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These communities have kept, for more than years, their hidden religious practices and their cultural identity using complex social strategies. Uniparental genetic markers were typed in both communities Adams et al. A Troubled History The settlement of Jewish groups in Iberia undoubtedly occurred long time ago, although the exact date of their appearance is still today uncertain.

Written documents mentioning the presence of Jewish communities in Iberia accumulate from the beginning of the Visigothic period onward: in the 4th century CE, the decisions of the Council of Elvira, particularly the interdiction of marriages between Jews and Christians, confirm their complete integration among Iberian communities Martins, ; Wilke, The decree of expulsion of all Iberian Jews who would not embrace the Christian faith by the Visigothic King Sisebut in CE marks the beginning of Crypto-Judaism and was a harbinger of their subsequent dramatic history in the Iberian Peninsula Martins, ; Wilke, A climate of tolerance between Jews, Muslims and Christians marked the Islamic period in Portugal from to Jews were at that time a demographically non-negligible minority with a very heterogeneous social status Martins, From the 12th to the end of the 13th century, the geography of Judaism changed significantly with the Christian settlement policies, to which the first Jewish medieval colonies owe their existence Wilke, From the beginning of the Portuguese nation in , until the Expulsion Edict in , the successive Portuguese monarchs balanced the predominance of the Jewish social and economic life against the anti-Judaic clerical and popular pressures Martins, Contrasting with the favorable measures toward the Jewish population, several opposite restrictive policies were also adopted by the successive Portuguese kings Paulo, ; Azevedo, ; Pignatelli, ; Martins, The 14th century marks a dramatic change in this fragile equilibrium, which nevertheless allowed the emergence of Jewish communes in Portugal.

The estimates of the size of the Portuguese Jewish population vary between 30 to more than 60 This number would increase substantially with the arrival of around Spanish Jews fleeing from their country Carvalho, ; Martins, These events would have a strong impact in the future of the Portuguese Jews Canelo, ; Pignatelli, ; Martins, The initial tolerance toward the Spanish exiles and the Portuguese Jews was, however, doomed. Accordingly, in December of the King signed the Portuguese Edict of Expulsion, ordering the departure of Moors and Jews by October of the following year Canelo, ; Pignatelli, However, in May of , about 20 Jews from all over Portugal, who were preparing for exile, were forcibly baptized.

As a result, there were officially no more Jews in Portugal, and instead, a new identity was created: the new-Christians or Conversos Martins, The ambiguous policies adopted toward these communities, where some rulings favored the Jews and others worked against them, highlights their socioeconomic importance. In fact, King Manuel I of Portugal prohibited inquiries regarding the Jewish faith for 20 years, allowing for an accepted crypto-Judaism Pignatelli, ; Martins, In the 17 and 18th centuries, the inquisitorial processes intensified and as a result, there was a significant exodus of Jewish people to other countries, particularly of manufacturers and the merchant elite Paulo, The exact number of people who emigrated is not known, however, it is thought that in the Jewish population was reduced to 10 Carvalho, The rebirth of the Jewish communities in Portugal took place in the early 19th century, when the Marquis of Pombal ended the official discrimination and persecution performed by the Inquisition Carvalho, ; Martins, In the medical field, the Ashkenazi community has been by far the most investigated Jewish group.

There is a vast list of published studies focusing on genetic diseases in the Ashkenazi population Ostrer, ; Alcalay et al. Thus, genetic diseases commonly found in Sephardic Jews can comprise particular disorders that are exclusive to a specific sub-populations of this heterogeneous group Rosner et al. With regard to the genetic disorders of the Sephardic Jews who stayed in Iberia after the decrees of expulsion and the establishment of the Inquisition, very little is known.

The only recognized Jewish population in the Spanish territory that follows this criterion are the Chuetas. Several reports are available with clinical relevance Buades et al. As to Portugal, there is only one report on a Jewish genetic condition, an autosomal recessive form of retinitis pigmentosa studied in the Crypto-Jews of Belmonte Gerber et al. Similar to other Sephardic specific variants, as the consequence of sustained inbreeding practices, this seems to have arisen — years ago, after the establishment of this isolated population in Belmonte Gerber et al.

Recent studies also reported a high prevalence of this disorder in Ashkenazi Jews Zelinger et al. Monoparental Genetic Markers In recent years, the analysis of uniparentally inherited genetic systems, the non-recombining region of Y chromosome NRY and mitochondrial DNA mtDNA , has played a central role in disclosing the demographic events that have shaped modern human population structure Brown, ; Cann et al. Both genetic systems have been used since the 90 s in the analysis of Iberian Peninsula populations, producing a detailed genetic landscape Arroyo-Pardo et al.

Thomas et al. Subsequent studies Hammer et al. A high-resolution Y chromosome haplotype analysis on unrelated Israeli and Palestinian Moslem Arabs showed a common pool for the male lineages. However, some significant differences were also detected between Jews and Arabs, suggesting a recent divergence of the Arab clade from the common ancestral population Nebel et al. The research on the Jewish Priestly lineages, Levites and Cohanim was again addressed by Behar et al.

A very recent study Tofanelli et al. These motifs were observed in independent lineages from different ethnic, cultural and geographic groups, probably due to multiple founder events, recombination and admixture of the Jewish genetic pool in the course of their history Tofanelli et al. Sephardic Jews were also included in studies of the Y chromosome phylogeography Semino et al. The genetic profile of the Sephardic Jews can be seen in Figure 1.

Y Chromosome haplogroup distributions of Sephardic Jewish populations. Sectors in pie charts are proportional to haplogroup frequency. Number of total individuals n are in brackets for each population. Jewish samples are from the works of Shen et al. Several studies refer to the putative contribution of Sephardic Jews to the Y chromosome genetic pool of particular geographic regions, like the Azores and Madeira islands Goncalves et al.

Y Chromosome in Sephardic Portuguese Jews The profile of male lineages in Portugal was drafted in a study comprising male samples from the 18 administrative districts of Portugal and a typical western European composition was demonstrated by the high frequencies of haplogroups R1b1a-M Possible Sephardic contributions to this genetic pool were also addressed in some reports Goncalves et al. These samples were included in a larger group of self-defined Sephardic Jewish males not only from the Iberia Peninsula but also from other countries that received Jewish exiles after the decrees of expulsion in the 15th century.

This group of self-defined Sephardic Jews was treated as a single group, therefore the inference of a genetic profile for the Portuguese Jews was not possible from the published data. In the following, we will focus on the results obtained exclusively for the 16 Jewish samples of Belmonte, obtained upon request to the authors Adams et al. The genetic profile of the Portuguese Jewish and non-Jewish male lineages can be seen in Figure 2.

The Y chromosome SNPs analyzed allowed the definition of just three different lineages in Belmonte Jews: eleven individuals were classified as Jf2. The SNPs typed allowed the discrimination of 10 different haplogroups and the analysis of the Y-STR loci revealed 41 different haplotypes. The most frequent haplogroups found were R1b1a-M, Jf2. However, the high haplogroup diversity combined with the high intra-haplogroup haplotypic diversity are extremely surprising, as they show exactly the opposite of what is expected, namely a deep genetic diversity loss.

Haplogroup R1b1a-M, representative of Western Europe, is the most common lineage found in the Portuguese general population In contrast, haplogroup Jf2. The same happened with haplogroup T-M70 Haplogroup R1b1a-M, emerges as the most frequent lineage in European individuals.

Its distribution displays an increasing gradient moving from east to west Semino et al. Lineage R1b1a-M was associated with the expanding Neolithic movements from the Near East to the western fringe of Europe, although this is still a matter of debate Balaresque et al. This haplogroup was absent in Jewish population studies until the report of Adams et al. A lower genetic distance between the Portuguese Jewish and non-Jewish R1b1a-M haplotypes than between these two samples and the one from Turkey was detected.

Thus, an important Western European R1b1a-M introgression into the Portuguese Sephardic Jews, most probably after their arrival in Iberia, is the most plausible scenario Nogueiro et al. Haplogroup Jf2. Lineage J2-M is more common and is widely spread over Europe, particularly in the Mediterranean basin Semino et al. This haplogroup is referred to as being predominant in diverse referenced Jewish populations Hammer et al.

While in Portugal it accounts for 3. The high frequencies of Jf2. The presence of the mutation M70 defines haplogroup T. The private practicing of Jewish customs while outwardly practicing Christianity has been passed down from generation to generation. According to one estimate, thousands of Conversos live in Portugal. The number is difficult to pin down because of the secretive nature of crypto-Judaism. In Portugal today, families with crypto-Judaism in their background carry out a few Jewish customs, often with a twist, in a clandestine manner.

For instance, Shabbat candles might be lit, but the windows are shut while the candles burn inside a closet. As these conversions continue, these people may become the new Jewish community of Portugal. In the mountain village of Belmonte, where about 10 percent of the 3, inhabitants used to fall under the category of crypto-Jews, a man in traditional Jewish garb sat on his porch, reading from a Jewish book.

This out-of-place man was Rabbi Samuel Sebag, who took responsibility four years ago for the Belmonte conversions under the auspices of the Jewish Agency for Israel. One by one, the crypto-Jews were converted to Judaism in Belmonte, whose crypto-Judaism was discovered in , a time when other historians supposed that the last of the New Christians had disappeared.

Apparently, the community continued because it existed in a remote area, away from the courts of the Inquisition, and because marriages took place within the community. In the Belmonte of , Sebag has taught the Jews how observe Shabbat, hold a Passover seder and have a kosher household. For centuries, the Jews of Belmonte never saw Hebrew, much less read it.

They do not show much interest in Jewish history. Most interesting to them is the story of Esther, who kept her Jewish faith in a non-Jewish society. The Holocaust and the State of Israel elicit little concern. Roots of Judaism exist in other villages as well.

In Tomar, a synagogue recently reopened as a museum, which is run by one of the few Jews who inhabit the town.

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