Jewish Mt-DNA Spotlight: HV1b2
European converts, or relic of Israelite past?
Background
HV1b2 is one of the many Mt-DNA haplogroups typically found amongst Ashkenazi Jews. Per Kevin Brook (2022) in “The Maternal Genetic Lineages of Ashkenazi Jews”, HV1b2 is the 5th most common Mt-DNA in Ashkenazi Jews - around 3.99% of all Ashkenazim.
For those not aware of what Mt-DNA is, from a population genetics perspective, it is the marker passed down from a mother to her sons and daughters.
When Mt-DNA of Ashkenazim is typically discussed, emphasis is normally placed on the preponderance of markers of European origin (primarily by bad-faith actors). This is often considered ironic given how (at least in modern Judaism) ones “Jewishness” is passed down via the mother, while the origin story of Ashkenazi Jews is that we ultimately came from the land of Israel (which is viewed to conflict with having some degree of European Mt-DNA).
This begs the question: Did HV1b2 arise from European converts to Judaism, or rather is it a relic of the Levantine Jews of Antiquity who came from the Middle East?
Europe or the Middle East?
One of the earliest studies that looks at HV1b2 in any capacity is Costa et al (2013), “A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages”.
This was one of the first studies to put forth the view that the majority of Ashkenazi Mt-DNA stems from European converts to Judaism. This was in contrast to earlier works such as Behar et al (2006), “The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event” which concluded:
“In the Ashkenazi Jews, this approach enabled us to reconstruct a detailed phylogenetic tree for the major Ashkenazi Hgs K and N1b, allowing the detection of a small set of only four individual female ancestors, likely from a Hebrew/Levantine mtDNA pool [in reference to the four largest Ashkenazi Mt-DNA lineages]”
Through inspection of Costa et al (2013), HV1b2 is mentioned briefly:
“Fewer than 10% of the Ashkenazi mtDNAs can be assigned to a Near Eastern source with any confidence, and these are found at very low frequencies (Fig. 2). The most frequent, belonging to HV1b2, R0a1a and U7, are found at only ~3, 2 and 1% respectively. All are widespread across Ashkenazi communities, and might conceivably be relicts of early Levantine founders, but it seems likely that other more minor Near Eastern lineages are the result of more recent gene flow into the Ashkenazim.”
From the above, Costa et al seemed confident to prescribe a Middle Eastern origin to HV1b2, with the possibility of this marker stemming from the early Levantine Jews of Antiquity.
From their phylogenetic tree, it can be seen the branches immediately sibling to HV1b2 are present in the Middle East and North Africa:
In addition to Costa et al (2013), we also have Kevin Brook’s (2022) work, “The Maternal Genetic Lineages of Ashkenazi Jews”, which provides a comprehensive breakdown of all Ashkenazi Jewish Mt-DNA lineages, in some instances challenging the conclusions of Costa et al (2013).
His work had the following to say about HV1b2:
“Genetic evidence supports HV1b2’s potential Israelite origin for Ashkenazim but it could have also derived from another part of West Asia.”
With regards to HV1b2, both studies seem to come to the same conclusion that HV1b2 ultimately derived from the Middle East, possibly being a relic of the early Levantine founders of Judaism.
Middle Eastern Converts?
In the original question I posed, I suggested that HV1b2 can either be prescribed to European converts, or early Levantine Jews only. But is it possible that while HV1b2 could have come from the Middle East, perhaps it was derived from a population other than the early Levantine Jews of Antiquity?
This is put forward by Shamoon-pour et al (2019) in “Rare human mitochondrial HV lineages spread from the Near East and Caucasus during post-LGM and Neolithic expansions”.
This study provides greater context to the structure of the broader haplogroup HV1b, being split into HV1b1 (found in Arabia and Eastern Africa) and HV1b-152 (found in Ashkenazi Jews - HV1b2, Armenians, Assyrians, Tunisians, and Italians):
Based on the work they performed, they put forward the hypothesis that HV1b2 originated in Assyrian and/or Babylonian captivity due to the surrounding modern Assyrian and Armenian diversity:
“Our updated phylogeography of HV1b-152 suggests its pre-Neolithic origin in South Caucasus or northern Mesopotamia, with HV1b2 positioned close to two Assyrian branches. Given our age estimates for HV1b2, it is conceivable that this clade originated among the displaced Jewish communities during Assyrian and Babylonian captivities (2.5–2.7 kya), and likely remained exclusive to the Jewish populations that settled in Upper Mesopotamia, including Adiabene and Osroene Kingdoms, up to 1.7 kya.”
Such a hypothesis results in more questions than answers - did these Jews who carried the newly formed HV1b2 return to Israel to form part of the later Western Jewish Diaspora, allowing the marker to be present in Western Jewry? Or is HV1b2 amongst Ashkenazim a reflection of more recent gene flow between Mizrahi Jews and Western Jews?
So Who is Right?
In Summary: On the one hand, some studies (Costa et al 2013) suggest that HV1b2 could be a relic of early Levantine Jews, while on the other hand, some (Shamoon-pour et al 2019) suggest that HV1b2 could be a result of Assyrian/Babylonian converts to Judaism.
Up until now, I’ve focused solely on what published papers have to say surrounding HV1b2. Beyond this point, I intend to fill the gaps and document new information that has come to light in recent years in the hopes of coming to a clearer conclusion.
The overwhelming majority of HV1b2 carriers today are Ashkenazi Jews, and is particularly more frequent in Litvaks than other Ashkenazic groups. HV1b2 splits into two branches, HV1b2a and HV1b2b. Ashkenazim are all in HV1b2a. HV1b2a has also been found in Sephardic Jews and Romaniote Jews. It has also been found in a Pontic Greek (previously public on YFull).
A few significant discoveries occurred several years ago where HV1b2 was found to be fairly frequent in Mountain Jews (a Mizrahi subset). To my understanding, they also fall within HV1b2a.
Similarly, we confirmed a case of HV1b2 in an Iraqi Jew - this individual falls within HV1b2b. HV1b2 has also been found in an Egyptian Jew (identified via 23andMe).
HV1b2b is also home to an Armenian from Muş (Eastern Turkey) and a Tuscan.
Other modern individuals within HV1b2 (no deeper branch identified) include a Moroccan, a Yezidi Kurd, and a Sicilian.
Fähnrich et al (2021), “North and East African mitochondrial genetic variation needs further characterization towards precision medicine” found an Egyptian from Mansoura who belongs to HV1b2, as well as several Egyptians who belonged to HV1b+152. It is unclear how these individuals would impact the structure.
Elliot et al (2022), “Fine-Scale Genetic Structure in the United Arab Emirates Reflects Endogamous and Consanguineous Culture, Population History, and Geography” found an Emirati from Ras Al Khaimah that belongs to HV1b2.
Nearby HV1b3 was recently joined by a Jordanian from Amman, who, interestingly, is paternally originally Samaritan (i.e. found to have a Samaritan Y-DNA) - although this does not impact their Mt-DNA.
From the above, it is clear that the distribution of HV1b2 is more widespread than previously thought - and is likely older than previously considered, allowing for it to enter several populations throughout the Middle East and the Mediterranean.
I find it significant that HV1b2 is found in numerous Jewish groups from both major diasporas (2 distinct lineages), which could possibly be used as evidence that HV1b2 amongst Jews is derived from the early Levantine Jews of Antiquity.
However, I believe that it is important to also consider the ancient DNA record as modern populations are subject to migrations and other events, bringing DNA markers with them.
For HV1b2 specifically, this Mt-DNA was found in sample I14901, a Medieval Ashkenazi Jew from the site of Erfurt, Germany dated between 1250 CE - 1400 CE (Waldman et al 2022).
In addition, HV1b2 was found in sample JK2896, a Ptolemaic Period Egyptian from Abusir el-Meleq dated between 394–239 BCE (Schuenemann et al 2017).
If we broaden our focus a little bit to look at neighboring branches close to HV1b2, we find that HV1b3 was found in sample I3965, a Canaanite from Hazor, Israel dated between 1800 BCE - 1700 BCE (Agranat-Tamir et al 2020).
Similarly, HV1b3b was found in sample ALA018, an Amorite from Alalakh, Turkey (Hatay province, which is in the Levant) dated between 1497–1326 BCE. (Skourtanioti et al 2020).
Looking at the rest of HV1b, the following ancient DNA samples can be noted:
HV1b1: sample ERS1790732, a Canaanite from Sidon, Lebanon dated to around 1650 BCE (Haber et al 2017).
HV1b1: sample I13980, an East African Pastoralist from Gishimangeda Cave, Tanzania, dated between 776 BCE - 487 BCE (Prendergast et al 2019).
HV1b: sample QED-7, from Qornet ed-Deir, Lebanon dated between 237 CE - 389 CE (Haber et al 2019).
HV1b: sample SI-44, from Sidon, Lebanon dated to the Medieval period (Haber et al 2019).
From the above, with the exception of the Medieval Ashkenazi Jew and East African Pastoralist, many ancient DNA samples found throughout HV1b are from around the Levant region, dating as far back as the Middle Bronze Age (~4000 years).
At the writing of this piece, no ancient DNA samples from the Mesopotamia region have yet been found in HV1b.
Conclusion
In light of all of the above, I believe that the evidence favors HV1b2 amongst Jews being a relic of the Judean founding population, and ultimately stems back to the early Canaanites/Israelites, primarily due to it’s presence in several Jewish communities (2 distinct lines; possible evidence of presence in pre-Diasporic Jews) as well as the ancient DNA record of HV1b being deeply rooted in the Levant amongst groups like the Canaanites and Amorites.
What about the Armenian/Assyrian diversity in HV1b?
Given the ages of HV1b and HV1b-152 being well before the Bronze Age, I believe an ultimate origin of these branches in Mesopotamia remains likely as suggested by Shamoon-pour et al (2019), with some branches staying put (winding up in modern Assyrians and Armenians), and other branches migrating to the Levant (winding up in populations such as the Canaanites, Amorites etc… and eventually Jews).
Another possibility is that HV1b in Armenians and Assyrians could be as a result of gene flow from the Levant to Mesopotamia, as put forward by Herrera et al (2012), however, this study focused on Y-DNA, not Mt-DNA and the diversity of branches would favor the former hypothesis, not the latter.