mtDNA of Poles and Russians

[Polak]

Mitochondrial DNA variability in Poles and Russians
B. A. MALYARCHUK", T. GRZYBOWSKI#, M. V. DERENKO", J. CZARNY#, M. WOZ; NIAK#
and D. MIS; CICKA-S; LIWKA#
" Institute of Biological Problems of the North, Russian Academy of Sciences, Portovaya str. 18,
685000 Magadan, Russia
# The Ludwik Rydygier University School of Medical Sciences, Forensic Medicine Institute,

Mitochondrial DNA (mtDNA) sequence variation was examined in Poles (from the Pomerania-
Kujawy region; nØ436) and Russians (from three diåerent regions of the European part of Russia;
nØ201), for which the two hypervariable segments (HVS I and HVS II) and haplogroup-speciÆc
coding region sites were analyzed. The use of mtDNA coding region RFLP analysis made it possible
to distinguish parallel mutations that occurred at particular sites in the HVS I and II regions during
mtDNA evolution. In total, parallel mutations were identiÆed at 73 nucleotide sites in HVS I
(17±8%) and 31 sites in HVS II (7±73%). The classiÆcation of mitochondrial haplotypes revealed the
presence of all major European haplogroups, which were characterized by similar patterns of
distribution in Poles and Russians. An analysis of the distribution of the control region haplotypes
did not reveal any speciÆc combinations of unique mtDNA haplotypes and their subclusters that
clearly distinguish both Poles and Russians from the neighbouring European populations. The only
exception is a novel subcluster U4a within subhaplogroup U4, deÆned by a diagnostic mutation at
nucleotide position 310 in HVS II. This subcluster was found in common predominantly between
Poles and Russians (at a frequency of 2±3% and 2±0%, respectively) and may therefore have a
central-eastern European origin.

Haplogroup Poles (436) Russians (201)
H 197 (45±18) 85 (42±29)
HV* 4 (0±92) 4 (1±99)
pre-V 21 (4±82) 11 (5±47)
pre-HV 0 1 (0±50)
J 34(7±80) 16 (7±96)
T* 41 (9±40) 18 (8±96)
T1 9 (2±06) 4 (1±99)
K 15(3±44) 6 (2±99)
U1 0 2 (1±00)
U2 4 (0±92) 3 (1±49)
U3 2 (0±46) 2 (1±00)
U4 22 (5±05) 7 (3±48)
U5 38 (8±72) 21 (10±45)
U7 1 (0±23) 1 (0±50)
U8 2 (0±46) 0
U* 1 (0±23) 0
I 8(1±83) 5 (2±49)
W 16(3±67) 4 (1±99)
X 8(1±83) 7 (3±48)
N1b 1 (0±23) 0
N1c 1 (0±23) 0
R* 2 (0±46) 1 (0±50)
L3 1 (0±23) 0
M 8(1±83) 3 (1±49)

"±" stands for "."

We have
observed members of the haplogroups C, D, E, G
and M* in Poles and Russians at a frequency of
1±8% and 1±5%, respectively.

In addition, both
Polish and Russian samples are characterized by
the presence of the Saami-speciÆc U5b-motif
(16144-16189-16270) found at a frequency of
0±5% in Poles and 1±5% in Russians.

Taking into account the data presented in
Tables 6 and 7, one can conclude that we were
not able to Ænd any speciÆc combinations of
unique mtDNA haplotypes and their subclusters
clearly distinguishing Poles and Russians, as
Slavonic-speaking populations, from the neighboring
European populations such as Germans
and Finns. This trend was also noted in a
previous study on the HVS I-RFLP variation in
Russians in comparison with Western and Eastern
European populations (Malyarchuk &
Derenko, 2001). One possible exception is subgroup
U4a. This subgroup comprises 10 (2±3%)
out of 436 Poles, 4 (2±0%) out of 201 Russians, 2
(0±4%) out of 560 Germans (Parson et al. 1998;
Baasner & Madea, 2000) and 1 (0±25%) out of
403 Finns (Finnila$ et al. 2001a). Given the
relatively high frequency and diversity of U4a
among Poles and Russians and its low frequency
in the neighbouring German and Finnish populations,
one can suggest a central-eastern
European origin of U4a. It is possible that the
subsequent dispersal of this mtDNA subgroup in
Eastern European populations was due to
Slavonic migrations.


Haplogroup M (further divided into C, D, E, G and Z) is considered to be Mongolid. So are A, B and F, though these were not found during this particular study.

[Polak]

Here's a further study that compares the above data to that from Slovenia and Bosnia...

Mitochondrial DNA variability in two Slavonic-speaking populations of the northwestern Balkan peninsula,
Bosnians (N = 144) and Slovenians (N = 104), was studied by hypervariable segments I and II (HVS I and
II) sequencing and restriction fragment-length polymorphism (RFLP) analysis of the mtDNA coding region. The
majority of the mtDNA detected in Southern Slavonic populations falls into the common West Eurasian mitochondrial
haplogroups (e.g., H, pre-V, J, T, U, K, I, W, and X). About 2% of the Bosnian mtDNAs encompass East
Eurasian and African lineages (e.g., M and L1b, respectively). The distribution of mtDNA subclusters in Bosnians,
Slovenians and the neighbouring European populations reveals that the common genetic substratum characteristic
for Central and Eastern European populations (such as Germans, Poles, Russians and Finns) penetrates also South
European territories as far as the Western Balkans. However, the observed differentiation between Bosnian and
Slovenian mtDNAs suggests that at least two different migration waves of the Slavs may have reached the Balkans
in the early Middle Ages.

The study of Croatians revealed that their
mtDNA cluster composition, as well as frequency pattern,
is generally similar to other European and Near
Eastern populations, with some deviations toward Asian
(A, F) and African (L2a) mtDNA haplogroups (Tolk
et al. 2000).

Table 3 Haplogroup distributions (no.
of individuals and % values in parentheses)
in Bosnians and Slovenians in comparison
with Poles and Russians
Haplogroup Bosnians (144) Slovenians (104) Poles (436) Russians (201)
H 69 (47.92) 49 (47.12) 197 (45.18) 85 (42.29)
HV∗ 1 (0.69) 0 4 (0.92) 4 (1.99)
pre-V 9 (6.25) 7 (6.73) 21 (4.82) 11 (5.47)
pre-HV 2 (1.39) 0 0 1 (0.50)
J 10 (6.94) 10 (9.62) 34 (7.80) 16 (7.96)
T∗ 5 (3.47) 5 (4.81) 41 (9.40) 18 (8.96)
T1 2 (1.39) 1 (0.96) 9 (2.06) 4 (1.99)
K 6 (4.17) 4 (3.85) 15 (3.44) 6 (2.99)
U1 2 (1.39) 0 0 2 (1.00)
U2 0 1 (0.96) 4 (0.92) 3 (1.49)
U3 1 (0.69) 2 (1.92) 2 (0.46) 2 (1.00)
U4 8 (5.56) 6 (5.77) 22 (5.05) 7 (3.48)
U5a 10 (6.94) 8 (7.69) 23 (5.28) 15 (7.46)
U5b 7 (4.86) 3 (2.88) 15 (3.44) 6 (2.99)
U7 0 0 1 (0.23) 1 (0.50)
U8 0 0 2 (0.46) 0
U∗ 0 0 1 (0.23) 0
I 4 (2.78) 2 (1.92) 8 (1.83) 5 (2.49)
W 2 (1.39) 5 (4.81) 16 (3.67) 4 (1.99)
X 2 (1.39) 1 (0.96) 8 (1.83) 7 (3.48)
N1b 1 (0.69) 0 1 (0.23) 0
N1c 0 0 1 (0.23) 0
R∗ 0 0 2 (0.46) 1 (0.50)
L1b 1 (0.69) 0 0 0
L3 0 0 1 (0.23) 0
M 2 (1.39) 0 8 (1.83) 3 (1.49)
h (±s.e.) 0.75 ± 0.04 0.75 ± 0.04 0.77 ± 0.02 0.80 ± 0.03

Slovenians have a high frequency (4.8%) of
subcluster 16162, which is characteristic for Central and
Eastern European populations (especially for Germans
and Finns), but seems not to be typical for Southern
Europeans, including Bosnians. However, the western
neighbors of Slovenians, Veneto-speaking Italians from
Barco and Posina, possess this H-subcluster at a high
frequency of about 6% (Mogentale-Profizi et al. 2001).
It should be noted, however, that Italian Veneti differ
greatly from Slovenians by an increased frequency of
the haplogroup TJ (35% on average; Mogentale-Profizi
et al. 2001).


Distribution of other mtDNA lineages seems to re-
flect the historical contacts between populations of the
Northwestern Balkans and Northern/Eastern Europe.
The U5b1-lineage with motif 16144-16189-16270 occurs
at a frequency of 1.4% in Bosnians, but it is well
known that this U5-subcluster has a restricted Northern/
Eastern European distribution, being found frequently
(8%–52%) in Finns and Saami as well as rarely
(0.5%–1.5%) in Slavonic (Russians and Poles) and Baltic
(Lithuanians) populations (Sajantila et al. 1995; Orekhov
et al. 1999; Meinil et al. 2001; Kasperaviciute &
Kucinskas, 2002; Malyarchuk et al. 2002). In addition,
Bosnians are characterized by the presence of the
Asian-specific haplogroup Z (0.7%), which was previously
revealed in Europe in Saami, Finns and Russians
(Sajantila et al. 1995; Delghandi et al. 1998; Orekhov
et al. 1999; Malyarchuk & Derenko, 2001; Meinil et al.
2001). In Slovenians, the U5a-lineage defined by the
substitution 16114A was found at a relatively high frequency
of 3.8%. To date, this lineage that has been found with a similarly high frequency only in Finns
(Meinil et al. 2001). In addition, Slovenians are characterized
by the presence of another lineage frequently
occurring in Finns – the U5b-haplotype 16192-16311
(Table 5).

This suggests that the common genetic
substratum observed in modern German, Slavonic and
western Finno-Ugric populations also penetrates also
South East European populations, reaching territory as
far as the Western Balkans.

[Vojvoda]

Who did they study in Bosnia? Serbs, Croats, or Muslims?

[Polak]

Who did they study in Bosnia? Serbs, Croats, or Muslims?

I don't know? Probably Muslims.

There was another study of Croatians done before, and they were a little different from these Bosnians.

Interesting thing is that the Bosnians here show East Asian Haplogroup M (1.4%), as well as sub-Saharan Haplogroup L1b (0.7%).

On the other hand, the Croatians showed small amounts of Haplogroups A and F, which are also said to be Asian, especially F.

Then again, Poles show a frequency of M of about 1.8%, just slightly higher than Russians (1.5%).

[Polak]

Hmm...

"In Asia, 77% of all mtDNA are encompassed within a super-haplogroup M defined by a DdeI site gain at bp 10394 and an AluI site gain at bp 10397 (Ballinger et al. 1992a, Torroni et al. 1993, Chen et al. 1995b, Wallace 1995). Haplogroup M is subdivided into smaller sub-haplogroups designated C, D, G and E. Most of the remaining Asian mtDNA are encompassed by haplogroups A, B and F (Torroni et al. 1994)."

So I would like to know which sub-divisions of M were found in Poland, as C and D are known to improve resistance to cold.

And they are also found in Iberia (1.4%) and other parts of western Europe in small amounts.

[Polak]

Also, it seems some of M may have found its way into European populations before the Caucasoid/Mongoloid split.

"MtDNA haplogroup (Hg) M appears at the highest frequency among both tribal and caste populations of India. Hg M is also the major component of the mtDNA genepool to the east and to the north of India while a sharp cline exists to the west: in Iran, Hg M frequency is a mere 5%. Phylogeny of haplogroup M in Indian populations differs profoundly from that observed in east and central Asian populations, where Hg M sub-haplogroups D, E, G, C, Z constitute the bulk of Hg M lineages. The coalescence times of both, the eastern Asian and the Indian haplogroup M have been estimated to be over 50 000 BP. Note that the term coalescence time refers to the time since the start of expansion of a lineage not to the age of a lineage. The given coalescence times suggest that the two macro-populations started to expand separately but simultaneously and since then, there has been only very limited gene flow between India and eastern Asia. The lack of any signs for extensive re-migrations of eastern Asians to India is further supported by the scarcity of mtDNA lineages belonging to haplogroups A, B and F in India."

[Polak]

Here's more info on Haplogroup F in Croatia...


The evidence of mtDNA haplogroup F in a European
population and its ethnohistoric implications

Mitochondrial DNA polymorphism was analysed in a sample of 108 Croatians from the Adriatic Island isolate
of Hvar. Besides typically European varieties of human maternal lineages, haplogroup F was found in a
considerable frequency (8.3%). This haplogroup is most frequent in southeast Asia but has not been reported
before in Europe. The genealogical analysis of haplogroup F cases from Hvar suggested founder effect.
Subsequent field work was undertaken to sample and analyse 336 persons from three neighbouring islands
(Brac, Korcula and Krk) and 379 more persons from all Croatian mainland counties and to determine if
haplogroup F is present in the general population. Only one more case was found in one of the mainland
cities, with no known ancestors from Hvar Island. The first published phylogenetic analysis of haplogroup F
worldwide is presented, applying the median network method, suggesting several scenarios how this
maternal lineage may have been added to the Croatian mtDNA pool. European Journal of Human Genetics (2001)