The Balkan ancient branch: the oldest trace of R1a1 haplogroup?
Wednesday, 12. August 2009, 14:08:10
A series of 67 haplotypes of haplogroup R1a1 from the Balkans was published (Barac et al., 2003a, 2003b; Pericic et al., 2005). They were presented in a 9-marker format only.
The respective haplotype tree is shown in Fig. 9
Figure 9. The 9-marker haplotype tree for the Balkans, haplogroup R1a1.
The 67-haplotype tree was composed from data published (Barac et al., 2003a, 2003b; Pericic et al., 2005).
One can see a remarkable branch on the left-hand side of the tree which stands out as an “extended and fluffy” one. These are typically features of a very old branch compared with others on the same tree. Also, a common feature of ancient haplotype trees is that they are typically “heterogeneous” ones and consist of a number of branches.
The tree in Fig. 9.includes a rather small branch of twelve haplotypes on top of the tree, which contains only 14 mutations. This results in 0.130±0.035 mutations per marker, or 1,850±530 years to a common ancestor. Its base haplotype
13-25-16-10-11-14-X-Y-Z-13-11-30
is exactly the same as that in Russia and Germany.
The wide 27-haplotype branch on the right contains 0.280±0.034 mutations per marker, which is rather typical for R1a1 haplotypes in Europe. It gives typical in kind 4,350±680 years to a common ancestor of the branch. Its base haplotype
13-25-16-11-11-14-X-Y-Z-13-11-30
is again typical for Eastern European R1a1 base haplotypes, in which the fourth marker (DYS391) often fluctuates between 10 and 11. Of 44 Russian-Ukrainian haplotypes (Fig. 7), 23 haplotype have “10”, and 21 have “11” in that locus. In 67 German haplotypes, discussed above, 43 haplotypes have “10”, 23 have “11” and one has “12”. Hence, the Balkan haplotypes from this branch are more close to the Russian haplotypes than to German ones.
The “extended and fluffy” 13-haplotype branch on the left contains the following haplotypes:
13 24 16 12 14 15 13 11 31
12 24 16 10 12 15 13 13 29
12 24 15 11 12 15 13 13 29
14 24 16 11 11 15 15 11 32
13 23 14 10 13 17 13 11 31
13 24 14 11 11 11 13 13 29
13 25 15 9 11 14 13 11 31
13 25 15 11 11 15 12 11 29
12 22 15 10 15 17 14 11 30
14 25 15 10 11 15 13 11 29
13 25 15 10 12 14 13 11 29
13 26 15 10 11 15 13 11 29
13 23 15 10 13 14 12 11 28
The set does not contain a haplotype which can be defined as a base. This is because common ancestor lived too long ago, and all haplotypes of his descendants living today are extensively mutated. In order to determine when that common ancestor lived, we have employed three different approaches, described in the preceding paper (Part 1), namely the “linear” method with the correction for reverse mutations, the ASD method based on a deduced base (ancestral) haplotype, and the permutational ASD method (no base haplotype considered). The linear method gave the following deduced base haplotype, an alleged one for a common ancestor of those 13 individuals from Serbia, Kosovo, Bosnia and Macedonia:
13-24-15-10-12-15-X-Y-Z-13-11-29
The bold notations identify deviations from typical ancestral (base) East-European haplotypes. The third allele (DYS19) is identical to the Atlantic and Scandinavian R1a1 base haplotypes. All 13 haplotypes contain 70 mutations from this base haplotype, which gives 0.598±0.071 mutations on average per marker, and results in 11,425±1,780 years from a common ancestor.
The “quadratic method” (ASD) gives the following “base haplotype” (the unknown alleles are eliminated here, and the last allele is presented as the DYS389-2 notation)
12.92 – 24.15 – 15.08 – 10.38 – 12.08 – 14.77 – 13.08 – 11.46 – 16.62
A sum of square deviations from the above haplotype results in 103 mutations total, including reverse mutations “hidden” in the linear method. Seventy “observed” mutations in the linear method amount to only 68% of the “actual” mutations including reverse mutations. Since all 13 haplotypes contain 117 markers, the average number of mutations per marker is 0.880±0.081, which corresponds to 0.880/0.00189 = 466±62 generations or 11,650±1,550 years to a common ancestor. 0.00189 is the mutation rate (in mutations per marker per generation) for the given 9-marker haplotypes (the preceding paper, Part 1).
A calculation of 11,650±1,550 years to a common ancestor is practically the same as 11,425±1,780 years, obtained with linear method and corrected for reverse mutations.
The all-permutation “quadratic” method (Adamov & Klyosov, 2008) gives 2,680 as a sum of all square differences in all permutations between alleles. When divided by N2 (N = number of haplotypes, that is 13), by 9 (number of markers in haplotype), and by 2 (since deviation were both “up” and “down”), we obtain an average number of mutations per marker equal to 0.881. It is near exactly equal to 0.880 obtained by the quadratic method above.
Naturally, it gives again 0.881/0.00189 = 466±62 generations or 11,650±1,550 years to a common ancestor of the R1a1 group in the Balkans.
The obtained data suggest that the first bearers of R1a1 haplogroup lived in the Balkans (Serbia, Kosovo, Bosnia, Macedonia) between 10 and 13 thousand years bp. It is unknown whether R1a1 appeared in the Balkans, presumably from R1 or R1a, or arrived from a yet unknown location. It was found (Klyosov, 2008a) that haplogroup R1b appeared about 16,000 years bp, apparently in Asia.
The data shown above suggests that only about 6,000-5,000 years bp bearers of R1a1 began to mobilize and migrate to the west toward the Atlantics, to the north toward the Baltic Sea and Scandinavia, to the east to the Russian plains and steppes, to the south to Asia Minor, the Middle East, and far south to the Arabian Sea. All of those local R1a1 haplotypes point at their common ancestors who lived around 4,800 to 4,500 years bp.
On their way through the Russian plains and steppes the R1a1 tribe presumably sat up the Kurgan archaeological culture, apparently domesticated the horse, advanced to Central Asia and left the “Aryan population” which dated about 4,500 years bp. They then moved to the Ural mountains about 4,000 years bp and migrated to India as the Aryans circa 3,600-3,500 years bp. Presently, 16% of the male Indian population, or approximately 100 million people, bear R1a1 haplogroup’s SNP mutation, with their common ancestor of 4,300±560 years bp, of times back to the Andronovo archaeological culture and the Aryans in the Russian plains and steppes . The current Indian R1a1 haplotypes are practically indistinguishable from Russian, Ukrainian, and Central Asian R1a1 haplotypes, as well as from many West and Central European R1a1 haplotypes. These populations speak languages of the Indo-European language family.
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