Paternal and maternal origins of Ashkenazi Jews

Putting a lid on the Khazar myth with uniparentals

This is the fourth and last part of my Khazar special series. Read part I, part II and part III if you haven't already.

Until now, I've mostly focused on autosomal analyses to refute the Khazar narrative by showing the high similarity and overlap between Ashkenazi Jews and other Western Jews (and East Mediterranean populations in general). This means that I’ve dealt with overall ancestry, reflected in all 23 of our chromosomal pairs, and not with any sex-specific chromosomes.

However, sex specific chromosomes - or uniparental lineages - that are passed down through generations from father to son and mother to daughter, can actually offer more direct "proof" of origin and in many cases can complement the autosomal results.

First, lets start with the paternal lineages, or the genetic markers men inherit via their fathers, and their grandfather, and their great great great grandfather, and so on.

To understand why it is of such importance in determining accurate ancestry, lets first understand how it is inherited. Most of the DNA in our body is packed into 23 pairs of chromosomes. The first 22 pairs are matching, meaning that they contain roughly the same DNA inherited equally from both parents. The 23rd pair is different because in men, the pair does not match. The chromosomes in this pair are known as "sex" chromosomes and they have different names: X and Y. Women have two X chromosomes and men have one X and one Y.

Each generation, fathers pass down copies of their Y chromosomes to their sons essentially unchanged. Between generations, the matching chromosomes in the other 22 pairs make contact and exchange segments of DNA. However, the Y chromosome skips this step. Instead, a nearly identical copy is handed down each time.

But, every now and then, small changes to the DNA sequence do occur in Y. These changes, called mutations, create new genetic variants on the Y chromosome. Because the Y does not recombine between generations, these variants collect in patterns that uniquely mark individual paternal lineages. We call these new genetic variants "subclades" of the original Y lineage. And because humans have moved around a lot in history, subclades are important step in actually tracing these migrations. This enables us to establish a direct line of ancestry between populations which seem to no longer originate from the same location, and also clear the picture autosomal DNA gives us.

So for example, while South Italians, Aegean Greeks and Maltese all seem to autosomally overlap with Western Jews, when one compares the latter's paternal lineages, the vast majority of those markers come from the Levant, rather than from South Eastern Europe as in the former.

Here are the proportions of the most common paternal genetic marker groups (called haplogroups) among Lebanese people, divided by the different denominations (source from  here):

And these are the proportions of the most common paternal haplogroups among Ashkenazi Jews:

The comparison makes it clear that Ashkenazi paternal haplogroups as well as their proportions are extremely similar to Lebanese ones. Also, we can test to see if these are also similar to Sephardic paternal haplogroups, considering how we just saw that the two populations - Ashkenazi and Sephardi Jews - overlap in PCAs showing genetic distance between populations:

So it’s quite clear that Sephardic and Ashkenazi paternal haplogroups are very similar to both each other and to modern Levantine populations (especially the Lebanese).

We can compare these paternal haplogroups and their proportions to a number of different populations that probably have some Khazarian ancestry, which we can assume due to the fact that they have lived in the region of the Khazar kingdom for centuries or descend from people which are known to have lived there or to be closely related to them linguistically.

The Khazar language is considered closely related to the Chuvash language and, according to Wikipedia, “Modern Chuvashes claim to descend from Sabirs and Kazan Tatars from the Volga Bulgars.” The tenth century Arab writer Al-Istakhri wrote the following: "the language of the Bulgars is like the language of the Khazars”. Here he meant the Volga Bulgars, from whom the Chuvash seem to be descended.

So let’s compare the haplogroups of the Ashkenazi Jews and Lebanese shown above to the Chuvash people paternal haplogroups, and see how much they resemble each other:

Clearly they are almost nothing alike. There’s also a map of where most of the Chuvash were concentrated, which is in the location where Volga Bulgaria used to be, which was once
ruled by Khazaria, and is close to Khazaria proper.

Kevin Brook, author of the book The Jews of Khazaria (which, as I've mentioned previously, I highly recommend for reliable information about the Khazars), thinks that the North Caucasian Karachay people might be better candidate for claiming descent from the Khazars (you can read his article about the Karachay people at his website Khazaria.com here):

Karachay (meaning "Black River") — also spelled Karachai — are a people living in the North Caucasus....

Some researchers believe the Karachays descend mainly from medieval Kipchaks (Cumans) and Alans. There are also theories according to which the Khazars, Bulgars, and/or Huns helped to form this people.

... about 5.8% of Karachays have the Y-DNA haplogroup R1b1b1.... More common than R1b varieties is R1a1 at about 39% according to the latest results... The "Karachay-Balkar DNA" project includes many ethnic Karachays with R-M459 (part of R1a1) and R-M512 (R1a1a). One each has R-M417 (R1a1a1) and R-Z94 (R1a1a1b2a). G2a is found among Karachays at about 34% and J2a at about 11%.

So judging from their paternal haplogroups distribution, it's quite clear they couldn't possibly be the ancestors of modern Ashkenazi Jews.

Next, let’s also compare Ossetian haplogroups - they are considered by historians as modern descendants of the Alans, a Steppe Iranic people closely related to the Khazars (they got their independence from Khazaria around the 9th century CE):

Again, there is very little similarity.

Now that we’ve finished with the Caucasus’ Iranic people (Ossetians, descended from the Alans) and Fino-Ugric Turkic people (Chuvash people, descended from Volga Bulgars), let’s check Tatars, who are also sometimes considered to be descendants of the Volga Bulgars and other ethnic groups related to the Khazars:

Once again, as expected, there are few similarities in terms of both proportions and actual haplogroups.

Although I think I've made it abundantly clear that the vast majority of Ashkenazi paternal lineages have no discernable Khazar or Turkic origin, proponents of the Khazar hypothesis have often relied on two paternal haplogroups present in Ashkenazi Jews as proof of Khazar ancestry:

• Haplogroup Q-M242 (my own haplogroup), which is found among ~5% of Ashkenazi Jewish men and is a major Central Asian and North Amerindian haplogroup.
• Haplogroup R1a, which is found among ~50% of Ashkenazi Levites and is also very common among peoples from East Europe and the North Caucasus.

While these haplogroups are relatively rare among Ashkenazi Jews, they have nonetheless been used as a smoking gun for paternal East European and Turkic ancestry among Ashkenazi Jews. After all, if you can’t prove that the majority of Ashkenazi Jews are descended from the Khazars, why not at least claim that some Ashkenazi Jews are?

However, this route is yet another dead end for the Khazar hypothesis.

Let’s first discuss haplogroup Q-M242. Do you remember how I mentioned before that subclades are important? Well, although this paternal lineage is primarily concentrated in Central Asians, Turks, and Mongols, it seems that all Ashkenazi Jews which belong to that lineage have been found to belong to a specific subclade that originates in and is shared with other non-Jewish populations native to the Middle East.
This subclade is called Q-M378. It seems to have diverged from its Central Asian parent (Q-M242) around 8,000-12,000 years ago and was carried into Western Asia at that time, thousands of years before the Judeans and Israelites first appeared in the Levant, which for intend and purposes by the time time Jews came to form as a people, could be considered native to Western Asia. More specifically, an additional "child" subclade to Q-M378, subclade Q-L245, is shared among Ashkenazi, non-Ashkenazi Western, and Mizrahi Jews.

On top of this, Ashkenazi Jews seem to all belong to a specific child subclade of Q-L245: Q-Y2232, whose age roughly correlates to when Jews first began leaving the Levant.

To better help you visualize this somewhat complicated subject, I’ve included a branch tree of the Q-M242 Jewish subclades, taken from the Jewish Q FamilyTreeDNA project:

As you can see from this tree, all Western Jews and Mizrahi Jews share the same West Asian branch of Q-M242, which predates the Jewish diaspora and has no traceable or reasonable connection to Khazar ancestry.  The only Jewish exception is among Yemenite Jews, whose Q subclade seems to be related to Arabian ancestry.

Not surprisingly, Eran Elhaik has chosen to ignore the overwhelming evidence and recently, in September 2018, claimed that Ashkenazi Q is of Khazar origin, further dissolving any vague semblance of academic or scientific merit in his studies.

Regarding the R1a subclades that are found in ~50% Ashkenazi Levites, this too turned out to be of West Asian origin. The Ashkenazi subclade of M582 is shared with Near Eastern populations rather than East Europeans. (You can learn more about this here ).

The evidence has spoken loud and clear: the vast majority of paternal lineages found in Ashkenazi Jews seem to originate in the Middle East and are shared with other Western Jews.

Now let’s shift our focus to Ashkenazi maternal lineages. Here the picture is a little bit more complicated.

See while the paternal lineage is passed down through men's Y chromosome, women have no Y chromosome, but two X chromosomes instead. So while that means men always get their mother's X chromosome, the mother herself got one X from her father, and one X from her mother. That means her son has 50% chance to get either the paternal X or maternal X - which essentially means there is no way to trace genealogy this way.

So how could we trace maternal lineages? Well as it turns out, the mitochondria - small structures inside our body cells that turn fuel from the food we eat into energy - carries DNA which is solely passed down from the mother, and grandmother, and great great grandmother, and so on. The reason for this is that when a male sperm cell fertilizes a woman egg, it leaves the part that carries it's mitochondria, which gives it the energy it needs to move and reach the egg, outside of the egg - and so the embryo gets only the mitochondria of the egg cell. Here's an illustration (circled in red is the only part that gets absorbed in the egg, so, as can be seen, no male mitochondria):

We call this DNA marker mtDNA, and it goes relatively unchanged similarly to the Y chromosome in men. And, like Y chromosome, mtDNA also every now and then mutate, and so we have mtDNA subclades, similar to paternal subclades.

So what do we know about Ashkenazi Jews' mtDNA, or maternal lineages? Well, here the picture isn't as simple. In 2013, Costa el al. published the most extensive and in depth study of the maternal origins of Ashkenazi Jews. They found that the majority of 81% of maternal lineages originated in Europe (mostly Southern Europe, but also some from Central and Eastern Europe), 8.3% originated in the Near East, 1.1% of elsewhere in Asia, and 9.9% were too difficult to assign to either Europe or the Near East due to overlap.

Below is a pie chart from that study that clearly distinguishes the different origins of maternal haplogroups among Ashkenazi Jews:

The study also revealed or reiterated several important facts:

• There exist a number of shared maternal haplogroups between Sephardic and Ashkenazi Jews, which demonstrates a common origin for both Western Jewish communities:

"Evidence for haplotype sharing with non-Ashkenazi Jews for each of the three main haplogroup K founders may imply a partial common ancestry in Mediterranean Europe for Ashkenazi and Spanish-exile Sephardic Jews"

• Most maternal uniparental haplogroups in Ashkenazi Jews come from Mediterranean Europe, and there's little to no difference between the various Ashkenazi communities:

"These analyses suggest that the first major wave of assimilation probably took place in Mediterranean Europe, most likely in the Italian peninsula ~2 ka, with substantial further assimilation of minor founders in west/central Europe. There is less evidence for assimilation in Eastern Europe, and almost none for a source in the North Caucasus/Chuvashia, as would be predicted by the Khazar hypothesis8,9—rather, the results show strong genetic continuities between west and east European Ashkenazi communities10, albeit with gradual clines of frequency of founders between east and west"

• Ashkenazi paternal lineages originate in the Levant:

"As might be expected from the autosomal picture, Y-chromosome studies generally show the opposite trend to mtDNA with a predominantly Near Eastern source"

In conclusion, it’s safe to say that the case has been closed from a genetic standpoint, both in terms of autosomal makeup and uniparental lineages.

However extensive Khazar conversion to Judaism may have been, it left virtually no genetic impact on any living Jewish community.

I hope that these entries focused on addressing the Khazar hypothesis have adequately demonstrated that Ashkenazi Jews mostly descend from and still belong among East Mediterranean people; and are extremely closely-related to all other Western Jews—Sephardi, Romaniote, Italian, Syrian, and North African - none of whom are suspected of having any Khazar ancestry.