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Thread: Details on Y-chr and mtDNA haplogroups (origin, evolution and expansion)

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    Arrow mtDNA Haplogroups

    mtDNA ( Mitochondrial DNA), found in every mitochondrion within every human cell, due to the mitochondrion in essense being a prokaryotic cell which forms a symbiotic relationship with the eukaryotic cell by which it is engulfed in, is passed down from mother to her children, thus being a tracer of maternal lineages.

    Seven main mtDNA haplogroups are found among today's Europeans ( Syke's The Seven Daughter's of Eve).

    http://www.roperld.com/mtdna.htm

    Haplogroups and % of Europeans

    H 47
    J 17
    U 11
    T 9
    K 6
    X 6
    V 5

    ( For some reason, the % figures add up to 101 %, when they should be about 95%)

    Haplogroups W and I are also present among Europeans, although to lesser incidences when compared to the above seven.

    Haplogroups H, T, U, V, W, and X are common among Northern Europeans, whereas haplogroups I, J, and K are more frequent in Southern Europe.

    Haplogroup X is supposedly indicitive of Viking ancestry, and, although of European Origin, is one of five haplogroups common to Native Americans (A, B, C, D, and X).

    All European Haplogroups are derived from haplogroup N, which is common among Near-Eastern peoples.

    Haplogroups L1, L2, and L3 are found in Sub-Saharan Africa, and are reflective of Congoid ancestry.
    Last edited by Tore; Thursday, July 31st, 2003 at 11:57 PM.

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    Quote Originally Posted by Trønder
    mtDNA ( Mitochondrial DNA), found in every mitochondrion within every human cell, due to the mitochondrion in essense being a prokaryotic cell which forms a symbiotic relationship with the eukaryotic cell by which it is engulfed in, is passed down from mother to her children, thus being a tracer of maternal lineages.

    Seven main mtDNA haplogroups are found among today's Europeans ( Syke's The Seven Daughter's of Eve).

    http://www.roperld.com/mtdna.htm

    Haplogroups and % of Europeans

    H 47
    J 17
    U 11
    T 9
    K 6
    X 6
    V 5

    ( For some reason, the % figures add up to 101 %, when they should be about 95%)

    Haplogroups W and I are also present among Europeans, although to lesser incidences when compared to the above seven.

    Haplogroups H, T, U, V, W, and X are common among Northern Europeans, whereas haplogroups I, J, and K are more frequent in Southern Europe.

    Haplogroup X is supposedly indicitive of Viking ancestry, and, although of European Origin, is one of five haplogroups common to Native Americans (A, B, C, D, and X).

    All European Haplogroups are derived from haplogroup N, which is common among Near-Eastern peoples.

    Haplogroups L1, L2, and L3 are found in Sub-Saharan Africa, and are reflective of Congoid ancestry.

    Haplogroup X is also common in Slavs and in some Central Asian groups. It may be that this is what's left of the old Nordic populations that stretched all the way to western China in ancient times. Some of the founders of the native American population may have come from this group.
    Last edited by Polak; Friday, August 1st, 2003 at 02:48 AM.

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    http://abcnews.go.com/sections/scien...ers000420.html

    The Seven Daughters of Eve


    Professor Sykes and his team have created profiles for each of the seven matriarchal groups. They are:
    Helena(H) — This clan lived in the ice-capped Pyrenees. As the climate warmed, Helena’s descendants trekked northward to what is now England, some 12,000 years ago. Members of this group are now present in all European countries.
    Jasmine(J) — Her people had a relatively happy life in Syria, where they farmed wheat and raised domestic animals. Jasmine’s descendants traveled throughout Europe, spreading their agricultural innovations with them.
    Katrine(K) — Members of this group lived in Venice 10,000 years ago. Today most of Katrine’s clan lives in the Alps.
    Tara(T) — Sykes’ maternal ancestry goes back to this group, which settled in Tuscany 17,000 years ago. Descendants ventured across northern Europe and eventually crossed the English Channel.
    Ursula(U) — Users of stone tools, Ursula’s clan members drifted across all of Europe.
    Valda(V) — Originally from Spain, Valda and her immediate descendants lived 17,000 years ago. Later relatives moved into northern Finland and Norway.
    Xenia(X) — Not much is known about Xenia, but it is believed that her people lived in the Caucasus Mountains 25,000 years ago. Just before the Ice Age, this clan spread across Europe, and even reached the Americas.
    ________________________________________ ____________

    From this, we can safely say:

    H is Upper Paleolithic
    J is Neolithic
    T is Nordic/ Germanic
    X is some sort of Indo-European Gene-Marker
    V is Uralic-affiliated (although maternal lines in Finland are strikingly different from Paternal ones, which are strongly Uralic)

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    Post of relevence...

    http://www.racearchives.com/archived...D=882625758648

    Mitochondrial DNA subject to selection by climate

    A subtle trade-off between energy used for heat or for muscle power apparently helped humans adapt and exploit cold regions during the last ice age, scientists report.

    Today, the people who evolved ways to cope with cold are known as northern Europeans, descendants of original settlers who eked out a living under harsh northern conditions as the burden of glacial ice was retreating.

    According to new evidence from genetic tests - backed up by experiments with swimming sperm - some of our ancestors became more "fit" for life in the cold, compared to others living farther south. Perhaps 20,000 years ago, this adaptation arose through a subtle metabolic shift, based on a gene mutation that allows northerners to spend more food energy for heat.

    In contrast, people in less frigid zones balance their energy production more toward keeping muscles going, rather than for heat production. And how energy is used - either for heat or for powering movement - can be measured by watching how vigorously sperm cells swim. Sperm from men "programmed" for more muscle power tend to swim faster, compared to sperm from men who are better at heat production.

    The discovery comes from an analysis of an odd set of genes found inside the cell's "energy factory," the mitochondrion. Every cell contains thousands of these tiny sausage-shaped mitochondria, which are responsible for "burning" nutrients and oxygen to produce energy...

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    Post and...

    Mitochondria can be inherited from both parents

    http://www.racearchives.com/archived...D=148861110211

    Mitochondria may not be inherited solely through the maternal line, according to new research that promises to overturn accepted biological wisdom.

    If confirmed by other researchers, the findings could have huge implications for evolutionary biology and biochemistry.

    Robert Sanders Williams, from Duke University Medical Center in North Carolina, says the findings are "remarkable and unanticipated. This is more than a mere curiosity. It asserts the principle that it can occur in humans. It could have significant implications for the study of human evolution and the migrations of populations," he says.

    For decades biologists have assumed that mitochondria - the cells' power stations - are inherited solely through the maternal line.

    Mitochondria in the sperm from the father were presumed to be destroyed immediately after conception, leaving behind only those from the mother. But Marianne Schwartz and John Vissing from the University Hospital Rigshospitalet in Copenhagen, have discovered that one of their patients inherited the majority of his mitochondria from his father.

    "Even with very sensitive methods, paternal mitochondrial DNA has never been detected in man before," Schwartz told Reuters. "There are many examples of family pedigrees that follow mitochondrial diseases through the maternal line..."


    (cont'd)

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    Post On a side note...

    I just requested The Seven Daughter's of Eve by Brian Sykes, an English geneticist, from my local library.

    The book deals with mitochondrial DNA and how it corresponds to various European populations, in terms of haplogroup frequency etc.

    Should be of interest...

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    Quote Originally Posted by Trønder
    I just requested The Seven Daughter's of Eve by Brian Sykes, an English geneticist, from my local library.

    The book deals with mitochondrial DNA and how it corresponds to various European populations, in terms of haplogroup frequency etc.

    Should be of interest...

    If you could maybe give us some data from that book, such as the haplogroup frequency for Slavic populations, that would be fantastic.

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    Polish Y-chromosomes
    Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis

    Rafal Ploski et al.

    Hum Genet (2002) 110: 592-600

    Abstract.
    Different regional populations from Poland were studied in order to assess the genetic heterogeneity within Poland, investigate the genetic relationships with other European populations and provide a population-specific reference database for anthropological and forensic studies. Nine Y-chromosomal microsatellites were analysed in a total of 919 unrelated males from six regions of Poland and in 1,273 male individuals from nine other European populations. AMOVA revealed that all of the molecular variation in the Polish dataset is due to variation within populations, and no variation was detected among populations of different regions of Poland. However, in the non-Polish European dataset 9.3% (P<0.0001) of the total variation was due to differences among populations. Consequently, differences in RST-values between all possible pairs of Polish populations were not statistically significant, whereas significant differences were observed in nearly all comparisons of Polish and non-Polish European populations. Phylogenetic analyses demonstrated tight clustering of Polish populations separated from non-Polish groups. Population clustering based on Y-STR haplotypes generally correlates well with the geography and history of the region. Thus, our data are consistent with the assumption of homogeneity of present-day paternal lineages within Poland and their distinctiveness from other parts of Europe, at least in respect to their Y-STR haplotypes. Electronic supplementary material to this paper can be obtained by using the Springer LINK server located at
    http://dx.doi.org/10.1007/s00439-002-0728-0.


    ...

    Population samples from Germany and Russia also showed similarities to Polish populations, with relatively small RST-values on pairwise comparisons (0.0176-0.097). It is noteworthy that all but one of the comparisons between the six Polish populations and the Russians revealed statistically non-significant differences (0.05

    0.001). These genetic similarities are most probably a result of the common Slavic origin. On the other hand, small genetic distances between all of the Polish-German population pairs were statistically significant (P<0.0001), which might reflect the different background of Slavic-speaking and German-speaking populations. The significant differences revealed between Polish and German samples are especially striking, since the two populations have had close contact during the last millennium and both have inhabited the territory of present-day Poland. This demonstrates a continuous lack of admixture between Germans and Poles, most probably for social, religious and cultural reasons. Genetic difference between Germans and Poles have been reported previously, based on a 1-bp deletion at the Y-chromosomal marker M17 (haplotype Eu19; Semino et al. 2000), which has a high frequency in Poles (56%) but a much lower frequency in Germans (6%). However, other studies, using the Y-SNP marker SRY-1532b (synonym SRY 10831b, haplogroup 3), which characterises basically the same Y chromosome lineage (Tyler-Smith 1999; Wheale et al. 2001; The Y Chromosome Consortium 2002), have found a much higher frequency of ~30% in larger samples from Germany (M. Kayser, unpublished data; Rosser et al. 2000; Zerjal et al. 1999), which is still only about half the frequency in Poland

    I thought this abstract is of some importance to Polak.

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    Quote Originally Posted by Frans3108
    Polish Y-chromosomes
    Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis

    Rafal Ploski et al.

    Hum Genet (2002) 110: 592-600

    Abstract.
    Different regional populations from Poland were studied in order to assess the genetic heterogeneity within Poland, investigate the genetic relationships with other European populations and provide a population-specific reference database for anthropological and forensic studies. Nine Y-chromosomal microsatellites were analysed in a total of 919 unrelated males from six regions of Poland and in 1,273 male individuals from nine other European populations. AMOVA revealed that all of the molecular variation in the Polish dataset is due to variation within populations, and no variation was detected among populations of different regions of Poland. However, in the non-Polish European dataset 9.3% (P<0.0001) of the total variation was due to differences among populations. Consequently, differences in RST-values between all possible pairs of Polish populations were not statistically significant, whereas significant differences were observed in nearly all comparisons of Polish and non-Polish European populations. Phylogenetic analyses demonstrated tight clustering of Polish populations separated from non-Polish groups. Population clustering based on Y-STR haplotypes generally correlates well with the geography and history of the region. Thus, our data are consistent with the assumption of homogeneity of present-day paternal lineages within Poland and their distinctiveness from other parts of Europe, at least in respect to their Y-STR haplotypes. Electronic supplementary material to this paper can be obtained by using the Springer LINK server located at http://dx.doi.org/10.1007/s00439-002-0728-0.


    ...

    Population samples from Germany and Russia also showed similarities to Polish populations, with relatively small RST-values on pairwise comparisons (0.0176-0.097). It is noteworthy that all but one of the comparisons between the six Polish populations and the Russians revealed statistically non-significant differences (0.05

    0.001). These genetic similarities are most probably a result of the common Slavic origin. On the other hand, small genetic distances between all of the Polish-German population pairs were statistically significant (P<0.0001), which might reflect the different background of Slavic-speaking and German-speaking populations. The significant differences revealed between Polish and German samples are especially striking, since the two populations have had close contact during the last millennium and both have inhabited the territory of present-day Poland. This demonstrates a continuous lack of admixture between Germans and Poles, most probably for social, religious and cultural reasons. Genetic difference between Germans and Poles have been reported previously, based on a 1-bp deletion at the Y-chromosomal marker M17 (haplotype Eu19; Semino et al. 2000), which has a high frequency in Poles (56%) but a much lower frequency in Germans (6%). However, other studies, using the Y-SNP marker SRY-1532b (synonym SRY 10831b, haplogroup 3), which characterises basically the same Y chromosome lineage (Tyler-Smith 1999; Wheale et al. 2001; The Y Chromosome Consortium 2002), have found a much higher frequency of ~30% in larger samples from Germany (M. Kayser, unpublished data; Rosser et al. 2000; Zerjal et al. 1999), which is still only about half the frequency in Poland

    I thought this abstract is of some importance to Polak.

    Thank you Frans, that's an interesting article. It basically says that in terms of the Y-chromosome, we Poles are still very Slavic.

    But mtDNA tells a different story. It actually indicates that Poles are closely related to Germans and Austrians.

    "mtDNA and Slavic Ethnogenesis
    Russian Journal of Genetics 37 (12): 1437-1443, December 2001
    Differentiation and Genetic Position of Slavs among Eurasian Ethnic Groups as Inferred from Variation in Mitochondrial DNA
    B. A. Malyarchuk
    The distribution of identical and similar (phylogenetically related) types of hypervariable segment 1 (HVS1) of the mitochondrial DNA (mtDNA) was studied in human populations belonging to three Slavonic groups and nine ethnogeographic groups of Eurasia (total sample size 2772 people). The results testified to a common origin of West, South, and East Slavs and revealed a central place of West Slavs among all Slavonic ethnic groups. Mixing was shown to play a substantial role in the formation of specific features of all three Slavonic gene pools. The mitochondrial gene pools of the Slavonic ethnic groups proved to preserve features suggesting a common ancestor for these and South European populations (especially those of the Balkan Peninsula).
    ...
    (2) West Slavs occupy the central position among all
    Slavonic ethnic groups. The West Slavonic gene pool
    has the maximum number of rare common and similar
    mtDNA types as compared with the gene pools of Russians
    and Bulgarians, while these two Slavonic ethnic
    groups are only to an extent genetically similar to each
    other.
    (3) Interethnic interactions (mixing and assimilation)
    have played a substantial role in the formation of
    the genetic portrait of various Slavonic groups. West
    Slavs show a high genetic similarity to German ethnic
    groups (Germans, Austrians); Bulgarians are similar to
    the ethnic groups of the Balkan Peninsula; and Russians
    are similar to the Finno-Ugric ethnic groups of
    Northern and Eastern Europe.
    The results obtained allow the following conclusions.
    (4) The gene pools of all Slavonic ethnic groups
    show an appreciable similarity to the gene pools of
    South European ethnic groups and especially to the ethnic
    groups of the Balkan Peninsula. In addition, a substantial
    fraction of rare and unique mtDNA types found
    in the populations of Italy and Mediterranean islands
    have analogs in the gene pools of West and East Slavs.
    This testifies to a hypothesis that ancestors of modern
    Slavs originally diverged from South European populations
    to form an individual branch.
    ...
    From the anthropological viewpoint, the high
    genetic similarity between Russians and West Slavs can
    be explained on the basis of a hypothesis that the major
    anthropological type was brought to the Russian Plain
    from the west and the southwest by East Slavonic ethnic
    groups [21]. In addition, the above genetic data provide
    evidence in favor of the concept that the genetic
    features of modern Russians are determined by mixing
    of Slavs and the Finno-Ugric populations of Eastern
    Europe. Detection of common mtDNA types in the
    gene pools of Russians and Iranians suggests an ancient
    connection between Slavs and Scythian populations of
    the steppe zone of Eastern Europe (which is supported
    by the anthropological, linguistic, and archeological
    data [1-3, 20].
    ...
    Conclusion (4) that the Slavonic mitochondrial gene
    pool is similar to that of the Balkan populations is supported
    by linguistic data, as proto-Slavonic dialects are
    considered connected with the southeastern group of
    Indo-European dialects ([1], pp. 81-82).
    ...
    Note also that the data on mtDNA variation in the
    European populations are in general agreement with
    data on polymorphism of the Y chromosome [22]. As
    has been shown by now, a high similarity of the gene
    pools of West and East Slavs is evident from the distribution
    of paternal lines in the European populations.
    First of all, this concerns the distribution of line 92R7TSRY1532A
    in the Slavonic gene pools. The difference
    in gene pool between individual Slavonic groups have
    been attributed by their mixing with neighbors. For
    instance, a high (11.6% on average) frequency of line
    TatC in East Slavs can be explained by their intense
    contacts with Finno-Ugric European populations,
    which display the maximum (36% on average) frequency
    of this marker. It is clear that a complex
    approach utilizing data of molecular genetics and
    humanities is necessary for further analysis of the origin
    and differentiation of Slavonic ethnic groups."

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