A MOSAIC OF PEOPLE:
THE JEWISH STORY AND A REASSESSMENT OF THE DNA EVIDENCE
Ellen Levy-Coffman
The Jewish community has been the
focus of extensive genetic study over the past decade in an attempt to better
understand the origins of this group. In
particular, those descended from Northwestern and Eastern European Jewish
groups, known as “Ashkenazim,” have been the subject of numerous DNA studies
examining both the Y chromosome and mitochondrial genetic evidence.
The focus of the present study is to
analyze and reassess Ashkenazi results obtained by DNA researchers and
synthesize them into a coherent picture of Jewish genetics, interweaving
historical evidence in order to obtain a more accurate depiction of the complex
genetic history of this group. Many of
the DNA studies on Ashkenazim fail to adequately address the complexity of the
genetic evidence, in particular, the significant genetic contribution of
European and Central Asian peoples in the makeup of the contemporary Ashkenazi
population. One important contribution
to Ashkenazi DNA appears to have originated with the Khazars, an ancient people
of probable Central Asian stock that lived in southern
Introduction
The word “Jew” has a mosaic of
meanings: it defines a follower of the Jewish faith, a person who has at least
one Jewish parent, or a member of a particular ethnic group (“Jewish”). There are many Jews who do not practice
Judaism as a religion but define themselves as “Jewish” by virtue of their
family’s heritage and identification with the culture and history of the Jewish
people.
Thus, Judaism is a mosaic of
culture, religion, ethnicity, and for some, a way of life. It is an identity that is not quite a
nationality, but neither is it a simple ethnic or cultural phenomenon
either. This unusual combination of
characteristics, coupled with Jewish resistance over the centuries to
assimilation and strong adherence to their religious faith, has contributed to
the intense feelings of curiosity, hatred, admiration, attraction and hostility
by the rest of the world.
Received:
Address for correspondence: Ellen Coffman, Ellenlevy66@yahoo.com
Early on, the unique history of the
Jews attracted DNA researchers who sought to solve the mystery of the origins
of the Jewish people. Researchers had
previously relied on linguistic, anthropological and archaeological evidence to
try to address this question; genetic genealogical research has opened up a new
area for researchers to explore.
One question the DNA studies sought
to answer was whether the genetic ancestry of contemporary Jewish populations
demonstrated, to any degree, their supposed descent from the ancient Israelites
of the
This paper represents a new
examination and reassessment of the Jewish DNA studies to date, presenting
possible alternative explanations for the origins and distribution of certain
genetic markers among Jewish populations, and in particular, among the group of
Jews known as “Ashkenazim.”
Recent genetic research has greatly
expanded our understanding of the probable origins and distinct geographic
patterns of certain groups of people, including Jews. This recent research has superceded some of
the earlier studies on Jewish DNA, allowing a reassessment of the theories of
Jewish origins in light of this new research.
The new analysis shows that Jewish
ancestry reflects a mosaic of genetic sources.
While earlier studies focused on the Middle Eastern component of Jewish
DNA, new research has revealed that both Europeans and Central Asians also made
significant genetic contributions to Jewish ancestry. Moreover, while the DNA studies have
confirmed the close genetic interrelatedness of many Jewish communities, they
have also confirmed what many suspected all along: Jews do not constitute a
single group distinct from all others.
Rather, modern Jews exhibit a diversity of genetic profiles, some
reflective of their Semitic/Mediterranean ancestry, but others suggesting an
origin in European and Central Asian groups.
The blending of European, Semitic, Central Asian and Mediterranean heritage
over the centuries has led to today’s Jewish populations.
In examining Y chromosomal diversity
in this review, two types of data are considered: Single Nucleotide
Polymorphisms (SNPs), and Short Tandem Repeat Loci (STRs). STR markers are characterized by mutation
rates much higher than those seen with SNPs.
SNPs, on the other hand, are derived from rare nucleotide changes along
the Y chromosome, so-called unique event polymorphisms (UEP). These UEPs represent a single historical
mutational event, occurring only once in the course of human evolution. UEPs have been given a unified nomenclature
system by the Y Chromosome Consortium (2002), resulting in the identification
of each UEP with a particular haplogroup.
While I examine both types of Y
chromosome data, I rely primarily on SNP data due to its increasing use by
researchers as a tool in reconstructing the peopling of the world. Research on the diversity and geographic
patterns of haplogroups have provided researchers with a greatly expanded
understanding of prehistoric movements of people and a means of better
understanding the present-day genetic variation among populations. Research with STR “haplotypes” is also
occasionally discussed in this paper, particularly in light of its ability to
demonstrate a high rate of endogamy, genetic drift, and founder effects among
Jewish populations.
Examination of mitochondrial DNA, on
the other hand, is based on the combined polymorphisms of the control region
(hypervariable segments I and II, or HVSI and HVSII) along with specific SNPs
in the coding regions of DNA found in the mitochondria. Both males and females have mtDNA, which they
have inherited from their mothers, whereas Y chromosome DNA is found only in
males and is inherited directly from their fathers.
Like the Y chromosome data, mtDNA
sequences are sorted into major phylogenetic haplogroups as well. Recent analysis on both mtDNA and Y
chromosome SNPs have allowed researchers to further divide many haplogroups
into sub-branches, known in the DNA literature as “sub-clades.” The geographic distribution of mtDNA
haplogroups and their sub-clades also adds to our understanding of
relationships of groups of people, including Jewish populations.
The Birth of European Judaism
This section is intended to provide
the reader with a brief history of the Jews in Europe as well as define terms
used frequently in the Jewish DNA studies, such as “Diaspora,” “Sephardim,” and
“Ashkenazim.” Furthermore, since Jews
appear to have both Israelite/Middle Eastern and European genetic ancestry, an
understanding of the Jewish experience in
The birth of European Judaism begins
with the Diaspora. “Diaspora” is a term
derived from the Greek work meaning “scattering.” While the word was originally used by ancient
peoples to identify any group that was exiled or resettled from their homeland,
the term has now become particularly associated with the Jewish exile from
ancient
The Jews resettled in many distant
lands, even as far as
Contemporary Jewry is comprised of
approximately 13 million people, of whom 5.7 million live in the
The history and genetic ancestry of
Sephardic Jews is dealt with in only a cursory fashion here. There have been only very limited genetic
studies on Jews of Sephardic descent, while in contrast, many DNA studies have explored
the genetic ancestry of Ashkenazi Jews.
Thus, the primary focus of this work is on Ashkenazim DNA results, but
also included is a comparison of Sephardic and Ashkenazi results pertaining to
Y chromosome haplogroups J and E.
The word “Ashkenazi” is derived from
the Hebrew word for
While the Jews of today are
connected historically and religiously to the Jews of ancient
The
While the Canaanites were a Western
Semitic people indigenous to the area, they appear to have consisted of a
diverse ethno-cultural mix from the earliest times. It is from this diverse
group that the evolution of the Israelites occurred. Although little is known about these groups,
they probably included some of the following populations:
(Dever 2003,
pp. 219-220).
While the Israelite kingdom clashed
with a number of world powers over the centuries, including
Ironically, however, many scholars
believe the Ashkenazi population probably had its earliest roots in
By the first century, however, the
Jewish Diaspora had already spread to a number of regions of the world, many of
which may have contributed to the make-up of the early Ashkenazi Jewish
community. These include the Aegean Island
of Delos,
By 600 CE, Jews were present in many
parts of
By the 12th-13th
centuries CE, Jews were expelled from many countries of
The DNA Evidence for Israelite Ancestry:
The Jewish Priests and Cohanim DNA Study
The search for Israelite/Middle
Eastern DNA among contemporary Jewish populations properly begins with Dr. Karl
Skorecki’s landmark genetic study of the Cohanim, the priests of the Jewish
religion. The study came about based on
the following story:
Dr. Skorecki, a Cohen of Eastern
European descent (Ashkenazim), was attending synagogue one morning. During the service, a Cohen of Sephardic
descent from
Dr. Skorecki, a nephrologist already
involved in molecular genetic research, contacted Dr. Michael Hammer of the
Not only did the genetic researchers
corroborate the oral history of an ancient Jewish priestly caste, but they also
confirmed the genetic link between both Sephardic and Ashkenazi populations,
indicating that before the two populations separated, those who shared the CMH
also shared common Israelite ancestry.
Today, the CMH is considered not only the standard genetic signature of
the priestly Cohanim, but also the yardstick by which all Jewish DNA is
compared for determination of Israelite genetic ancestry. Thus, if a haplogroup is not shared by both
Sephardim and Ashkenazim at a similar frequency, then it is generally not
considered to be of Israelite origin.
Skorecki and Hammer reported that
the CMH occurred within Y chromosome haplogroup J (Skorecki et al. 1997). We now know significantly more about
haplogroup J than when these studies were originally published. Haplogroup J consists of an ancestral form
(J*) and two subgroups – J1 and J2.
Although you can have the CMH in either J1 or J2, it is the genetic
signature in J1 that is considered the Jewish priestly signature.
What is not widely reported is that
only 48% of Ashkenazi Cohanim and 58% of Sephardic Cohanim have the J1 Cohen
Modal Haplotype (Skorecki et al. 1997). So
nearly half of the Ashkenazi Cohanim results are in haplogroups other than
J1. Overall, J1 constitutes 14.6% of the
Ashkenazim results and 11.9% of the Sephardic results (Semino et al. 2004). Nor is Cohanim status dependent on a finding
of haplogroup J1.
Additionally,
many other haplogroups among the Ashkenazim, and among the Cohanim in
particular, appear to be of Israelite/Middle Eastern origin. According to Behar (2003), the Cohanim
possess an unusually high frequency of haplogroup J in general, reported to
comprise nearly 87% of the total Cohanim results. Among the Sephardim, the frequency of 75% is
also notably high (Behar 2003). Both
groups have dramatically lower percentages of other haplogroups, including
haplogroup E. Given the high frequency
of haplogroup J among Ashkenazi Cohanim, it appears that J2 may be only
slightly less common than J1, perhaps indicating multiple J lineages among the
priestly Cohanim dating back to the ancient Israelite kingdom.
However, J1 is the only haplogroup
that researchers consider “Semitic” in origin because it is restricted almost
completely to Middle Eastern populations, with a very low frequency in
Table 1 compares the Jewish J1 CMH
to the J1 modal haplotypes of other Middle Eastern populations:
Table 1
Modal Haplotypes* in J1 Populations
|
J1 GROUPS |
D Y S 0 1 9 |
D Y S 3 8 8 |
D Y S 3 9 0 |
D Y S 3 9 1 |
D Y S 3 9 2 |
D Y S 3 9 3 |
|
CMH |
14 |
16 |
23 |
10 |
11 |
12 |
|
Bedouin |
14 |
15 |
23 |
10 |
11 |
13 |
|
Palestinian |
14 |
17 |
22 |
11 |
11 |
13 |
*6-Locus Haplotype.
Researchers believe that marker
388=17 is linked with the later expansion of Arabian tribes in the southern
The Cohanim study was widely
misinterpreted by the public as indicating that all Jews were in haplogroup J
and had the CMH. Furthermore, many
non-Jews in haplogroup J mistakenly believed that they must have some Jewish
ancestry hidden in their past to explain their DNA results. As it turned out, most non-Jews were in
subgroup J2 rather than J1 (Semino et al. 2004). Interestingly, Jews were later found to have
as much J2 ancestry as J1.
The misinterpretation of the Cohanim
results was damaging in some ways to the wider understanding of Jewish genetic
ancestry. For example, one widely
published media quote went like this: “This genetic research has clearly
refuted the once-current libel that Ashkenazi Jews are not related to the
ancient Hebrews, but are descendants of the Kuzar (sic) tribe – a pre-10th
century Turko-Asian empire which reportedly converted en masse to Judaism.”
Further, it was claimed that “[r]esearchers compared the DNA signature
of the Ashkenazi Jews against those of Turkish-derived people, and found no
correspondence” (Kleinman 1999).
However, it would soon become very
clear that Jewish DNA was much more complicated than was presented by the media
in their reporting of the Cohanim data.
And Jewish Khazarian ancestry would come to the public’s attention yet
again when another DNA study was conducted, this time on the Jewish priestly
group known as the Levites.
The Khazars: A Jewish Kingdom in
Author Arthur Koestler (1976) is
generally credited for bringing the unique history of the Khazars to the
attention of the public. The decades
that have past since the publication of his book have not dampened its highly
controversial nature.
The country of the Khazars lay in
the area between the Black and
The rationale behind such conversion
continues to both puzzle and fascinate historians – why would a people, despite
political pressure from two great powers, chose a religion which had no support
from any political power, but was rather persecuted by all? Whatever the reason, the Jewish Khazars
continued to rule their kingdom until the 12th-13th
century, when their empire finally dissolved.
The fate of the Khazars after the fall of their empire remains a subject
of great controversy among researchers.
The Khazars are often described as
“a people of Turkish stock,” although such description is misleading (Koestler
1976, p. 13). Although the Khazars spoke
a Turkish dialect believed to be related to that spoken today by the peoples of
the
Given that the Khazarian kingdom
arose in the area of today’s
According to an 11th century
Arab chronicler Ibn-al-Balkhi, the Khazars are
. . . to
the north of the inhabited earth towards the 7th clime, having over
their heads the constellation of the Plough.
Their land is cold and wet.
Accordingly their complexions are white, their eyes blue, their hair
flowing and predominately reddish, their bodies large and their natures
cold. Their general aspect is wild” (Koestler
1976, p. 19). An Armenian writer
described them as having “insolent, broad, lashless faces and long falling
hair, like women. (Koestler 1976, p. 20).
A slightly more flattering picture
is provided by Arab geographer Istakhri:
The Khazars do not resemble the Turks. They are black-haired, and are of two kinds,
one called the Kara-Khazars [Black Khazars] who are swarthy verging on deep
black as if they were kind of Indian, and a white kind [Ak-Khazars], who are
strikingly handsome.
(Koestler 1976, p. 20)
However, Koestler (1976, p. 22) cautions
the reader not to place too much weight on this description, since it was
customary among Turkish peoples to refer to the ruling classes as “white” and
the lower clans as “black.”
It is clear that the Khazars were
closely connected to the Huns, who themselves are an ethnic mystery. The Byzantine rhetorician Priscus, who was part
of an embassy to Attila the Hun’s court in 448 CE, reported that a people known
as the “Akatzirs” or “White Khazars” were subjects of the Huns. According to Koestler (1976, p. 23),
“Priscus’s chronicle confirms that the Khazars appeared on the European scene
about the middle of the fifth century as a people under Hunnish sovereignty,
and may be regarded, together with the Magyars and other tribes, as a later
offspring of Attila’s horde.” After the
collapse of the Hunnish Empire following Attila’s death, the confederation of
tribes known as the Khazars eventually gained supremacy in the southern half of
Eastern Europe, retaining control of this region for nearly four centuries.
What became a matter of dispute
among historians was the fate of the Jewish Khazars after the destruction of
their empire in the 12th- 13th centuries. Koestler argued that remnants of the Khazar
tribes migrated into regions of
With the advent of DNA studies, the
question of whether contemporary Jews could trace any part of their ancestry
back to the Khazars became a tantalizing mystery to try to solve. While the Cohanim DNA writers attempted to
close the book on this question, evidence from another important genetic study,
that of the Jewish Levite priests, made it apparent that the Khazarian debate
was far from over.
The Levites: The DNA of the Jewish Khazarian Priests
The other Jewish priestly caste is
known as the “Levites.” Like the
Cohanim, Levites are recorded in the Hebrew Bible as direct descendants of
In the second study published on the
Cohanim, researchers reported that despite a priori expectations, Jews who
identified themselves as Levites did not share a common set of markers with the
Cohanim (Thomas et al. 1998). Unfortunately,
the reporting that the Levites did not share a genetic signature from a common
patrilineal ancestor with the Cohanim flew in the face of Jewish tradition.
This led to some rather bizarre and disparaging explanations, like the
following from Rabbi Yaakov Kleiman (1999) in Jewish Action:
It is interesting to note that the tribe of Levi has
a history of lack of quantity…After the Babylonian exile, the Levi’im (plural)
failed to return en masse to Jerusalem, though urged by Ezra the Scribe to do
so (They were therefore fined by losing their exclusive rights to maser.). Though statistically, the Levi’im should be
more numerous than Cohanim, in synagogues today it is not unusual to have a
minyan with a surplus of Cohanim, yet not one Levi.
In point of fact, the Levites were
shown to have a common set of genetic markers – just not the CMH. These markers were not even part of the same
J1 haplogroup as found in the Cohanim. The
majority of Levites shared a common haplotype, indicating a shared common
ancestor among them, but this haplotype occurred within haplogroup R1a and,
more specifically, within subgroup R1a1.
Furthermore, this haplogroup was found only in the Ashkenazi Levites; it
was not shared with the Sephardic Levite population in the same fashion as the
CMH. Given the fact that the Ashkenazi
Levites did not share R1a with their Sephardic counterparts, it appeared that
this haplogroup had entered the Jewish population sometime during the Diaspora.
In one of the first studies to
closely examine the high levels of R1a among Levites, researchers found that
R1al formed a “tight cluster” within the Ashkenazi Levites (Behar et al. 2003). This suggested to the researchers a very
recent origin of this group from a single common ancestor (Behar et al. 2003).
In a subsequent Levite study, the
modal haplotype reported for Ashkenazi R1a1, known as “H6,” was reported to
occur twice as often as the second most common R1a1 haplotype among Ashkenazim,
known as “H10” (Nebel et al. 2005). Out of a sample of 55 individuals, 25 had
haplotype “H6” and 12 had haplotype “H10” (Nebel et al. 2005, Supplementary
Material).
Table 2
Haplotypes* for Ashkenazi R-M17
|
HAPLOTYPE |
D Y S 0 1 9 |
D Y S 3 8 8 |
D Y S 3 9 0 |
D Y S 3 9 1 |
D Y S 3 9 2 |
D Y S 3 9 3 |
|
H6 |
16 |
12 |
25 |
10 |
11 |
13 |
|
H10 |
15 |
12 |
25 |
10 |
11 |
13 |
*6-Locus Haplotype
Behar believed that among Ashkenazi
Jews, R1a1 was essentially restricted to Levites. However, we know from subsequent research
that R1a1 comprises nearly 12% of Ashkenazi results, while the Levites only
make up about 4-5 % of the Jewish people (Nebel et al. 2005). Thus, these results extend well beyond the
Levite priestly class to approximately 5-8% of the Cohanim and Israelites (the
non-priestly Jewish population) as well.
Haplogroup R1a1 is relatively rare
within Middle Eastern populations, but very common among Eastern European and
Scandinavian populations (Behar et al. 2003).
It is found at a frequency of 7% in some Near Eastern groups (Behar et
al. 2004b). However, given that
Sephardic groups did not share R1a1 frequencies with the Ashkenazim, it was
apparent that Jewish R1a1 was probably not of ancient Israelite origin.
Confirmation of the high frequency
of Haplogroup R1a1 among Ashkenazim as compared to other Jewish and non-Jewish Middle
Eastern populations was found in a genetic study on Samaritan and Israeli
groups (Shen et al. 2004). Although population samples were small, consisting
of twenty participants from Ashkenazi Jewish groups, all were Eastern
Ashkenazim of Polish ancestry. Ashkenazi
results were compared to other Jewish groups from
As for when R1a1 first entered the
Jewish community, Behar (2003) estimated a mean TMRCA (time to the most recent
common ancestor) of 663 years before the present using the Simple Stepwise
Mutation Model and a mean time of 1,000 years before present under the Linear
Length-Dependent Stepwise Mutational Model.
This calculation was striking because it fit precisely within the time
period that Koestler believed the mass migration and absorption of the Khazars
by the larger Eastern European Jewish communities occurred.
R1a1 is found in very high
frequencies not only in the area of Eastern Europe where the Khazarian kingdom
is reported to have existed, but also in many Central Asian populations as
well, where some of the Khazarian population may have originated (Nebel et al.
2005). Furthermore, the most common
Ashkenazi haplotype, H6, is identical to the most common haplotype found among
European R1a1 (YHRD 2003). Ashkenazi H10
is identical to the fifth most common European R1a1 haplotype.[1]
Behar (2003) noted that Ashkenazi R1a1
haplotypes clustered closely with those seen in Sorbian and Belarusian groups
in
Nebel (2005) emphasized that the R1a1
haplogroup must have entered the Jewish gene pool from outside sources because
the ancestral haplotype (H6) is almost completely absent in Sephardic Jews,
Kurdish Jews and Palestinian population samples. He suggested that R1a1 in Ashkenazim “may
represent vestiges of the mysterious Khazars.” However, he also argued for a
single founder event early on in the Jewish Diaspora, proposing that the TMRCA
for R1a1 among Ashkenazi was approximately 62.7 generations ago, or 1567 years
ago.
However, the proposal that R1a1
originated with a single founder event early in the Diaspora has become
increasingly unlikely as research on Jewish DNA progresses. Since R1a1 is spread fairly evenly in
haplotype distribution and frequency throughout the Ashkenazi populations from
various countries (Germany, Lithuania, Czechoslovakia, Hungary, Romania,
Poland, Russia and the Ukraine), then the founders must have entered the
community either before it expanded and spread to Eastern Europe, or merged
separately into both eastern and western Ashkenazi groups. However, Nebel (2005) is forced to assert an
extremely early TMRCA due to his belief that R1a1 must have originated with a
single founder or very small group of founders.
In order for R1a1 to reach its high frequency (12%) among the Ashkenazim
from a single founder, a very early date must be proposed for the introgression
of this haplogroup. Under this scenario,
R1a1 entered the Jewish community when it was extremely small and in its
formative stage. Gene flow from a single
R1a founder at this early stage would likely have a huge impact on the
expanding Ashkenazi population.
However, it appears that the most
recently revised mutational dating techniques lend support to Behar’s (2003) later
date when applied to Jewish R1a1 haplotypes.
If we assume that R1a1 entered the Jewish community around 1300 CE, then
there would need to be enough founders to leave a 12% genetic impact on the
population. Given that the Ashkenazi
population at that time is estimated to be approximately 25,000 persons, it
would be nearly impossible for a single founder to make such a significant
genetic impact (Behar et al. 2004b). Adopting
this conservative estimate of 25,000 persons, approximately two to three
thousand R1a1 males probably entered the Ashkenazi community between the
12th-13th centuries.
Interestingly, there are no
historical accounts of any large scale conversions or Eastern European groups
entering the Jewish community at this time – except the Khazars.
Additionally, given the relatively
late date of introgression and the large number of founders, these males must
have already been very closely related to each other, sharing the R1a1
haplotypes that are later reflected in the Levite results. Behar (2003) noted that the lack of Levite
R1a1 haplotype diversity suggested that all the founding lineages were very
closely related to each other if, in fact, a large number of founding lineages
contributed to the Levite R1a1 gene pool.
The ancient reports on the Khazars indicate that the majority of the
Jewish converts were from the Khazarian royalty and ruling classes (Koestler
1976, p.15). Although speculative, it
seems likely this group would have intermarried heavily amongst itself, helping
to preserve the group’s elite status. Thus, it is probable that they would have already possessed a set
of closely related R1a1 haplotypes which they simply passed on to their Levite
descendants.
Most importantly, the fact that
these R1a1 founders were endowed with Levite status is highly revealing. Behar (2003), in fact, argues against the
possibility of a large number of R1a founders because it would involve a breach
of “a well-regulated rabbinically controlled barrier” and would “most likely
leave some prominent trace in the historical record – which it has not.” However, he then suggests that the R1a
introgression may indicate a lesser degree of stringency for the assumption of
Levite status than for the assumption of Cohen status. He points to a passage in the Talmud
involving a debate over whether Levite status should be accorded to a man whose
father was a non-Jew and who mother was the daughter of a Levite. This suggests that assignment of Levite
status other than through patrilineal descent could have been sanctioned by the
rabbinical authorities.
However, the Khazars were already
Jewish, having converted hundreds of years before. Although of a different ethnic make-up than
the Ashkenazim of the 13th century, they were not “non-Jews.” They probably already had their own Levite
caste in place who may have simply continued their priestly functions among the
Ashkenazim.
Integration into the Levite
priesthood would have secured for the Khazarian immigrants a place in their new
community while helping them maintain a sense of elite status among a new
people. Yet it is clear that the Khazars
had become Jews long before they became part of the larger Ashkenazi
community. Thus, it should not be
surprising that six hundred years after their reported conversion, the
Ashkenazim may have accorded them a special role among their Levite priesthood.
The Khazars and the Smoking Gun of Haplogroup Q
With the discovery of haplogroup Q
among Ashkenazi Jews, DNA researchers may have found the “smoking gun” of
Khazarian ancestry.
In one of the few DNA studies to
examine haplogroup Q among Jews, researchers made the surprising declaration
that only 5-8% of the Ashkenazi gene pool is comprised of Y chromosomes that
originated from non-Jewish European populations (Behar et al. 2004b). But since subsequent research has confirmed
that R1a1 alone comprises nearly 12% of the Ashkenazi gene pool, it now appears
that Behar’s estimate is much too low.
Additionally, Behar’s (2004b, Supplementary Material) own data indicate
that haplogroups R1b, R1a and I comprise more than a quarter of Ashkenazi DNA
results.
As for haplogroup Q, Behar (2004b) states
that it is a “minor founding lineage” among the Ashkenazim, but does not
discuss it any further in the study.
Haplogroup Q appears in 23 out of 442 Ashkenazi results in Behar’s
study, or approximately 5% of the total results (Behar et al. 2004b,
Supplementary Material). Interestingly,
out of 50 non-Jewish Hungarian results also appearing in this study, haplogroup
Q did not appear at all (Behar et al. 2004b, Supplementary Material).
The modal haplotype for Ashkenazi Q
is shown in Table 3:
Table 3
Ashkenazi Q-P36 Modal Haplotype*
|
D Y S 0 1 9 |
D Y S 3 8 8 |
D Y S 3 8 9 i |
D Y S 3 8 9 ii |
D Y S 3 9 0 |
D Y S 3 9 1 |
D Y S 3 9 2 |
D Y S 3 9 3 |
D Y S 4 2 6 |
D Y S 4 3 9 |
|
13 |
12 |
13 |
16 |
22 |
10 |
15 |
13 |
12 |
16 |
*
10-Locus Haplotype
Approximately 19 out of the 23 Q
results exhibited the above haplotype, with 3 additional results being a single
step mutation away on DYS marker #393 (Behar
et al. 2004b, Supplementary Material). In
fact, so many identical haplotypes makes it difficult to accurately date
Ashkenazi Q, since using a TMRCA calculation indicates these Ashkenazim, both
eastern and western groups, could be related within the last hundred
years. This, however, seems highly
unlikely, given the separation between these populations over the last few
hundred years.
By designating Q a “minor founding
lineage,” Behar (2004b) places this group among “those haplogroups likely to be
present in the founding Ashkenazi population.”
However, given that Haplogroup Q is rarely found in Middle Eastern
populations in DNA studies, the likelihood that Q can be attributed to
Israelite ancestry seems remote. The
presence of Haplogroup Q among all Ashkenazi groups indicates the founders of
this group either mixed with a number of separate Ashkenazi populations or,
more likely, entered to the Ashkenazi population in western Europe in a similar
fashion to Haplogroup R1a1, before the Ashkenazi migrated in large numbers
eastward in the 13th-14th centuries.
The extremely low haplotype
diversity of Ashkenazi Q supports the argument of a small number of
closely-related founders merging with the Ashkenazim while they still resided
primarily in
Haplogroup Q is rare in European
populations as well. It occurs in low
percentages in
David Faux, a researcher examining
the Shetlander’s DNA and possible Central Asian links, notes the following:
The best evidence we have to date is that, although
not investigated scientifically, that Q and K* arrived with R1a from the same
population source in the Altai region of Russian
Faux further hypothesized that the
homeland of Norse Q lies somewhere in the populations of
Haplogroup K* also appears among
Ashkenazim, though this group is rarely discussed in the DNA literature. Behar
(2004b, Supplementary Infor-mation) found 2-3% among Ashkenazi Jews. Behar identifies this group as K*-M9, though
they may, in fact, be within Haplogroup K2, since they closely match the K2
haplotypes reported among Turkish groups (Cinnioglu 2004). The appearance of Haplogroup K* only among
eastern Ashkenazim may be attributable to Eastern European or Khazarian
admixture (Behar 2004b, Supplementary Material). Interestingly, Ashkenazi K* exhibits more
haplotype diversity than haplogroup Q results, perhaps indicating a larger
percentage of unrelated K* founders or genetic drift.
However,
Behar (2003) reports finding a significantly higher frequency of haplogroup K*
among Sephardic Levites (23%) and Sephardic Israelites (13%), perhaps the
highest frequency of K* found among any European population. This may indicate that some of Ashkenazi K*
is, in fact, of Israelite origin. Its
absence among western Ashkenazim and very low frequency among eastern
Ashkenazim suggests that the high frequency of Sephardic K* may be due to
pronounced genetic drift or significantly more K* founders as part of the
original Sephardic population. However, it is also possible that Sephardic K*
is the result of admixture with African or
A comparison of haplogroup Q among
Altaians and Ashkenazi Jews was undertaken by Dienekes Pontikos (2004), who
operates a respected website dedicated to the examination of anthropological,
archaeological and genetic research. He
compared the frequency of haplogroups R1a and Q among Altaian Turkic speakers
and Ashkenazi Jews. For Altaians, the
percentages are 46/17, or a ratio of about 2.7, while in Ashkenazim it is 12/5,
or a ratio of about 2.4. Dienekes
writes:
If Proto-Khazars were similar to present-day Altaians
minus haplogroup C, then they would have a frequency of about 59% R1a and 22%
Q. Therefore, it seems reasonable that
an overall 5/22=22% of such Proto-Khazar elements into the Ashkenazi Jewish
populations may be likely. But, the
Khazars of Khazaria may themselves have been somewhat mixed with Western
Eurasian elements, which would decrease their frequency of haplogroup Q.
Dienekes (2004) also wrote that he
found the continued silence of researchers about the presence of haplogroup Q
among Ashkenazim “puzzling.”
Haplogroup Q is found in high
frequencies in only a few regions of the world.
Native American’s possess very high percentages of Q, particularly a
sub-group known as “Q3” (Zegura et al. 2004). But haplogroup Q did not originate among the
Native Americans, nor did this population obtain their Q ancestry from Jewish
or Scandinavian ancestors. As previously
noted by Faux, its origins probably lie somewhere in northern
Genetic analysis has allowed
researchers to trace Native American haplogroup Q to its probable ancestral
homeland – the Altai Mountains of Southwest Siberia (Zegura et al. 2004). The researchers have also pointed out that
the Kets and Sekups, who currently inhabit the eastern part of Western Siberia
and the Yenisey River Valley, can trace
their origin homeland further south, on the slopes of the Altai mountains (Zegura
et al. 2004). This region is, of course, where Faux postulated that
In conclusion, it appears that some
members of three very distinct populations—Scandinavian-Shetlanders, Native
Americans and Ashkenazi Jews–may share common ancestors originating from the
Altai regions of southern Siberia.
However, the Q ancestors of the Native Americans appears to have
departed from their Altai homeland much earlier than the other two groups,
migrating to the New World sometime between 10,000 to 17,000 years ago,
providing sufficient time for the Native Americans to develop their own unique
subgroup of Q, known as Q3 (Zegura et al. 2004).
The migration of R1a and Q groups
into
Possible Other Israelite Y-Haplogroups: J, E and G
Previously, the presence of Haplogroups
J, E3b, and G among Jews was interpreted as additional evidence of Middle
Eastern or Israelite ancestry in much the same fashion as the Cohanim Modal
Haplotype. However, recent studies
demonstrate that their origin is uncertain.
Unfortunately, misinformation about
these haplogroups continues to pervade the public and media. Haplogroup E3b is often incorrectly described
as “African,” leaving a misimpression regarding the origin and complex history
of this haplogroup. Haplogroup J2, as
previously discussed, is often incorrectly equated with J1 and described as
“Jewish” or “Semitic,” despite the fact that it is present in a variety of
non-Jewish
Haplogroup G Among Jews
Lack of reported data regarding
haplogroup G is surprising given that it is found in approximately 9% of
Ashkenazi Jews, with G-M201* consisting of the great majority of those results
(Behar et al. 2004b, Supplementary Material).
Behar (2004b) considers G-M201* a “minor founder haplogroup” likely to have
been present in the founding Ashkenazi population due to its very low frequency
among non-Jewish Europeans. It is
unclear whether Behar’s G-M201* indicates G* results rather than sub-group G1,
though this seems unlikely given the lack of G* reported in the
Table 4
Modal Haplotype* of Ashkenazi G-M201*
|
D Y S 0 1 9 |
D Y S 3 8 8 |
D Y S 3 8 9 i |
D Y S 3 8 9 ii |
D Y S 3 9 0 |
D Y S 3 9 1 |
D Y S 3 9 2 |
D Y S 3 9 3 |
D Y S 4 2 6 |
D Y S 4 3 9 |
|
15 |
12 |
14 |
18 |
23 |
10 |
11 |
13 |
11 |
15 |
* 10-Locus Haplotype (Behar et al. 2004b,
Supplementary Material)
Haplogroup G2 (G-P15) is present in
both Jewish and non-Jewish European groups (Behar et al. 2004b). Although G2 is found in
Haplogroup
E3b Among Jews
An examination of recent DNA studies
clarifies the probable origins and history of Haplogroup E3b among Jewish
populations. One important study by
Cruciani explores and refines the origins and distribution patterns not only of
E3b, but of the entire E haplogroup (Cruciani et al. 2004).
Researchers discovered that various
branches and sub-branches of haplogroup E had very different evolutionary
histories and distinct migration patterns (Cruciani et al. 2004). Two branches, E1 and E2, are found
predominately in
Although E3b arose in
It appears that E-M78 migrated from
the
However, another cluster of E-M78,
known as the “delta cluster,” appears to have migrated to
In a study that presented
frequencies of haplogroups J and E among various groups, including both
Ashkenazi and Sephardic populations,
researchers found 14 out of 77 Ashkenazim (18.2%) were E3b, while 12 out
of 40 Sephardim were E3b (30%). (Semino
et al. 2004). Ashkenazim were also
reported to have a frequency of 5.2% of E-M78, while Sephardim had 12.5%. Yet
the providence of this sub-clade among Jews continues to remain
unresolved. It is possible that
Ashkenazi E-M78 is the result of multiple sources. Only further testing of E-M78 among Sephardic
and Ashkenazi groups will determine which of Cruciani’s clusters Jewish groups
belong to and whether Ashkenazi and Sephardic groups share similar E-M78
ancestry. However, the fact that Behar (2004b,
Supplementary Material) found E-M78 to be much more prevalent among eastern
versus western Ashkenazim (10 out of 12 results) argues in favor of admixture
with Greek, Italian, Balkan or Eastern European populations. It is also possible that the origin of this
sub-clade among Ashkenazim is attributable to Khazarian ancestors.
The higher frequency of E-M78 among
Sephardic groups may be the result of pronounced genetic drift, or more likely,
gene flow from North African and Spanish populations. The likelihood of European and North African
gene flow is further supported by the fact that another sub-clade, E-M81,
occurs only among Sephardim (Semino et al. 2004). It is also found in very high percentages
among North Africans. Its frequency
among the Sephardim at 5% is comparable to that seen in Spanish populations,
again suggesting possible gene flow from Spanish and Berber populations into
Sephardic groups.
Behar (2004b) deemed sub-clade
E-M35* a “major founding lineage” among Ashkenazim. But according to Semino (2004), E-M35* only
occurs among 1.3% of Ashkenazim and among 2.5% of Sephardim. Behar, on the other hand, reports finding
E-35 at a frequency of 7.1% among Eastern European Ashkenazim, versus 19.1%
among Ashkenazim in the west. Not only
do Behar’s figures contrast sharply with that found by Semino, but Behar also
apparently discovered a significant difference in the frequency of this
sub-group between eastern and western Jews.
The discrepancy between Behar and Semino’s results may be attributable
to Behar including sub-clade E-M123 results within his larger E-M35
category. The fact that E-M123 does not
appear separately as part of Behar’s data suggests that he did, in fact,
combine these sub-clades into a single category.
In fact, the best candidate for possible
E3b Israelite ancestry among Jews is E-M123.
This sub-clade occurs in almost the same proportions (approximately
10-12%) among both Ashkenazim and Sephardim (Semino et al. 2004). According to Cruciani (2004), E-M123 probably
originated in the
As for E-M35*, Semino (2004) did not
find this group in either the Lebanese or Iraqi samples. Nor did Cruciani (2004) find it in any of his
Middle Eastern samples. It is present,
however, in East and North African samples; for example, it occurs in about
7.9% of Berber tribesmen from north-central
Haplogroup
J2 Among Jews
Haplogroup J2 among Jews has been
erroneously interpreted in the past as exclusively “Israelite” or “Middle
Eastern” in origin. Among Ashkenazim, J2
occurs among 23.2% of the population, while Sephardim have 28.6% (Semino et al.
2004). While these percentages are
nearly identical to Iraqi (22.4%) and Lebanese (25%) groups, they are also
comparable to Greek (20.6%), Georgian (26.7%), Albanian (19.6%), Italian
(20-29%), and to a lesser extent, French Basque (13.6%) populations (Semino et
al. 2004).
Although J2 is a close cousin to J1,
it is characterized by the M172 mutation, while J1 is characterized by the M267
mutation. These two branches of
haplogroup J formed in neighboring but different regions of the world. The ancestral J group (J*) is very rare and
has only been observed in small numbers in the Balkans,
One of the first DNA studies
exploring haplogroup J among Jewish groups found the following:
The investigation of the genetic relationship among
three Jewish communities revealed that Kurdish and Sephardic Jews were
indistinguishable from one another, whereas both differed slightly, yet
significantly, from Ashkenazi Jews. The
differences among Ashkenazim may be a result of low-level gene flow from
European populations and /or genetic drift during isolation…Jews were found to
be more closely related to groups in the north of the Fertile Crescent (Kurds,
Turks, and Armenians) than to their Arab neighbors. (Nebel et al. 2001)
According to the researchers, J1
originated in the southern part of the
According to Di Giacomo’s (2004) study,
the high diversity of haplogroup J2 in Turkish and southern European
populations suggests that this branch of haplogroup J originated around the
This conclusion, however,
contradicts an earlier study in which the researchers argued that certain
elements of Neolithic material culture – painted pottery and figurines in
particular – emanating out of the northern
Di Giacomo’s (2004) study emphasized
that J2 is “Mediterranean” or “Aegean” rather than “Semitic” in character. It is found predominately in northern
It is this final idea – that much of
J2 is European in origin rather than Middle Eastern – that complicates the
interpretation of Jewish J2 results.
Sub-clade J-M102* originated in the southern part of the Balkans and is
generally absent in Middle Eastern populations (Semino et al. 2004). Ashkenazim have a 1.2% frequency of J-M102
and Sephardim have 2.4%. These results
argue in favor of European gene flow into the Jewish community.
Three other sub-clades appear in
Jewish populations and invite further examination of their origins. Sub-clade J-M92* appears only in Ashkenazi
populations at a frequency of 4.9%. The
fact that it is absent in Sephardim indicates that the origin of this group
among Ashkenazim may be attributed to European gene flow. While J-M92* appears in small percentages
among Iraqi (1.3%) and Lebanese (2.5%) groups, it occurs in higher frequencies
and is much more diversified in Turkish, Balkan and Italian populations (Semino
et al. 2004).
Sub-clade J-M67* presents an equally
complex picture among Jewish populations.
Ashkenazi Jews have 4.9% and Sephardim have 2.4% (Semino et al. 2004). Again, J-67* is present among populations in
the northern
Semino (2004) reports the following
regarding the origins of J-M67* and J-M92*:
…J-M67* and J-M92 could have arrived in Europe from
Anatolia via the Bosporus isthmus, as well as by seafaring Neolithic
populations who reached southern
Thus, Semino has expertly merged the
findings of both Di Giacomo and King/Underhill regarding the origin and
expansions of J2 (Neolithic versus Post-Neolithic Aegean/Greek) into a cohesive
interpretation regarding the multiple migrations of J2 throughout the
Mediterranean world.
The final sub-clade of J2 found
among Jews is J-M172*. While 12.2% of Ashkenazim
are in this sub-clade, Sephardim have a frequency nearly twice as high (Semino
et al. 2004). This sub-clade appears in
high percentages among Lebanese and Iraqi populations (20% and 10.2%,
respectively) and its presence in this region can probably be attributed to
J-M172* migrations out of
European Admixture Among the Ashkenazi
Although there has been strenuous
opposition to intermarriage with non-Jews since biblical times, including
biblical prohibitions, bans, warnings, rules and laws- law is one thing,
practice often another.
It should be stressed that it was
not only the Jewish communities that opposed such intermarriage. According to author Raphael Patai, the
Christian authorities in Europe outlawed not only “Christian-Jewish sexual
relations but also all kinds of social contact between members of the two
religions, and backed up their injunctions with generally severe penalties,
including the death penalty, imposed on both the Jewish and Christian partners
to the crime. However, the very
frequency and repetitiousness of the promulgation of such laws are …
indications of their ineffectiveness” (Patai 1989, p. 105). Unfor-tunately, we do not have an accurate
picture of the frequency of such sexual contact between Jews and Christians,
since only those relatively few cases which led to criminal prosecution are
known. How-ever, Patai believes the
number was significantly higher than that reported by the authorities.
Such prohibitions did not prevent
such sexual contact among Christians and Jews; nor did it prevent Christians
from converting to Judaism, individually and in groups, though it was probably
much more common for Jews to convert or simply leave the Jewish community,
given the significant oppression they faced in
Frankly, the fact that Jews have
substantial European ancestry is obvious to most onlookers – many Jews look like Europeans. The question for DNA researchers was: How
much of that European appearance actually translates into European genetic
ancestry?
Patai (1989, pp. 16-17) argues that
the Jews had never lived in sufficient reproductive isolation to have developed
distinctive genetic features. Rather, he
states that “all the available evidence indicates that throughout their history
the Jews continually received an inflow of genes from neighboring populations
as a result of proselytism, intermarriage, rape, the birth of illegitimate
children fathered by Gentiles, and so on.”
In addition, the ancient Israelites themselves were formed from a
heterogeneous mix of tribal and ethnic groups, both Semite and non-Semitic in
origin. Thus, heterogeneity was there
from the very beginning.
Behar (2004b) argues for an
extremely low admixture rate of 8.1% to 11.4% among the Y chromosome results. He further reduces this figure to an unlikely
5% if the Jewish Dutch results are excluded due to suspected high admixture
rates. However, Behar’s own reported R1b
(R-P25), R1a (R-M17) and I (I-P19) haplogroup frequencies indicate that these
groups comprise approximately one-quarter to one-third of the Ashkenazi Y
chromosomes. Furthermore, Behar
acknowledges that these haplogroups are probably indicative of European admixture
with Ashkenazi populations.
According to the findings of Behar (2004b,
Supplementary Material), R1b comprises 44 out of 442 results, or nearly 10% of
Ashkenazi results. Additionally, Behar (2004b)
reports that the highly-admixed Dutch Jews have 26.1% R1b results. Haplogroup I (I-P19) comprises 18 out of 442
results, or approximately 4% of the Ashkenazi results. Thus, haplogroups R1b and I among Ashkenazi
Jews comprise almost 15% of the DNA results.
Patai (1989, p. 41) provides an example of the cumulative effects of
admixture within the Ashkenazi population:
Let us assume that there was a Jewish community
somewhere in the
There are clearly some problems with
Patai’s hypothetical scenario. It is
unlikely, for instance, that the Ashkenazi population size remained completely
static during an eight hundred year period.
However, it is clear that the Jewish population grew very slowly during
this time period and that the huge Ashkenazi population explosion did not
happen until after 1300 CE. Ashkenazi
population size remained much reduced for generations due to a history of
dispersal, genetic bottlenecks and a high rate of endogamy. Further, it is unlikely that there was a
constant rate of gene flow from European groups into the Ashkenazi population. Rather, such introgression probably occurred
at an irregular rate, with occasional large groups like the Khazars integrating
into the Jewish community and adding their genetic legacy to the already
diverse gene pool of the Ashkenazim.
Patai’s ultimate conclusion
regarding admixture is particularly intriguing given the lack of DNA data
available when he wrote his book. He
relied heavily on other genetic data, including blood groups, fingerprint
patterns, and genetic diseases, to reach his conclusions. Despite these limitations, Patai (1989, p. 294) concluded that while Jewish
populations retain evidence of their
Jewish mtDNA Results
A Few Founding
Mothers
Jewish maternally inherited mitochondrial
DNA (mtDNA) results are examined in depth in only two published DNA
studies. In the first study, researchers
examined nine different Jewish groups and compared their mtDNA to eight
non-Jewish groups as well as an Israeli Arab/Palestinian population (Thomas et
al. 2002).
Thomas discovered a common
characteristic to almost all Jewish mtDNA – the high frequency of particular
mtDNA haplotypes within the Jewish populations.
In addition, Jewish mtDNA results displayed significantly lower
diversity than any non-Jewish population tested as part of the study, yet was
also characterized by greater differentiation between the Jewish groups as well
as their hosts.
These unusual results suggested to
the researchers that an extreme female-specific founder effect had occurred in
the genetic histories of most Jewish populations. The founder effects had, in fact, been so
severe that mtDNA frequencies in Jewish groups differed significantly from
those seen in any of the non-Jewish populations.
As to the origin of these maternal
founders, Thomas (2002) acknowledged that “in many cases, it is not possible to
infer the geographic origin of the founding mtDNAs within the different Jewish
groups with any confidence.” One thing,
however, was clear to the researchers: the Jewish groups formed independently
from each other around a small group of maternal founders. In other words, many of the Jewish groups did
not share the same female ancestors.
Furthermore, it appeared to Thomas that the founding of these maternal
lineages occurred “immediately after the establishment of the communities or
over a longer period of time.” Since
haplogroup diversity was so low, female-specific gene flow from the surrounding
non-Jewish community must have been limited once the original community was
established.
Finally, Thomas (2002) noted that
although Ashkenazi Jews were commonly believed to have suffered a sharp founder
effect, the group had a modal haplotype frequency similar to their non-Jewish
host populations (9% vs. 6.9%). While
this could be evidence that no such founder events had occurred in this
population, it could also indicate “that present-day Ashkenazic Jews may
represent a mosaic group that is descended on the maternal side from several
independent founding events.”
In the second Ashkenazi mtDNA study,
Behar (2004a) attempted to answer the question of founder events among
Ashkenazim posed by Thomas. Unfortunately,
it could be argued that this entire study is directed at convincing the reader
that “Ashkenazi populations as a whole are genetically more similar to Near
Eastern non-Jewish populations than to European non-Jewish populations.”
In order to prove this, a complex
analysis regarding “mismatch distributions” between Jewish and non-Jewish
populations is performed. A careful
reading, however, indicates that these mismatch calculations are based on a
number of unfounded assumptions, including a shared common history of
Pleistocene population growth between Jewish and Middle Eastern groups. However, since only a small percentage (10% -
20%) of the Jewish mtDNA is definitively stated to be of Middle Eastern origin
in the study, calculations based on this assumption are questionable (Behar et
al. 2004a).
Behar (2004a) attributes the obvious
peculiarity of Ashkenazi mtDNA, namely reduced mtDNA diversity coupled with
usually high frequencies of particular mtDNA haplotypes, to strong genetic
drift rather than to independent founder events. Furthermore, Behar suggests the unusual
Ashkenazi mtDNA results are due to a
Jewish population bottleneck that occurred in the
[o]ur
computer simulations confirm that the frequencies of the zero and one class of
the Ashkenazi mismatch distribution are significantly elevated over that
observed for the sequences sampled from Near Eastern populations. This is a strong indication of a recent
population bottleneck and further simulations suggest the data best fit a
200-fold reduction in size approximately 150 generations ago.
Behar (2004a) acknowledges that the
rationale for such a bottleneck can be sustained only if supported by two major
assumptions: “the Ashkenazim have not admixed with European host populations
and that the mutation rate is 1.2 x 10-3 per sequence per
generation.” However, postulating no
admixture between Jewish and non-Jewish European host populations is both
historically and scientifically untenable, particularly in light of Behar’s own
Y chromosome results indicating extensive admixture.
A close inspection of Jewish mtDNA
results refutes any argument for lack of maternal admixture with European
populations. According to Behar (2004a),
only four mtDNA groups account for approximately 70% of Ashkenazi mtDNA
results. These haplogroups are K (32%),
H (21%), N1b (10%) and J1 (7%). However,
Behar indicates the origins of three out the four groups (H, K and J) are
unknown. More importantly, he
acknowledges that certain other haplogroups among the Ashkenazi – V and U5 in
particular – appear to be of European origin, thereby negating altogether the
assumption of no admixture. Finally, the
slow mutational changes that occur within mtDNA are unlikely to be strongly
influenced by population isolation and genetic drift occurring over a very
short time span, as is the case with the Jewish Diaspora. Thus, there is a much greater probability
that independent founder events occurring during the Jewish Diaspora rather
than genetic drift are the cause of Jewish mtDNA variability and lower
haplogroup diversity. However, it is
also possible that both factors had an effect on Jewish mtDNA.
The origin of Jewish mtDNA Haplogroup
K is unclear at this time. The most
common haplotypes, as distinguished by HVR1 mutations, are as follows: 223T-224C-234T-311C (33%); 224T-234C-311C
(24%); 093C-224C-311C (19%); and 224C-311C (16%). The first two haplotypes are almost
completely restricted to Ashkenazi populations, perhaps an indicator of
pronounced genetic drift (Behar et al. 2004a).
Shen (2004) found that the majority of Ashkenazi K lineages also shared
transitions at nucleotide positions 11470 and 11914, which are specific to
clade K1a. Except for the Ashkenazi, this
particular K1a motif has only been reported in one Palestinian, one Romanian,
one Czech, and one Basque (Shen, et al. 2004).
Because of their near absence in non-Jewish populations, the most common
Ashkenazi K1a haplotypes can be used as indicators of Ashkenazi ancestry.
Behar (2004a) noted that mtDNA
haplogroup N1b exhibits a significant lack of haplotype diversity, indicating a
probable common ancestral origin for this group. Additionally, Ashkenazim results display only
a single transition from the putative ancestral HVR1 haplotype (145A-176G-223T)
which Behar (2004a) reports is almost completely restricted to Middle Eastern
populations. The inference that N1b is
of Israelite origin is further supported by the fact that this group appears to
be spread throughout eastern and western Ashkenazim at almost equal frequencies
(Behar et al. 2004a, Supplementary Material).
Behar (2004a) does state that
certain other haplogroups – L2, pre-HV, U7, M1, and U1b- which appear at very
low frequencies among Ashkenazim, may have either a Middle Eastern, African, or
Mediterranean origin. Unfortunately,
this does little to clarify the probable origins of these groups among
Ashkenazim.
The haplogroups that comprise the
remaining 30% of Ashkenazim mtDNA including the following: J (J*, J1, J2), T (T*, T1-T5), HV1, U6 (U6a*,
U6a1, U6b), HV*, W, X, I, M*, U4, U1a/U1b, U2/U2e, U3, R (R*, R1, R2). Behar (2004a) lists their provenance as unknown. However, a close examination of mtDNA
haplogroups J1 and J2, which comprise 7% of Ashkenazi results, reveal that they
are common only among Eastern Ashkenazim (Behar et al. 2004a, Supplementary
Material). Therefore, Ashkenazi mtDNA J
can probably be attributed to Eastern European admixture. In fact, Shen (2004) notes that Ashkenazi J1
and T2b haplotypes have exact HVS1 matches with European groups, suggesting
admixture.
Although
it may initially appear that Ashkenazi mtDNA groups such as HV* and HV1 are
Middle Eastern/Israelite in origin, the fact that both mtDNA groups are found
almost exclusively among Eastern European Jews points to admixture as a more
likely source of this ancestry. On the
other hand, pre-HV1 and L2a are found in low frequency among both eastern and
western groups and are more likely to be of Israelite origin (Behar et al.
2004, Supplementary Material).
Haplogroup
U among Ashkenazim comprises 32 out 565 results, with U7 comprising 8 out of
the 32 results (Behar et al. 2004, Supplementary Material). In a study on mtDNA in the Volga-Ural region,
researchers found U7 to be typical of Middle Eastern populations,
including
U2
among Ashkenazim appears to be of European origin, since the common haplotype
resembles that seen in European populations (HVR1 motif 051G, 129C, 189C)
(Behar et al. 2004a, Supplementary Material).
Although Behar (2004a, Supplementary Material) suggested that Ashkenazi
U1b was “Middle Eastern, African, or Mediterranean” in origin, this sub-clade
is found at a low frequency only among Polish and Russian Jews; thus, European
admixture is probably the source of this group among Ashkenazim. U3 among the Ashkenazi (2 out of 32) could be
a genetic inheritance from Khazarian ancestors, given that the highest
diversity of this subgroup is found in the
U4
is also probably European (1 out of 32), though the distribution of U5 is more
complex, given that it occurs not only in European groups, but also in the
Middle East and Central Asia. The fact
that Behar (2004a) identifies Ashkenazi U5 as European in origin may indicate
that the Jewish haplotypes more closely resemble those seen in Eastern European
populations.
Bermisheva (2002) also explored
haplogroup T, noting certain HVR1 haplotypes that are common among Finno-Ugric
and Udmurt populations of the Ural region (126, 294; 126, 294, 296, 304; T1:
126, 294, 163, 186, 189). Ashkenazi
T1-T5 (excluding T*) comprise 21 individuals out of 565 in Behar’s (2004a) study,
some of which have identical or similar haplotypes to those found in
Bermisheva’s samples.
Eastern vs.
Western Ashkenazim
One important discovery made in
Behar’s (2004a) study is the apparent differences in mtDNA haplogroup frequency
between various Ashkenazi populations, particularly between eastern and western
Ashkenazim. Behar divides the various
Ashkenazi populations as follows: French Jews, German Jews, Austrian Jews,
Lithuanian Jews, Polish Jews, Romanian Jews, Russian Jews, and Ukrainian Jews.
One apparent difference is that
eastern Ashkenazim, particularly Polish Jews, appear to have as great a
diversity of mtDNA haplotypes as Middle Eastern and European populations. Thomas (2002) had noted this feature in the
Ashkenazi results in his own study. Some
of these haplotypes do not appear at all among the western Ashkenazim. In fact, the western Ashkenazim display a
remarkably low diversity of haplogroups and haplotypes, much lower than that
seen in either eastern Ashkenazim or non-Jewish European/Middle Eastern groups. Haplogroups that appear in eastern Ashkenazi, but are rare to absent in western
Jewish groups, include HV*, HV1, pre-HV1, J1, J2, U1-6, W, V, and certain
sub-clades of H (Behar et al; 2004a, Supplementary Material).
This would strongly favor an
independent founder hypothesis among these populations. It would appear that the Ashkenazim share a
common set of founders of both European and Middle Eastern origin, while a
separate group of maternal founders entered the population of eastern Ashkenazi
communities sometime during the Diaspora.
The fact that some of these mtDNA
groups are rare to absent in western Ashkenazi populations argues in favor of a
post-Diaspora European origin. Furthermore,
many scholars believe that Eastern European Jewry has its genetic basis among
the western Ashkenazim; Eastern communities were founded when Jews migrated
from
Exploration
of Ashkenazi mtDNA Haplogroup H
The frequencies of mtDNA Haplogroup
H sub-clades among Ashkenazim are shown in Table 5 (Pereira et al. 2005, Table
1)
Table 5
Frequency of Haplogroup H Sub-clades
in Ashkenazim
|
H Sub-Clade |
Frequency |
|
H1 |
0.051 |
|
H2 |
0 |
|
H3 |
0.44 |
|
H4 |
0.007 |
|
H5a |
0 |
|
H6 |
0.028 |
|
H7 |
0 |
|
H13 |
0.028 |
|
H* |
0.052 |
|
Total (All H) |
0.21 |
In regards to H1,
H1 is almost exclusively European, with its only
incursion into the
Therefore, while it appears the H1
among Ashkenazim is of probable European origin, the possibility of a Middle
Eastern origin based on the Palestinian findings remains unresolved. However, given that H1 does not occur in
other reported Middle Eastern groups (
As to H3 among Ashkenazim, its
provenance is almost certainly European, given that it occurs in none of the
Middle Eastern groups, including Palestinians.
In fact,
Sub-clades H4 and H13 are found in
Sub-clade
H6 is identified as Eastern European and Trancaucasian in origin and
distribution (Pereira et al. 2005). The description is in agreement with findings
from another mtDNA study which located H6 and its sub-groups almost exclusively
within in Slavic and Turkish groups (Loogvali et al. 2004). However, there are hints in both studies that
H6 and its sub-clades may also be found in low frequencies among some western
European groups, such as the French and Irish (Loogvali et al 2004; Pereira et
al. 2005). In fact,
In conclusion, it appears that much
of Ashkenazi H can be attributed to European founding mothers, though the
origin of certain sub-clades, in particular H4, H13 and H*, remain
unresolved.
Conclusion: Future Jewish DNA Studies
The DNA studies have revealed a high
degree of genetic interrelatedness among Ashkenazi groups, particularly among
those of
DNA research has also revealed
significant genetic links between Sephardic and Ashkenazi Jewish populations,
despite their separation for generations.
With the Cohanim study, researchers found a clear genetic connection
between the Jewish priests and a shared Israelite ancestor from the past. Additional genetic results suggest that the
Ashkenazim can trace at least part of their ancestry to their Israelite
forbearers.
But Jewish DNA presents a picture
that is far more complex than just the Cohanim results. This picture is also far more diverse than
what many genetic studies on Ashkenazi Jews would suggest. Instead, many of those studies have focused
heavily on the Israelite DNA results, often downplaying the significant
contribution of European and Khazarian ancestors. The examination of only a single component of
Jewish ancestry has resulted in an incomplete and, to a certain extent,
distorted presentation of the Jewish genetic picture.
Diversity was present from Jewish
beginnings, when various Semitic and
Although the debate over the fate of
the Khazars is far from over, DNA research suggests that remnants of these
mysterious people continue to exist within the genetic makeup of Ashkenazi
Jews. In fact, the Levite results
indicate that the Khazars became fully integrated into the Ashkenazi
communities and came to play an important role within the Jewish
priesthood.
The Cohanim results do not disprove
the genetic contribution of the Khazars.
Rather, the DNA studies indicate that Jews are not entirely Khazarian,
Israelite or European in genetic makeup, but a complex and unique mixture of
all these peoples.
Genetic studies of the future will
hopefully clarify many of the remaining mysteries surrounding the origins and
formation of the Ashkenazi communities.
For instance, the origins and distribution of the most common mtDNA
haplogroup among Ashkenazim – haplogroup K – remains unexplored. Additionally, tantalizing differences in the
genetic makeup of western and eastern Ashkenazi populations remain to be fully
investigated by DNA researchers.
In addition to the Ashkenazim, many
other Jewish groups are ripe for study by genetic researchers. Examination of these groups will no doubt
help illuminate their common genetic bonds as well as their differences with
other Jewish populations. Groups such as
the Sephardic and Mizrachi Jews await study of their own unique DNA makeup.
In conclusion, much remains to be
explored regarding the DNA of various Jewish populations. Future DNA studies will undoubtedly provide a
clearer picture of the various heterogeneous peoples who came together over time
to form the Jewish people of today.
Acknowledgments
I wish to express my gratitude to the individuals who
kindly assisted me in my research. I
thank
Electronic-Database Information
www.yhrd.org YHRD
STR Database
References
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[1]
The YHRD database does not contain the value for DYS388, but this marker
has a value of 12 in more than 90% of the R1a haplotypes reported in the
literature.