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Journal of Genec Genealogy 8(1):21-34, 2016
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Abstract
To invesgate European introgression into Ashkenazi Jewry, the European-dominant haplogroup H mi-
tochondrial DNA was examined. The results provided genec evidence that gene ow between Jewish
and non-Jewish populaons occurred early in Jewish selement in Europe with isolaon of the groups
thereaer. We targeted branch H7 and found three Ashkenazi Jewish clades, two that were not previ-
ously recognized as Jewish (H7e, H7c2) and one newly idened group (tentavely H7j) characterized by
1700C and 152C transions. A total of 100 new complete mitochondrial DNA sequences (mitogenomes)
are reported, including the largest collecon of H7e to date. H7e is a deeply nested clade with several
subclades; more than 85% of the carriers had Ashkenazi maternal ancestry from such diverse areas as
Germany and Austria in Western Europe, Poland, and the Balc states in Central Europe, and Moldova,
Ukraine and Belarus in Eastern Europe. Between 10% and 15% of the carriers had European non-Jewish
ancestry which, strikingly, showed the greatest number of mutaonal dierences from ancestral H7e.
Moreover, there was no overlap with the Jewish-aliated sequences other than at the ancestral node.
Earlier research proposing early mixing followed by isolaon has relied on less direct inferences. The
smaller groups of H7c2 and H7j were exclusively Ashkenazi Jewish, with interesng sequence paerns.
H7c2 consisted of a number of non-nested sister branches, reecng recent expansion in a large popula-
on, while H7j showed a possible in-progress vanishing of the ancestral group, well on its way to moth-
ering an orphan node. The severe boleneck and subsequent populaon explosion in the Ashkenazim
provide a unique opportunity to view haplogroups in all states of evoluon and provide a window into
the Mediterranean–Hellenisc world of anquity.
Evidence of early gene ow between Ashkenazi Jews and non-Jewish Europeans
in mitochondrial DNA haplogroup H7
Doron Yacobi & Felice L Bedford, Ph.D.
Address for correspondence:
University of Arizona, P.O. Box 210068, Tucson, AZ 85721, USA
Introducon
Over the last decade, evidence has accumulated
that the genec make-up of Ashkenazi Jewry is a
combinaon of Levanne and European sources.
Analyses of autosomal genes, reecng a combi-
naon of paternal and maternal inheritance, have
indicated a signicant degree of European admix-
ture among Ashkenazi Jews as well as a close re-
laonship between most contemporary Jews and
non-Jewish populaons from the Levant (Atzmon
et al., 2010; Behar et al., 2010). The source of the
European contribuon may come from the mater-
nal line. Costa and colleagues (2013) argued that
the majority of the Ashkenazi mitochondrial hap-
logroups, which are inherited only from the moth-
er, were present in Europe long before the arrival
of Jews. However, Behar and colleagues (2006)
suggested that these same maternal haplogroups
most likely originated in the Levant alongside pa-
ternally inherited Y chromosomes of Levanne or-
igin (Atzmon et al., 2010; Ostrer & Skorecki, 2013).
When haplogroups have a notable presence in
both the Near East and Europe, determining their
geographic origins can be challenging and lead to
diering interpretaons. An example involves T2e,
a haplogroup that harbors a couple of unique Jew-
ish clades. Bedford (2012) reported prevalence of
T2e in Italy, Egypt, and parts of Saudi Arabia and
favored a Near Eastern rather than European ori-
gin of the mutaons that dene T2e but le open
the possibility that either locale could be the origin
or recipient of migraon. On the other hand, Pala
et al. (2012), using similar geographic incidences,
concluded that T2e’s origin was European.
In principle, esmates of when mutaons emerged
can help resolve where they emerged. In pracce,
however, standard deviaons of me esmates
can extend across greater than a thousand years,
and me esmates themselves can dier by an
order of magnitude depending on the esmated
mutaon rate. In research on Jewish groups, we
(Bedford et al., 2013; Bedford & Yacobi, 2014) re-
ported on a Bulgarian Sephardic founding lineage
(T2e1b), originally idened by Behar, which we
found among both Ashkenazi and Sephardic Jews
from diverse regions. Full genomic sequencing
found much coding-region variability, with several
haplotypes. Coalescence me for the sequences
using a common mutaon-rate esmate suggest-
ed that the shared mutaon (9181G) predated
the split between the Jewish groups and therefore
likely arose in the Levant. However, a dierent ,
also jusable mutaon rate suggested the origin
was much more recent, implicang geneow in
Europe aer the split as the source as of the mu-
taon common to both Sephardic and Ashkenazi
populaons.
Diculty in disnguishing between Levanne
and European sources for Ashkenazi mitochon-
drial haplogroups is further muddled by an oen
overlooked historical fact: that the boundaries of
Europe and the Levant are a relavely recent his-
torical construct dang back to the Arab conquest
in the 7th century CE.
To further invesgate the role of European ma-
ternal admixture into the Ashkenazi gene pool,
we took a dierent approach than previous in-
vesgaons. Rather than surveying a large num-
ber of haplogroups with ambiguous geographic
origins, we conducted a detailed invesgaon
into a haplogroup that is overwhelmingly Euro-
pean (e.g., Brotherton et al., 2013) yet sll found
among modern Ashkenazi Jews. Haplogroup H
is the dominant European mtDNA haplogroup.
Its numerical success nears half the populaon
in some countries, making it the most common
haplogroup in Europe. Among Ashkenazi Jews,
23% have haplogroup H (Costa et al., 2013), yet
despite being a “major” Ashkenazi haplogroup, it
is oen overlooked. When examining Ashkenazi
H mitogenomes, Costa and colleagues found that
most of them nest within west/central European
subclades, with closely matching sequences in
Eastern Europe. As such, haplogroup H’s gener-
al European dominance may illuminate issues of
introgression of European DNA into the Ashke-
nazi gene pool. Does haplogroup H reect recent
unions of non-Jewish women and Ashkenazi men,
or does it point to events of more distant interest?
We focused on H7. While other choices were pos-
sible, we selected H7 as an understudied clade
within haplogroup H that our pilot study suggest-
ed had an unexpected notable presence among
the Ashkenazim. Finally, we also delved into Med-
iterranean and Jewish history to place the genec
results within their correct historical framework.
A consideraon of relevant Mediterranean and
Jewish history is given in Appendix A. The combi-
naon of genec results and accepted history may
lead to a greater understanding of Jewish mater-
nal lineages.
Materials and Methods
To idenfy Ashkenazi clusters within haplogroup
H7, we inially selected two individuals with
self-described Ashkenazi Jewish maternal lineages
belonging to two dierent subclades of H7 from
the customer base at Family Tree DNA (FTDNA;
Houston, Texas, USA). FTDNA oers genec test-
ing services direct to individuals and has one of
the largest databases in the world of individuals
who have had their full mitochondrial genomes
sequenced, including many with European and
Ashkenazi Jewish roots. The data from FTDNA cus-
tomers is increasingly being used as a scienc re-
source (Bedford, 2012; Bedford et al., 2013; Behar
et al., 2012; Pike, 2006; Pike et al., 2010).
These two sequences were used as “kernels”, or
seeds, to search the FTDNA database for other full
Journal of Genec Genealogy 8(1):21-34, 2016
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Journal of Genec Genealogy 8(1):21-34, 2016
mitochondrial sequences that diered by 0–3 mu-
taons, as in our previous study (Bedford et al.,
2013). These people were contacted by email and
invited to be part of the research study. They were
asked about 1) the addional mutaons they car-
ried in their mtDNA, 2) who their matches were
within 0–3 genec dierences, and 3) their deep
maternal ancestry. In this manner, a large number
of dierent haplotypes belonging to both H7 sub-
clades was idened, and a robust picture of all
members of these Ashkenazi Jewish clusters was
assembled.
Thereaer, the database of the H7 mtDNA ge-
nome project (“H7 MtGenome”), co-administered
by one of us (Yacobi), was mined for addional se-
quences not uncovered by the above procedure.
Within the H7 MtGenome project, 229 parci-
pants had tested their full mitochondrial genome
at the me of this study. The H7 MtGenome proj-
ect is open to anyone who has tested their mtDNA
full genomic sequence with FTDNA and belongs
to H7 or one of its subclades (hps://www.fam-
ilytreedna.com/public/mtdna_h7/). All members
who were not contacted inially and whose data
showed they belonged to one of the groups of in-
terest (the two idened Jewish clades and any
cluster which suggested Jewish presence) were
also issued invitaons to parcipate in the study
and quesoned as above.
In addion, for each Ashkenazi cluster found, a
sister cluster was sought for comparison among
project members without regard to ethnicity. Sis-
ter clusters were dened as two disnct branches
deriving from the same mother node in the tree.
Sequences will also be deposited in GenBank (see
Supplementary Table 1).
We decided to use relave me origins, where ap-
propriate, rather than ambiguous absolute me
esmates.
Results
Three branches with a notable Jewish constu-
ency were idened within haplogroup H7, for
a total of 89 sequences. Two of these branches,
H7c2 and H7e, have been previously idened
but not previously connected to Ashkenazi Jewish
roots. The third branch is newly reported here; it
is dened by a nucleode transion from T to C
at posion 1700 in the coding region and by two
addional mutaons (152C, 573.1C), and thus was
not idenable from inspecon of the rst con-
trol region alone. We tentavely label this clade
H7j, following standard mtDNA nomenclature
(Phylotree Build 17; Van Oven, 2015). The three
branches likely represent three dierent mater-
nal founders. In addion, two sister clades were
idened for H7c2 among the project’s parci-
pants, namely H7c1 and H7c3, both documented
branches of H7c. We did not nd any sister clades
to H7e or H7j in our data set. An overview of the
ve branches in relaon to the H7 ancestral node
is shown in Figure 1.
H7J
A total of 14 individuals belonging to newly iden-
ed H7j were found. Of these, nine agreed to par-
cipate. All nine parcipants reported Ashkenazi
Jewish ancestry on their direct maternal line, with
one nong addional possible ancient Sephardic
Jewish roots. A notable paern was observed in
this small clade in which the most frequent se-
quence was not ancestral H7j, but rather a descen-
dant branch (see Figure 1, boom branch). There
is no known posive selecon pressure because
its single change in the coding region (T11137C)
is a synonymous mutaon. The success of this
branch within H7j may instead be due to random
dri during the populaon explosion following the
severe Ashkenazi boleneck. We may be witness-
ing the in-progress disappearance of the mother
node of H7j, which is becoming less prevalent
than its daughter node, presumably an interme-
diate step before being lost enrely to history and
producing breaks in the phylogenec tree.
H7c2 and sister clades H7c1 and H7c3
A total of 25 people were found in H7c2, 17 of
which responded to the invitaon. All 17 reported
Ashkenazi Jewish ancestry on the direct maternal
line. We do not think this reects sampling bias
because public informaon available on individ-
uals who did not respond pointed to Ashkenazi
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Journal of Genec Genealogy 8(1):21-34, 2016
24
Jewish ancestry as well. H7c2 consisted of individ-
uals from regions of Austria, Hungary, Poland, Ro-
mania, and the Pale of Selement.
Of the 25 individuals conrmed as belonging to
H7c2, a large majority (20) belonged to the an-
cestral cluster (A13959T). The remaining ve each
had a unique haplotype. This is consistent with re-
cent expansion in a large populaon, large enough
for several branches to emerge contemporane-
ously. The deepest nesng was separated by two
mutaons from the ancestral H7c2, belonging to
an individual of Hungarian Jewish ancestry (see
Figure 1).
In contrast, the sister clade H7c1 (previously es-
mated to be over 3,000 years old; Behar et al.,
2012) had a wider geographic distribuon than
Ashkenazi dominated locales, with our parci-
pants reporng ancestry from Egypt, Asia Minor,
Italy, Germany, the Brish Isles, and the Ukraine.
H7c1 is also found among the Druze of Israel
(Shlush et al., 2008). One of our parcipants re-
ported Sephardic Jewish ancestry, and the re-
maining parcipants denied any Ashkenazi Jewish
ancestry. The current distribuon of H7c1 may re-
ect populaon movements around the Mediter-
ranean during and subsequent to the Roman era.
The second sister clade H7c3 (esmated by previ-
ous researchers to be 2440 years old) was distrib-
uted mainly in Northern and Eastern Europe with
ancestry reported from Finland, Sweden, Russia,
and Poland. As with H7c1, no individuals with
Ashkenazi Jewish ancestry were reported despite
the haplogroup being found in some of the areas
heavily populated by Ashkenazi Jews, such as Gali-
cia in Poland.
The Ashkenazi Jewish H7c2 appears to be a young-
er clade than sister H7c1 with one fewer mutaon
separang it from the mother haplogroup H7c and
less rich nesng structure. H7c2 has been dated
previously to 1,735 YBP (Behar et al. 2012), young-
er than the 3000+ YBP esmate for H7c1 and
2400+ YBP for H7c3. The relavely young cluster
of H7c2, found here only in Ashkenazim (although
among mulple diverse communies), favors a lo-
cal European emergence in early Ashkenazi sele-
ment predang their geographic dispersal. In view
of the wide geographic dispersal of the mother
clade H7c in both Western Asia and Europe (es-
mated TMRCA of over 7,000 YBP; Behar et al.,
2012), and the documented presence in the Le-
vant of the daughter branch H7c1, which includes
the Druze samples and at least one individual of
Sephardic origin, a Levanne source for the pre-
cursor of H7c2 is a possibility. However, consider-
ing that the sister clade H7c3, as well as some of
the H7c1 samples, trace their ancestry to Northern
Europe, it is dicult to reach a conclusion based
on this evidence. If the absolute me esmate for
H7c2 is correct, this ming would also support a
non-European origin for the maternal ancestress
of the local Ashkenazi H7c2 mutaon, because it
dates to the early period of the Jewish diaspora
(200–300 CE; i.e., it pre-dates 650 CE) when the
vast majority of Jews were found outside of Eu-
rope (see Appendix). However, as noted, absolute
me esmates from genec mutaons rates are
problemac and cannot presently be relied upon
to disambiguate origin. Brotherton and colleagues
(2013), for example, using dated haplogroup H ge-
nomes to calculate mutaon rates, found a mu-
taon rate 45% higher than current esmates for
human mitochondria.
H7e
In contrast with H7c2 and H7j, which were found to
be exclusively Jewish, H7e included a few individ-
uals of European ancestry with no known Jewish
ancestry. H7e was also the largest of the predom-
inately Jewish clusters within H7, with 54 of the
63 individuals of self-described certain Ashkenazi
Jewish. Behar and colleagues (2012) dated H7e to
the 5th–6th Century CE, but, as with other exam-
ples noted, use of a dierent mutaon rate or a
high standard deviaon means the cluster could
either predate or postdate the crical 650 CE me
boundary. We did not idenfy any individuals car-
rying only one of the dening mutaons of H7e
(8026T and 9527T), consistent with earlier work
by Atzmon et al. (2010). H7 itself has been es-
mated to be 8890 years old (Behar et al., 2012),
many thousands of years older than H7e. Overall,
no conclusion can be drawn about the origin of
H7e from looking at the haplotypes upstream.
Journal of Genec Genealogy 8(1):21-34, 2016
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Journal of Genec Genealogy 8(1):21-34, 2016
26
Of the 63 individuals with H7e, 31 belonged to
the ancestral cluster and carried only the den-
ing mutaons of the clade, 8026T and 9527T. In
addion, 28 of these 31 individuals were either
self-described certain Ashkenazi Jewish or were
highly likely to have Ashkenazi roots based on the
informaon provided about their direct maternal
lines. For two individuals, there wasn’t sucient
informaon to determine whether they had Ash-
kenazi roots, and one individual had no known
Ashkenazi roots. None of those belonging to the
Ashkenazi cluster were aware of Sephardic or oth-
er Jewish roots.
Ashkenazi Jewish H7e
In addion to the ancestral cluster in H7e, a num-
ber of disnct Ashkenazi clades within H7e were
found. The cluster with the greatest internal di-
versity, which we tentavely labeled H7e1, was
idened by the addional mutaon 8994A in the
coding region. All known members of H7e1 report-
ed Ashkenazi ancestry on their maternal lines. The
sequence most distant from the ancestral cluster
had three addional mutaons (Figure 2). The
deep nesng provided evidence of the longevity
of H7e among Ashkenazi Jews. An addional large
Ashkenazi cluster, tentavely labeled H7e2, was
idened by the mutaon 12651A.
In total, 84% of the samples belonging to H7e had
or highly likely had Ashkenazi Jewish roots on their
direct maternal lines. The geographic distribuon
of these individuals in the ancestral cluster en-
compassed praccally all of the countries in which
Ashkenazi Jews lived at the beginning of the 20th
Century, from Germany and Austria in Western
Europe, through Poland and the Balc states in
Central Europe, to Moldova, Ukraine and Belarus
in Eastern Europe. Furthermore, within the Ashke-
nazi subclades of H7e, disnct regional paerns of
distribuon were discernable, with disproporon-
ate numbers reporng Lithuanian ancestry (60%)
in H7e1 (8994A) and Polish ancestry (50%) in H7e2
(12651A).
The wide distribuon of the ancestral cluster
along with the more regional distribuon of the
subclades indicate that H7e entered the Ashkenazi
gene pool at a relavely early stage in the history
of the haplogroup. The emergence most proba-
bly occurred no later than during the 9th and 10th
centuries during the formave stages of Ashkenazi
Jewry and prior to the movement eastwards to
Central and nally to Eastern Europe.
Non-Jewish H7e
Of the 63 H7e individuals, six had no known Ash-
kenazi ancestry (~10%), including two who can
trace their ancestry back to Germany and one to
the island of Susak in Croaa. The remainder could
not trace their ancestry beyond colonial America.
Another three individuals are unlikely to have Ash-
kenazi ancestry (~5%).
A striking aspect about the non-Jewish H7e results
is that they were found to be a considerable ge-
nec distance from the ancestral cluster and sep-
arated by several mutaons (see Figure 2). One
sequence had four possible independent muta-
ons (16218T, 292.1A, 294.1T, 11890R), and two
sequences had three mutaons (2222C, 11890G,
16305G). Furthermore, these clusters did not nest
within the exisng Jewish subclades of H7e, nor
did those nearer to the ancestral cluster with no
known Jewish roots. There seems to be a clear
disncon between those belonging to the sub-
clade with Ashkenazi Jewish roots and those with-
out Ashkenazi Jewish roots, bar one member of
the ancestral cluster with no known Jewish roots
(< 4% of the ancestral cluster) The non-Jewish
samples also show greater genec diversity than
the Jewish samples.
Discussion
The current work idened three clades and sev-
eral subclades of H7 as predominantly Jewish. One
of these (H7j) was previously undiscovered, and
the others (H7e, H7c2) had not previously been
idened as mainly Jewish. We focused on the Eu-
ropean haplogroup H, rarely discussed within Ash-
kenazi genecs, to gain insight into early European
Jewish maternal origins.
Journal of Genec Genealogy 8(1):21-34, 2016
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Journal of Genec Genealogy 8(1):21-34, 2016
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The largest group was H7e, with 63 individuals.
This reects the largest collecon of complete
H7e sequences reported to date; adding to the
previous ve sequences available on GenBank. At
least two regionally disnct subgroups were new-
ly found within H7e. The relavely large sample
enabled several paerns to be revealed: 1) The
bulk of H7e individuals have Ashkenazi maternal
origins. 2) The geographic origins of Ashkenazi
H7e encompassed all regions in which Ashkenaz-
im were found including Germany and Austria in
Western Europe, Poland and the Balc states in
Central Europe, and Moldova, Ukraine and Be-
larus in Eastern Europe, with regional subclades
apparent. 3) Some H7e sequences were found in
individuals who knew of no Jewish ancestry. 4)
The Non-Jewish sequences showed rich nesng
and several mutaonal dierences from ancestral
H7e. And, 5) the non-Jewish clusters showed no
overlap with Jewish subclades. Taken together,
these ndings strongly implicate the introgression
of a mitochondrial lineage either from or into the
Jewish gene pool that occurred early in the sele-
ment of European Jews. This was followed by no
further genec contact between the two groups.
Genec isolaon led to separate expansions, es-
pecially among the Ashkenazi as they made their
way deep into Eastern Europe.
One challenge facing research into Jewish mater-
nal lineages has been their disncveness, which
makes their origins dicult to determine. That is,
many maternal lineages found among Jewish pop-
ulaons, despite having signicant coding region
variability, are restricted solely to the Jewish sub-
group to which they are found in. In H7e, on the
other hand, we found disnct evidence of both
Ashkenazi Jewish and European non-Jewish ma-
ternal lineages with clear relaonships based on
coding region variability. Thus we can see genec
evidence of an o-speculated but rarely seen early
exchange, followed by independent development,
in the gene pool between Jewish and non-Jewish
groups.
But in which direcon was the early genec con-
tribuon? The dominance of haplogroup H as an
early European rather than Near Eastern hap-
logroup may favor the hypothesis that one woman
belonging to Haplogroup H7e converted to Juda-
ism and married into the Jewish community. The
predominance of Jewish individuals within the
ancestral cluster would, in this view, be explained
by the Ashkenazi boleneck and subsequent pop-
ulaon boom (Carmi et al., 2014) which resulted
in an inated number of Ashkenazi Jewish women
carrying the ancestral version of H7e than in the
general European populaon.
One is also tempted to speculate that the non-Jew-
ish European origin of H7e was German. This
possibility is consistent with the fact that, of the
few individuals without Jewish roots, two could
trace their distant ancestry back to Germany. In
addion, Ashkenazi Jewish history considers set-
tlement in Germany to have occurred before ex-
pansion to Eastern European regions. If this is the
case, then H7 is younger than previously thought,
because there is praccally no evidence of a Jew-
ish presence during the 7th and 8th centuries in the
Rhineland area (see Appendix).
A second possibility consistent with an older age
for H7e is a European origin in Italy or Southern
France. The Jewish presence in the Rhineland
area, and later in central Europe, is considered the
outcome of the migraon of Jews from Southern
Europe that began in the 9th and 10th centuries
(Bocini & Eckstein, 2012). The gene ow, howev-
er, could have occurred in either direcon: for ex-
ample, non-Jewish French women marrying newly
arriving Near Eastern Jewish men or Jewish wom-
en arriving to Italy from the Near East and leav-
ing the Jewish community. Origin of H7e in Italy
or Southern France would require an explanaon
for why all traces of the haplogroup have vanished
from those areas. Such an explanaon may not be
hard to nd. In general, many — perhaps most —
haplogroups have likely vanished from existence;
the unusual situaon of the Ashkenazi extreme
boleneck and subsequent populaon explosion
allowed otherwise exnguished haplogroups to
survive in select demographics.
Finally, despite the predominance of haplogroup
H in Europe and the other factors suggesng a
European origin, we cannot denively rule out
the other extreme: that the ancestress of H7e was
herself part of the Jewish community in anqui-
ty. Regardless of where geographically the wom-
en were when the mutaons of H7e arose, they
sll could have arisen in women whose ancestors
were Jewish before leaving the Near East. H7 and
other H clades could nonetheless have been in the
Near East at the right mes even if they predomi-
nately expanded in Europe. In this view, the small
number of non-Jewish individuals belonging to
H7e represents the descendants of women who
le the Jewish community relavely early on in
the history of the subclade. This would include the
German, Croaan, and Colonial American parci-
pants in our study.
The present work also uncovered a small new
clade tentavely labelled H7j and idened the
previously known H7c2 group as Ashkenazi Jew-
ish. Neither had any non-Jewish aliaon. The
small sizes of the clusters may have precluded any
minor non-Jewish presence from being detected,
the small clusters may have vanished in all but
the large Ashkenazi populaon, or the mutaons
characterizing these branches may simply have
arisen among the isolated Ashkenazi communies
while in Europe. We favor the laer hypothesis.
Regardless, it is important to note that an ancient
Near Eastern source for the precursors of H7c2 or
H7j is possible under any of the hypotheses. We
also found interesng paerns in the smaller H7j
and H7c2 clusters. One cluster contained several,
non-overlapping, shallow branches that emerged
contemporaneously, reecng a relavely new
clade in a large populaon. The other paern re-
vealed a possible in-progress vanishing of the an-
cestral group, which may soon be lost to history
and lead to missing links in the phylogenec tree.
As analysis of H7 clades illustrates, determining
the direcon of gene ow with any degree of cer-
tainty is dicult, even when sequences belonging
to non-Jewish populaons are found (as for H7e).
The problem is even greater when a mitochon-
drial lineage is restricted exclusively to Ashkenazi
Jews, as oen occurs. Consequently, it is notable
that Costa and colleagues (2013) nonetheless con-
cluded that 80% of Ashkenazi maternal ancestry
is due to the assimilaon of mtDNAs indigenous
to Europe, most likely through conversion. We feel
this conclusion is premature and goes beyond the
available evidence for several reasons: the intri-
cacies of Jewish history are oen overlooked, the
methodology of looking at the immediate ances-
tral nodes is not always conclusive, me esmates
that can be grossly inaccurate are oen relied on
too heavily, and confusion exists between where
an individual lived when a de novo mutaon arose
and that person’s origins. We provide an example
and brief elaboraon from the Costa et al., 2013
paper to illustrate. We belabor the point because
of the importance of concluding such a denive
maternal origin for the vast number of Ashkenazi
haplogroups.
The haplogroups surveyed by Costa and col-
leagues (2013) may have arisen in Europe be-
tween the last glacial period and the Neolithic
as maintained. However, when, considering the
complex history of migraon within the Mediter-
ranean basin over the last 3,000 years, as well as
Jewish history (see Appendix), it is apparent that
where a haplogroup rst arose many thousands of
years earlier need not have any bearing on where
and when a specic disncve mitochondrial hap-
logroup rst emerged among Jewish populaons.
Furthermore, a sizeable poron of the Mediterra-
nean–Hellenisc Jewry of anquity was comprised
of converts to Judaism rather than descendants
of the Iron-Age Israelites. While the majority of
these converted in the land of Israel prior to 65 CE,
they undoubtedly included some descendants of
merchants, colonists, and troops with roots trac-
ing back to Mediterranean Europe, which could
explain some of the European admixture found
amongst the Jewish populaons descending from
the Mediterranean-Hellenisc Jewry of anquity
based in the Eastern Mediterranean.
For a specic example, consider the oen dis-
cussed haplogroups K1a1b1a and K1a1b1a1
among Ashkenazi Jews. Costa and colleagues
(2013) used maximum likelihood to esmate that
K1a1b1a dates to approximately 4,400 YBP and
K1a1b1a1 to 2,300 YBP. To place these results in
their historical perspecve, 2,300 YBP predates
the dispersal of the Jewish populaon from the
Levant to Europe, and 4,400 YBP predates by more
than 1,000 years the earliest documented menon
of the name “Israel” in historical record (the Mer-
Journal of Genec Genealogy 8(1):21-34, 2016
29
Journal of Genec Genealogy 8(1):21-34, 2016
neptah Stele, dated to 1209 BC). As they esmate
the parent clade K1a1b1 to be over 10K years old,
in the interim ~6,000 years between the appear-
ance of K1a1b1 and the appearance of K1a1b1a,
the maternal lineage could have migrated to and
from the Levant on numerous occasions (in a man-
ner similar to the movement paern of H7c1). As
noted earlier, prior to the Arab conquest in the 7th
century CE the Western and Eastern sides of the
Mediterranean basin were as well, if not beer,
connected to each other than the Western Med-
iterranean was to parts of Northwestern Europe.
When considering the age of the haplogroup, its
presence (however limited) among Sephardic
Jews and its apparent absence in non-Jewish pop-
ulaons (Costa et al., 2013; Behar et al., 2006) all
seem to indicate that a Levanne origin is far more
likely for K1a1b1a than a European one, regard-
less of where K1a1b1 rst originated.
Turning aenon to mtDNA mutaon rates, our
nding of early exchange between the European
and Jewish gene pools in haplogroup H mtDNA
(H7e) suggests that the rates of mutaons are
much faster than commonly assumed. They
are closer to those esmated using pedigrees.
Madrigal and colleagues (2012) calculated a
mutaon rate of 1.24 × 10−6 per site per year in
an analysis of individual family pedigrees from a
well-documented populaon in Costa Rica, a rate
three mes faster than those commonly derived
from phylogenies. The disncveness of Ashke-
nazi Jewish maternal lineages and their isolaon
from non-Jewish maternal lineages, coupled with
a rapid populaon explosion and the relavely
well-documented history of Ashkenazi Jewry,
may provide a further basis for grounding the
widely varying mutaon rates oered by dierent
sources.
Finally, we can reconsider the high degree of
European admixture (30%–60%) observed among
Ashkenazi, Sephardic, Italian, and Syrian Jews
(Atzmon et al., 2010) in autosomal DNA studies,
as well as the higher proporon of European
admixture among North African Jews compared
with non-Jewish North African populaons
(Campbell et al., 2012). Part of this clearly reects
limited more recent European admixture, hence
the elevated levels of European admixture when
comparing Ashkenazi to Sephardic Jews or Mo-
roccan to Djerban Jews. However, part undoubt-
edly reects the legacy of the Mediterranean and
the movement of peoples around the Mediter-
ranean basin long before Chrisan Southern
Europe become isolated from the Islamic Levant
and North Africa, and results from conversions to
Judaism prior to 65 CE in the Hellenisc and then
Roman Levant and North Africa.
Lile is known about the earliest days of sele-
ment of the Ashkenazi Jews in Europe. Research
into Jewish populaon genecs holds the prom-
ise of illuminang migraons and expansions
that are poorly understood due to the scarcity of
reliable historical sources. We believe we have
provided one of the clearest views of this early
period through a branch of maternally inherited
mitochondrial DNA haplogroup H that strongly
implicates gene ow between the Ashkenazi and
non-Jewish European populaons pre-dang
the Ashkenazi expansion throughout Central and
Eastern Europe. We focused on the most preva-
lent haplogroup in Europe, which also contains
subclades found almost exclusively among Ash-
kenazi Jews, to provide further insight into the
origins of the European Jewish communies. We
found gene ow within haplogroup H7, evidence
that will be benecial in assessing the origin of
other mitochondrial subclades found among
Jewish groups.
Acknowledgments
The authors gratefully acknowledge the construc-
ve criques provided by Leah Larkin, Ian Logan,
and two anonymous reviewers as well as the
assistance of Jacques Beaugrand, administrator
of the H7 MtGenome Project.
30
Appendix A. A Brief Consideraon of Mediterra-
nean and Jewish History
Historical consideraons in mtDNA genec stud-
ies tend to focus on prehistoric Europe because
of the ages of many haplogroups and, in parc-
ular, the last glacial maximum and its impact on
human migraons (Roostalu et al., 2007). Oen
overlooked, , however, is that following these
events many thousands of years ago, human
migraon connued unabated and, with it, the
corresponding gene ow between dierent
parts of Europe, Western Asia, and North Africa
(e.g., Brotherton et al., 2013 re Haplogroup H in
Europe).
One of the most important facilitators of migra-
on between these geographical areas was the
Mediterranean. As Abulaa (2003) pointed out,
thanks to the ease of movement across the open
sea, lands far removed from each other enjoyed
vibrant trading, cultural, and polical es. Fur-
thermore, from the Mediterranean, access could
be gained to the European network of big riv-
ers, such as the Danube and the Rhine, further
facilitang the movement of goods and people
from the Mediterranean basin inland into Central
Europe. There is no doubt that this movement
around the Mediterranean basin has very an-
cient roots. Archaeological sites in Israel reveal a
Stone Age culture quite similar to that known in
the Western Mediterranean from the limestone
caves of Spain, France, and Northern Italy (Suano,
2003).
The Mycenaeans in the 14th century BCE were the
rst to start intensively traversing the Mediterra-
nean carrying trade between the Aegean and the
Levanne coastal cies, thus linking these regions
to the central Mediterranean and, on occasion,
Iberia. Permanent selements of Mycenaeans
have been idened on the coast of southern
Italy, in Sicily, and in Sardinia (Torelli, 2003). The
commercial trac of the Mediterranean through-
out the pre-Roman age was marked by colonial
selement as much as by mercanle contact.
Following the collapse of the Mycenaean empire
and the rise of classical Greece and Phoenicia,
the trade rivalry between the Greeks and Phoeni-
cians and the ensuing bale over the Mediterra-
nean trading routes between 1,000 BCE and 300
BCE led to the development of a wide ranging
network of trading selements and colonies.
Colonies in Carthage and the ring of emporia in
Libya, Motya, and Soluntum in Sicily; the harbors
in Sardinia; and the bases and trading staons
at Ibiza in the Baleric Islands, Cadiz beyond the
straits of Gibraltar, and along the Moroccan Coast
allowed the Phoenicians to dominate many of the
trade routes straddling North Africa, Iberia, and
the Levant. The Greeks as well as the Etruscans
developed rival trading routes covering much of
Southern Europe, the Adriac, the Black Sea, and
Asia Minor (Torelli, 2003).
The key period of Mediterranean unicaon
occurred, however, under the rule of imperial
Rome. For a period of roughly 800 years (300
BCE–500 CE) the whole Mediterranean was
polically unied. As Rickman (2003) stated, “it
is hardly surprising that a sea which the Romans,
and the polyglot populaons under their control
had so thoroughly made their own …. should
witness not just the circulaon of goods, but
also of people”. Military conquests during the
Republic (300–100 BCE) and the expansion of the
Roman Empire brought to the Italian peninsula
signicant economic migraon of free immigrants
as well as slaves from Gaul, Hispania, Germania,
Magna Graecia, Asia Minor, Phoenicia, Egypt, and
North Africa (Noy, 2000; Scheidel, 2004). Scheidel
(2004) esmates that around 2 million people im-
migrated to Rome just during the last two centu-
ries BCE while, according to Noy (2000), over 10%
of foreigners buried at Rome came there from
North Africa, and most were civilians rather than
associated with the military (see Killgrove, 2010,
2013). The movements of people were not just
to Rome. The names of the units staoned on
Hadrian’s Wall reveal how widely Rome recruited
its auxiliary regiments, from Spain, Gaul, Germa-
ny, the lands along the Danube, Asia Minor, Syria,
and North Africa (Vindolanda, 2016).
Jewish history is intertwined with Mediterranean
history. The formave stages of the Jewish dias-
pora occur during the period of the Mare Nos-
trum (or ‘our [Roman] sea’). There is a tendency
to confuse the Iron-Age Israelites of the 8th and
Journal of Genec Genealogy 8(1):21-34, 2016
31
Journal of Genec Genealogy 8(1):21-34, 2016
9th centuries BCE with the Jewish populaon liv-
ing in the Roman province of Judea nearly 1,000
years later just prior to the great revolt of 65–70
CE, however, while undoubtedly some of those
living in Judea as Jews during the 1st century CE
were the genec descendants of the inhabitants
of the ancient kingdoms of Israel and Judah,
many others were not. The four centuries fol-
lowing the Babylonian conquest of Judah in 586
BCE had seen major polical and demographic
changes taking place in the land of Israel. Faust
(2012) has persuasively shown that, based on
the archaeological evidence, Judah experienced
drasc demographic decline due to the war, sub-
sequent famine, and epidemics that followed the
conquest. Connuity in the following centuries
with the Iron Age society of Judah was limited.
There were survivors, and some of the popula-
on exiled to Babylon must have returned, but
populaon recovery in the region must have also
been triggered by new selers from neighboring
regions (Faust, 2012). Following its conquest by
Alexander the Great in 332 BCE, Judea was no
longer merely a buer state between Egypt and
Mesopotamia; it now formed the eastern edge of
what was quickly becoming a pan-Mediterranean
empire — the Roman ‘Mare Nostrum’. By 63 BCE,
Judea was a client state of Rome and by 6 CE a
Roman province.
In Goodman’s (1994) thorough research into
proselytes and proselyzing to Judaism during
the period of the Roman Empire, he concluded
that there is evidence that prior to 65 CE, con-
verts made up a signicant proporon of the
Jewish populaon and that Jews accepted as
proselytes those genles who applied to join
their number, although they did not feel com-
pelled to encourage such conversions. As exam-
ples, Goodman (1994) referred to the spread of
Jewish selement in the diaspora, the increase in
the populaon of Judea apparent from archae-
ological survey, and Josephus’ recording of the
conversion en masse of neighboring populaons
such as the Idumeans and the Ituraeans by the
Hasmonaean dynasty.
In the post-70 CE period, ambivalence by Rabbini-
cal authories towards the proselyzaon of gen-
les meant that conversion to Judaism was far
less common, although there is some evidence
of proselytes to Judaism all the way through
into the medieval period (Goodman, 1994). This
was especially true aer the failed Bar Kokhba
rebellion during Hadrian’s rule and the passage of
legislaon by Hadrian and his successors against
the circumcision of non-Jews, the special Jewish
tax (the scus Judaicus), and a series of Roman
laws in the 4th and 5th centuries prohibing
conversion to Judaism, parcularly by Chrisans.
Furthermore, as Goodman (1994) pointed out,
some conversions to Judaism probably took place
to facilitate marriage. Considering the patriar-
chal nature of both Jewish and Roman sociees,
as well as the prohibion on circumcision that
prevented men (but not women) from convert-
ing, many of the converts to Judaism to facilitate
marriage were likely women.
How many of these conversions would have
taken place in Europe? As can be seen in Table 1
based on the esmates of Bocini and Eckstein
(2012), prior to 65 CE the majority of the Jewish
populaon throughout the Middle East and the
Mediterranean basin were located in the lands
of Israel, Mesopotamia, Persia, and North Afri-
ca (mainly Egypt), while the number of Jews in
Western Europe was relavely small and by 650
CE was negligible (~1,000). Thus the vast majority
of conversion to Judaism during this period must
have occurred outside of Europe in the Levant,
Egypt, and Mesopotamia.
Furthermore, in a detailed study by Toch (2005)
of Jews in Europe between 500–1050 CE, he
concluded that between the mid-7th and mid-8th
centuries, no source menons Jews in Frankish
lands (now France and Germany). Only in the 8th
and 9th centuries was there evidence of growing
numbers of Jews in the South of France, while in
the 9th and early 10th centuries, brief hints aest
to inerant merchants in Germany. Toch (2005),
therefore, concluded that no connuity could be
assumed between the Jews of the Roman Empire
and the Ashkenazi Jewish communies of the
Middle Ages.
From a genec perspecve, based on this histori-
cal overview, maternal lineages restricted to Jew-
32
ish populaons that pre-date 650 CE are highly
unlikely to have originated in either Western or
Eastern Europe, given the miniscule numbers of
Jews in these regions during this period.
Journal of Genec Genealogy 8(1):21-34, 2016
33
Table 1. Jewish populaon esmates in 65 CE and 650 CE (as per Bocini and Eckstein, 2012).
Region c. 65 CE c. 650 CE
Land of Israel 2,500,000 100,000
Mesopotamia and Persia (including the Arabian Peninsula) 1,000,000 700,000–900,000
North Africa (mainly Egypt) 1,000,000 4,000
Syria and Lebanon 200,000–400,000 5,000
Asia Minor and the Balkans 200,000–400,000 40,000
Western Europe (including Italy, France Germany, and Iberia) 100,000–200,000 1,000
Eastern Europe – –
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