented later Bedford et al.
The mitogenomes analyzed allowed to clarify the phylogeny of the Sephardic branches T2e1a and T2e1b. In parallel with the analysis of the male counterpart Y chromosome , the mtDNA variation in Portugal was used to investigate the maternal heritage in the current Portuguese genetic landscape. Similar results were found in a later work Gonzalez et al. Specific areas of Portugal were analyzed in detail, due to their distinctive geographic and demographic characteristics: Azores and Madeira islands have a recent settlement history and played an important role in the modern slave trade from Africa to the New World, which is reflected in the significant presence of sub Saharan lineages Brehm et al.
The possible contribution of Sephardic lineages to the female Portuguese genetic pool was investigated as previously stated Brehm et al. Behar et al. Mitochondrial haplogroup distributions of the Portuguese Sephardic Jews and non-Jewish population. The Belmonte community presented a very low diversity, with only two lineages detected, and all samples inside each haplogroup presented the same haplotype.
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The distribution of the haplogroups is uneven, since one of them, HV0b haplogroup, stands out with a frequency of The expansion of the haplogroup HV0, including the haplogroup V, had been proposed to have an Iberian origin, after the last glacial maximum, and nowadays can be also found in North African populations. However, little is known about the distribution of the HV0b clade. This scenario is compatible with its origin in the Iberian Peninsula and with an early introgression into the Iberian Jewry gene pool from its host population, as suggested by Behar et al.
Although new complete mtDNA sequences are needed for a better understanding of this particular clade, the results available so far support the hypothesis that at least the HV0bG haplotype is a Sephardic Jewish founding lineage. Another interesting clade that deserves further attention is T2e1. This clade was described as one of the founder lineages of the Bulgarian Sephardic community Behar et al.

A Near East origin for haplogroup T was proposed with a posterior expansion into Europe before the Neolithic. The distribution of some sub-clades, including the T2e lineage, was associated with posterior European indigenous dispersion events Pala et al. Moreover, the Braganca Jews present two further distinct coding region variants A and T. As stated by Bedford et al. Similar results regarding shared haplotypes between samples from Sephardic and Ashkenazi origin were found inside U2e1a1 sub-clade.
This pattern of shared haplotypes between Sephardim and Ashkenazim samples, firstly described by Bedford et al. Further genetic data will help to clarify this issue, but it is possible to add non-genetic evidence for the second hypothesis, since marriages between members of the two communities have been recorded Roth, ; Elvira, , the descendants having been assimilated into the Ashkenazi community.
In conclusion, the demographic processes underlying the genetic pool of the Portuguese Crypto-Jews descendants studied so far, are much more complex than would be expected under the classical model of extreme inbreeding and drift, with consequent loss of genetic diversity.