Phylogeographic Analysis of Paternal Lineages in NE Portuguese Jewish Communities

ABSTRACT

The establishment of Jewish communities in the territory of contemporary Portugal is archaeologically documented since the 3rd century CE, but their settlement in Tra´s-os-Montes (NE Portugal) has not been proved before the 12th century. The Decree of Expulsion followed by the establishment of the Inquisition, both around the beginning of the 16th century, accounted for a significant exodus, as well as the establishment of crypto-Jewish communities. Previous Y chromosome studies have shown that different Jewish communities share a common origin in the Near East, although they can be quite heterogeneous as a consequence of genetic drift and different levels of admixture with their respective host populations. To characterize the genetic composition of the Portuguese Jewish communities from Tra´s-os-Montes, we have examined 57 unrelated Jewish males, with a high-resolution Y-chromosome typing strategy, comprising 16 STRs and 23 SNPs. A high lineage diversity was found, at both haplotype and haplogroup levels (98.74 and 82.83%, respectively), demonstrating the absence of either strong drift or founder effects. A deeper and more detailed investigation is required to clarify how these communities avoided the expected inbreeding caused by over four centuries of religious repression. Concerning haplogroup lineages, we detected some admixture with the Western European non-Jewish populations (R1b1b2-M269, 28%), along with a strong ancestral component reflecting their origin in the Middle East [J1(xJ1a-M267), 12%; J2-M172, 25%; T-M70, 16%] and in consequence Tra´s-os-Montes Jews were found to be more closely related with other Jewish groups, rather than with the Portuguese non-Jewish population.

The Portuguese NE Jews display a much closer genetic relation to Jewish populations of Europe and the Middle East, especially other Sephardic groups, than to the Portuguese population. However, it should be pointed out that the high frequencies of haplogroup R1b1b2, less frequent in other Jewish populations, indicate a significant level of admixture with non-Jewish Iberian populations.

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Family Tree DNA's Walk the Y yields new SNP's for Haplogroup J2

A program by Family Tree DNA, Walk through the Y, was set up late last year to allow customers to search for new SNP's or branches to their respective Y-DNA haplogroups. Recent testing on a number of Haplogroup J2 participants has yielded 9 new SNP's, many of which will prove to be phylogenetically informative in branching current subclades. Below is a list of SNP's found to date:

• L207.1 A6813448G found in J-L70 and J-L25 participants. May be synonomous with J-L24 or L25.
• L210 A15001591T found in one J-M67 participant.
• L212 T21120853C found in J-M67 and J-L25 participants.
• L218 deletion at 20199329 found in J-M67 participant.
• L227 C6919963T found in J-M67 participant.
• L228 C7831358T found in J-M67 and J-L25 participants.
• L229 C6813447T found in one J-L25 participant, ancestral in another.
• L230 G20327921A found in one J-L25 participant, ancestral in another
• L231 C13524835G found in one J-L25 participant, ancestral in J-M67.

It is likely more SNP's will be found as a more thorough analysis of the results has yet to be done. Also, results from other J2 participants have yet to arrive. SNP's can be used to determine the branchin within the Y-Chromosome tree and it is likely some of these SNP's will determine new terminal branches under J-M67 and J-L25.

Saudi Arabian Y Chromosome Diversity and its Relationship with Nearby Regions

A new provisional study by Dr. Khalad Abu-Amero et al takes a detailed look at the genetic makeup of Saudi Arabians and provides a comparison with its geographical neighbours. Saudi Arabia has long been unsurveyed from a Y Chromosome Perspective and while many areas of the Middle East have been well studied, this new paper does shed light on the distribution of haplogroups in the Arabian Peninsula. Haplogroup J1, M267 was most frequent overall, representing 40% of the Y Chromosome samples. The authors are quick to note however, that Saudi Arabia is distinguished from its neighbours by higher levels of M172, Haplogroup J2. Haplogroup J2 was the second most frequent haplogroup found in the Study sample, representing 15.92% of the total. These J2 lineages were also tested for subclades M410, M47, M67, M92, M158, M339, M340, M12 and M241. The most frequent subclade of J2 was J2a, M410+ with the deletion at DYS 413 (rs34126399), which represented about 72% of all J2 in the study. M47 was also detected at 2.55% of the total or 16% of the J2 total. The higher levels of J2 found in Saudi Arabia were explained by the study's authors as being a result of Saudi Arabia's geographical proximity to the Fertile Crescent and northern boundary with the Levant. With respect to Haplogroup J1, the authors estimate, using a 0.00069 mutation rate, divergence ages for M267 at 11.2kya for Saudi Arabia and 11.3kya for Yemen, also noting these ages as significantly older than estimates for UAE, Qatar and Oman. This suggested a terrestrial colonization and spread of Haplogroup J1 in Saudi Arabia.

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Y chomosome Genetic Landscape of the Levant

A new study of Y chromosome haplogroup distribution in the Levant, appearing in the Annals of Human Genetics, establishes a complex pattern of haplogroup distribution, especially with haplogroups J1 and J2, and theorizes on a coastal-inland contrast differentiating J1 and J2 in the Levant. The study included the DNA of 5874 men from the Levant and neighbouring regions, and the results established a coastal-inland, east-west pattern of diversity and frequency distribution within the Levant. The study again shows the most frequent haplogroup in Lebanon is Haplogroup J2, with a frequency of 29.4%. In the South of Syria, in the cities of Damascus and Diraa, J2 was present at frequencies of 24% and 83.3% respectively. In Lebanon, J2 was found in its highest frequencies at Zahle (37.5%) in the Bekaa Valley and at Byblos (36.4%).

Haplogroup J1 was revealed to show a larger frequency but lower diversity in inland regions of the Levant. The authors note most of the interior, where higher frequencies of J1 were found, were arid with semi-desert conditions which support a lower population diversity. Consistent with previous analyses, coastal Levantine regions showed a high frequency of Haplogroup J2.

"The diversified J2 reduced-median network and high coastal frequency suggest a sustained and non-interrupted presence of this haplogroup along the Eastern coast of the Mediterranean"

Geographical Structure of the Y-Chromosomal Genetic Landscape of the Levant: A coastal-inland contrast

Jewish priesthood founded on limited paternal lineages

A new study of the Jewish priesthood (Cohanim) suggests the majority of contemporary Jewish priests descend from a limited number of paternal lineages, the 2 largest being in J1e (P58) and J2a (M410). Over 60% of Cohanim descend from one of these 2 paternal lines. Unfortunately the paper did not test for newly discovered SNP's L24 and L25 (rs35248080 and rs34534058), known to be found in a large set of J2 Ashkenazi Cohanim. These haplotypes were simply defined as J2a, M410 in this paper. The study identifies 2 principal founding lineages for Jewish priests, one in J1e (P58) dating back to a common ancestor who lived approximately 3190 years ago and another lineage in J2a (M410) dating back to a common ancestor who lived 4200 years ago. It is also interesting to see a 3rd lineage of Jewish priests from the island of Jerba defined by SNP M318 which also lies downstream of SNP's L24 and L25, also known as J2a4h.

The study was a long overdue followup to a 1997 study which identified a 6 marker Cohen Modal Haplotype. This new paper identifies an expanded 12 marker haplotype in J1 found in a large portion of Cohanim who carry the Y-Chromosome M267 (J1) SNP. The study also showed the likelihood of both the J1e and J2a genetic signatures dating back to before the Jewish diaspora since both signatures were found in Jewish communites from the Near East, Eastern Europe and the Mediterranean, communities which have been, for the most part, separated since roman times.

Neolithic Migrations in the Near East and Aegean

Dr. Roy King has contributed a very interesting chapter to a 2009 book, Ancient Human Migrations, where he provides some insight into the earliest migrations of Haplogroups J1 and J2. He applies linguistic and archeaological research to the current spread, diversity and frequency of Y-Chromosome haplogroups J1 and J2 to theorize on their deepest origins. Among some of the noted general observations was the trade in Obsidian dating from 9000BC originating from sources near Lake Van in Eastern Anatolia and found in the southern Levant.


His observations on Haplogroup J2 are especially interesting, noting its highest variance which is one component of a possible origin, being found in South Eastern Anatolia, Northwestern Iraq, the Mediterranean and among Palestinians living in coastal Israel. He notes these variances are higher than in other areas such as Iran and the Caucasus where high levels of J2 are also found. Using STR mutation rates of .0007 per generation (rates theorized by Zhivotovsky et al), he theorizes an expansion of J2 between 19,000 and 25,000 BCE presumably placing J2 during the Last Glacial Period at refugia areas in the middle Euphrates and southern Levant. From there, he theorizes, J2 was well positioned to participate in the Neolithic Expansion to areas like Southeastern Europe, the Caucasus, Iran and India.

Dr. King also notes an interesting correlation with a subclade of Haplogroup J2, M67, and place names in the Aegean, Balkans and Italy while citing a deeper origin for subclade M67 in Northern Syria or southern Anatolia. The age and spread of M67 seems associated with proto-greek substratum in the Aegean.

Some of the most interesting theories put forth in the chapter deal with linguistics. While noting that multiple haplogroups are likely involved in the spread of languages through the middle east, Dr. King noted a correlation between very old Middle Eastern languages of uncertain origin and Haplogroup J2 while at the same time theorizing that Haplogroup J1 may have been involved in spreading Semitic languages through the region. These old languages possibly linked to J2 are known to have existed in Mesopotamia and the Northern Levant and this substratum is sometimes referred to as "Banana" languages due to their syllabic duplication.

Underlying both these migrations, there may have been a population dating to the LGM characterized by J2 Y lineages whose set of languages is unknown but may have included syllabic reduplication in their morphology... Immediately after the LGM, southeast Anatolia, northern Syria and coastal Palestine may have provided refugia to populations marked by J2 lineages of uncertain linguistic character.

Haplogroup J2, M172 in Antalya, Turkish Republic

Timur Serdar and Demircin Sema authored a recent study on the Y chromosomes of Antalya, which is located on the southern coast of Anatolia. Haplogroup J2 was most frequent in this study of 75 unrelated males found at a frequency of 26.6%. The J2 data was consistent with an earlier study by Cinnioglu et al which found 24% J2 in southern Anatolia. Haplogroup T (K* in the study) was next most frequent at 13.3% and this data differed from Cinnioglu's data which found only 3.3% Haplogroup K in southern Anatolia.

The first record of Antalya was as Attalia, a greek city founded approximately 150BC by Attalos II, King of Pergamon.

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