YCC J2a13 P279 likely resides above 413 deletion

The YCC Subclade J2a13 (ISOGG J2a1j) defined by the SNP P279 has been found derived in one FTDNA Haplogroup J project participant who's paternal line originates is Southern France. It is among the first examples of this very rare subclade found to date, and the result will also likely allow ISOGG researchers to more properly place this subclade on Y chromosome tree. The reason is that this participant carries values of 22 and 22 at DYS 413. This marker, DYS 413, in J2, is usually found with values at or near 17 and it is believed this deletion event represents a division of J2 which is likely now defined by SNP's L26 and L27 (L26=rs34126399). Thus, the P279 result shows that P279 is a branch of J2 which falls into the group that does not carry these SNP's, L26 and L27.

The participant only has one 1 step mismatch from Syria on public databases including YHRD, SMGF and Ysearch.

Evidence of a Cultural diffusion of agriculture in Southeast Europe

A recent paper by Battaglia et al, Y chromosomal evidence of the cultural diffusion of Agriculture in Southeast Europe, attempts to measure the impact of Neolithic farmers from the Middle East on Southeastern Europe to determine if these farming technologies were spread to Europe more through cultural contact or through migrations of Near Eastern peoples into Europe. The neolithic expansion into europe is a complex process likely involving multiple migrations and cultural diffusion over a period of time starting around 9000BC. In this study, Y Chromosome data was collected from 16 regions of South East Europe. The findings suggest that Haplogroup J2b-M241 correlates with the Neolithic period, has a different migration and origin from J2a-M410 and that J2b-M241 may have been involved in the process of admixture with Mesolithic peoples, thus being among the first peoples to introduce agriculture to Euorpe.

Levels of J2a-M410 were very low through the areas studied with little correlation of subclades. J2b frequencies showed a spike in Albania at 14.5% and was found in Greece and the Czech republic at rates of around 4%. The findings of the authors suggest that Haplogroups I and E-V13 were representative of Mesolithic peoples already present in the region who adopted the farming technologies introduced by near eastern farming colonists. From SE Europe where this cultural contact took place, agriculture then spread through Europe crossing the Adriatic into Italy.

Although southeast europe shows considerable archaeological evidence of the Neolithic transition, our Y-Chromosome results provide biological evidence of complexity in the transition to farming in terms of the contrasting influences of pioneering agriculturalists and Mesolithic foragers.

Y Chromosomes of Iberia reflect Sephardic and Moorish Origins?

A recent article in the American Journal of Human Genetics, The Genetic Legacy of Religious Diversity and Intolerance: Paternal LIneages of Christians, Jews and Muslims in the Iberian Peninsula attempts to estimate the percentage of Sephardic Jewish and Moorish origins in the present day Iberian population. The results yielded very surprising figures; that upwards of 20% of Iberian Y Chromosomes are of Sephardic Jewish origin and 10% could be of Moorish origin. The history of Iberia certainly records the presence and impact of these 2 cultural groups on the peninsula. This article represents the first attempt using genetics to estimate levels of religious conversion that happened during the Spanish Inquisition period. The study included 1140 DNA samples from Iberia, representing a hugely informative look at the haplogroups of Spain and Portugal as well as long awaited data on the Sephardic Jewish communities mostly originating from Belmonte, Bulgaria, Djerba, and Turkey. The data itself shows that of the 14 haplogroups found in the Sephardic Jewish community, M172, Haplogroup J2 is the most frequent haplogroup overall, representing 25% of this population group. This was followed closely by M267, Haplogroup J1 which represented 22% of the total. In the Iberian Peninsula, M172, Haplogroup J2 was most frequent in the south, 15% in Southern Portugal, 14% in Western Andalusia and 12% in Extremadura. Interestingly, the Balaeric Islands showed lower levels of M172, Haplogroup J2 in Majorca, Minorca and Ibiza at 8, 3 and 4% respectively.

One glaring observation which might challenge the conclusions of the article is the ratio of J:J2 found in the Sephardic Jewish population compared to that of the Iberian population. This ratio is 0.88 (22% vs 25%) in the Separdich Jewish population but only 0.125 (1% vs 8%) in the Iberian Population. If one was to assume the converted Jewish population of Iberia contained a similar genetic makeup to present day Sephardic Jewish communities, looking at Haplogroup J1 as a defining marker, the amount of Sephardic ancestry could not exceed 5% since J1 makes up 22% of present day Sephardic Jews but was found in only 1% of Iberians. From this perspective, the articles conclusions of a 20% Sephardic Jewish ancestry seem lofty. The study's approach was to look at the genetic markers of the Basque population, Moroccan population and present day Sephardic Jewish population to represent Iberian, Moorish and Sephardic ancestry respectively. It then compared this data with that of the 1140 Iberian Y-Chromosomes from the study. Again, the study seems to largely discount the possible input of Phoenician or other near eastern populations as a source for the present day genetic makeup of the Iberian Y chromosome data assuming both Phoenician and Greek impact would be in the eastern parts of Iberia and not in the West where most Haplogroup J2 and J is found. The authors also note a good degree of Haplotype sharing (exact matches) at 3.6% between Sephardic Jewish haplotypes and Iberian Haplotypes. The study also notes the Sephardic sample which is taken from a small group of individuals would have been subject to Founder effect, bottlenecks and other factors which might reduce haplotype diversity.

Looking at the impact of the Moors, the study does provide good evidence linking E3b (M81) to a Moorish population originating in North Africa. The low diversity of this genetic marker comparing North African and Iberian M81 haplotypes supports a very recent common origin, likely brought to Iberia by the Islamic Moors, who controlled the Peninsula for 700 years.

Overall the study does a good job of a very difficult task in attempting to uncover the genetic history of Iberia and how its recent history has had a profound impact on its present day population which undoubtedly includes both Sephardic Jewish and Moorish origins.

Update on rs35248080

The SNP found in Haplogroup J2, rs35248080 should likely split the M410 branch of J2 into 2 large subgroups. Those positive for rs35248080 seem to include all or part of 2 J2 clusters referred to as J2a1h (ISOGG) also known as J2a-Lambda (J2 Y-DNA Project) as well as another cluster, pre-J2a1h (Haplogroup J project) or J2a-Beta (J2 Y-DNA Project). Thus far haplotypes which are M67+ are negative for the SNP rs35248080, haplotypes in J2a that do not carry the deletion at DYS 413 are also negative. Participants in J2b are also negative. Haplotypes which carry a distintive 9 repeats at DYS 450 as well as 6 or 10 repeats at DYS 445 which define J2a1h/J2a-Lambda and pre-J2a1h/J2a-Beta respectively have tested positive for the new SNP. Testing is ongoing.

Elamo-Harappan origins for Haplogroup J2 in India?

The presence of Haplogroup J2 in India, including the subclades M410 and M241 has been an often overlooked clue to the origins of M172. Sengupta et al, in 2005 worked to explain the presence of M172 in India. Their paper provides an immediate acknowledgement of the proposed spread of proto-Elamo-Dravidian speaking peoples into India originating from the Indus Valley and southwest Persia. The idea that M172 may have been carried into India with proto-Elamo-Dravidian groups is supported by the frequencies of Haplogroup J in one of the only remaining Dravidian Speaking ethnic groups in the Iranian Plateau, the Brahui. 28% of the Brahui, an ethnic Dravidian speaking group from Western Pakistan were found to carry the mutation defining Haplogroup J. Overall Haplogroup J2 in India represented 9.1% of this very populous nation. In Pakistan, M172 accounted for 11.9% of the Y-Chromosomes typed. Sengupta's paper broke down the frequencies of Haplogroup J2 into various caste and language groups. J2 was found to be significantly higher among Dravidian castes at 19% than among Indo-European castes at 11%. J2a-M410 in particular may be a strong candidate for a proposed migration of proto-Dravidian peoples from the Iranian Plateau or the Indus Valley since J2a M410 is a very high component of the haplogroup J2 chromosomes found in Pakistan. Over 71% of the M172 found in Pakistan was M410+.

Another interesting characteristic in the distribution of M172 and more specifically, M410, in India was its higher frequencies in Upper Caste Dravidians. M410+ chromosomes were found in 13% of Upper Caste Dravidians. Sengupta goes on to suggest an Indian origin of Dravidian speakers but from a Y chromosome perspective, the paper seems to acknowledge M172 arriving in India from Middle Eastern and Indus Valley Civilizations.

Despite an apparent exogenous frequency spread pattern of J2a toward North and Central India from the west, it is premature to attribute the spread to a simplistic demic expansion of early agriculturists from the Middle East....it may also reflect subsequent Bronze Age Harappans of uncertain provenance.

Subclades of M172 such as M67 and M92 were not found in either Indian or Pakistani samples which also might hint at a partial common origin. And while there may be multiple events and origins for M172 lineages in India, it does seem likely that the Indus Valley and Elamo-Dravidian speaking groups may be the origin of some of the M172 found in India today.

Y chromosomes of Sicily

In May of 2008, Cornelia Di Gaetano et al submitted an article to the European Journal of Human Genetics studying the Y chromosome makeup of the island of Sicily. Sicily has one of the highest frequencies of Haplogroup J2 (M172) in the mediterranean. J2-M172 made up 33% of the Y chromosome signatures on the island and was non-randomly distributed occurring at higher frequencies in the eastern areas of the island. This distinction was evident in the subclades, M67 and M92, which have previously been linked to Greek and proto-greek colonization. Both M67 and M92 were twice as frequent on the eastern portion of Sicily which displays more archaelogical traces from the Greek classic era. Even the paragroup of undistinguished J2 haplotypes (M172) was more than twice as frequent in Eastern Sicily. One of the more interesting subclades, referred to as J2a1k (DYS445=6) showed an interesting non-random distribution in Sicily. This subclade is also commonly referred to as J2a1h (ISOGG) or J2a-Lambda (J2 DNA Project). Most striking was differences in frequencies between Mazara Del Vallo and Sciacca. Mazara Del Vallo is a port city established by the Phoenicians in the 9th century B.C. while Sciacca, known as Thermae in Greek times, was founded in the 5th century B. C. by the Greeks. These 2 cities, founded by different groups are only 57 KM apart. Yet 11.11% of the Y chromosomes in Mazara del Vallo were J2 M172 with DYS 445=6 while this subclade was absent from the sample data from Sciacca. Trapani, another port city in Western Sicily also exhibited high levels of J2-M172 with DYS 445=6 at 9.09%. This subclade was absent from the inland cities of Santa Ninfa and Piazza Armerina and the northern Sicily town of Caccamo. The data seems to suggest that J2a1h (J2a1k)'s distribution is stronger in coastal regions of Western Sicily and more rare in inland and Eastern parts of the island. The sole exception to this trend was the data from Troina which did report 10% J2 M172 with DYS 445=6. Overall the non-random and high levels of J2 on the island of Sicily seem to reflect the complex history of the island and might represent multiple migrations by multiple groups over various periods of the islands history.

The general heterogeneous composition of Hgs seen in our Sicilian data is consistent with similar patterns observed in other major islands of the Mediterranean, like Sardinia and Crete, possibly reflecting the complex histories of settlements in these islands during the Holocene.

(Link)

Phoenician Footprints in the Mediterranean

Pierre Zalloua and the Genographic Consortium have been hard at work trying to retrace the steps of the Phoenician civilization which dominated trade in the Mediterranean 2 to 3 thousand years ago. From their homeland in the Levant, they established colonies and trading posts throughout the Mediterranean eventually disappearing into history. Zalloua et al are attempting to find some genetic trace of the phoenicians by examining the Y chromosome of men from areas of known Phoenician settlement. Their results link haplogroup J2 and 6 specific Y chomosome haplotypes as having contributed >6% to the present day Y chromosome gene pool of the specific populations studied. The paper focuses on Malta, Tunisia and Southern Spain as phoenician influenced regions spreading from a Phoenician Heartland in present-day Lebanon. Some of the highest levels of Haplogroup J2 are provided in the supplemental data including 28% J2 in the area defined as the Phoenician Heartland, 22% in the neighbouring periphery regions, 37% in Cyprus, 32% in Malta, 14% in Coastal Tunisia and 11% in Southern Spain. Tunisia, in the eyes of the authors provided a valuable contrast:

The excess of J2, PCS1+, PCS2+, and PCS3+ (Phoenician Colonization Genetic Signatures) in coastal Tunisia, the site of Carthage, compared with inland Tunisia is particularly salient, because these lineages are considerably more rare in North Africa than in Southern Europe. It also suggests that the Roman destruction of Carthage did not eliminate the Carthaginian gene pool. Further support for the PCS+ haplotypes' spread with the Phoenicians is illustrated by their generally high frequency among the Phoenician contact sites across the Mediterranean basin (Figures 1D–1F).

The authors used a variety of control tests to estimate the impact of Neolithic, Greek and other population migrations the the studied regions. They noted that only one Haplogroup, J2 consistently scored significantly in all their Phoenician-colony tests across the range of colonization sites. They also identified 6 specific 7 marker haplotypes they believed associated with the Phoenician expansion but acknlowledged that the limited phylogenetic resolution of the haplotypes (their small size) would pick up signatures not necessarily involved with Phoenician expansion. They also hope that future identification of SNP's may lead to the discovery of some rare but distinctly Phoenician genetic signatures. The link to the full paper is on the left side in the links section.