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The European Relatives of the Yakuts
by Dmitry Adamov
Family Tree DNA’s Big Y test revealed that two men of European origin have the same SNP substitutions in the Y-chromosome as the Yakuts from the North-Eastern Siberia. The Time to the Most Recent Common Ancestor is estimated as 3100 years before the present, 95% CI: 2300—3900 years.
The Yakut are an indigenous population of the Sakha (Yakutia) Republic, Russia. According to Lippold et al. (2014), and Adamov (2014) about 90% of Yakut men have an M2019 base substitution in their Y-chromosomes. The M2019 mutation constitutes separate branch within haplogroup N-L839/L708.
The great majority of European N-L839/L708 samples belongs to the N-L1026/L392 branch, which is parallel to the N-M2019 branch. Branches N-M2019 and N-L1026/L392 separated about 6000 years BP (YFull Experimental YTree, 2015).
Materials and methods
Big Y is a commercial test offered by Family Tree DNA (Big Y White Paper, 2014). Big Y allows genotyping of between 11 and 13 million nucleotide base pairs with conﬁdence.
According to the Big Y test, two FTDNA project participants have the M2019 mutation. Both are of European origin and their paternal lines appear to be the same as the Yakut’s. The European samples will be referred to as Eur1 and Eur2.
Fortunately, there is one Yakut Big Y sample. The Yakut sample will be referred to as Yakut.
BAM and VCF files were used to determine Single Nucleotide Polymorphisms (SNPs) and some Y-STRs.
Y-STR haplotypes that we presumed had the M2019 mutation were collected from FTDNA projects and scientific papers. Sample selection was focused on the Yakut modal haplotype evaluated from Karmin et al. (2015) and Gao et al. (2015), see Table 1.
Table 1. The Yakut Y-STR modal haplotype
Main differences between M2019 and L1026/L392 STR haplotypes were also used at selection process, see Table 2.
Table 2. Main differences between M2019 and L1026/L392 Y-STR haplotypes.
Selected Y-STR haplotypes which are presumed to have the M2019 mutation are presented in Table 4 and Supplementary Table S2.
The Time to the Most Recent Common Ancestor (TMRCA) was estimated on SNP counts in the Big Y results. The method was described in Adamov et al. (2015). We used a constant of SNP mutation rate per base per year (Adamov et al., 2015).
The additional method of estimating the TMRCA employed Y-STR polymorphism. A version of the interclade ASD method was described in Adamov and Karzhavin (2011). The Y-STR mean mutation rate was taken as 0.00258 per locus per generation. We used the mean generation interval 31.5 years according to Fenner (2005).
Results and Discussion
A genealogical tree of Eur1 and Eur2 and Yakut is presented in Figure 1. Substitutions located in «combBED area» (Adamov et al., 2015) are shown. Full data are present in Supplementary Table S1.
Figure 1. Genealogical tree of Eur1, Eur2, and Yakut samples. Only «combBED area» SNPs are shown.
TMRCA of Eur1, Eur2, and Yakut is estimated as 3100 years BP, 95% CI: 2300—3900 years (the method was described in Adamov et al., 2015).
Samples Eur2 and Yakut share the single mutation M2058 in the «combBED area», so we conclude that their lines split 100—200 years later than Eur1 and Eur2 or about 2900—3000 years ago.
According to Karmin et al. (2015), the Eur2 sample belongs to the B182 lineage. Eur2 shares 14 SNPs with Lebn1 sample from Lebanon (B182 … 23567068). Hallast et al. (2014) explored 3.7 Mbp regions of Y-chromosome (about 30% of Big Y). There is tur-15 sample from Turkey which has seven common mutations with Eur2 in positions 2890144 (B182), 6779239, 14312514, 15122362, 15998116, 16037395, 17113344.
Eur1 mutations constitute separate paternal line.
There are known limited samples with M2019 or M2118 mutations (see Table 3). M2019 and M2118 are considered to be parallel mutations (Karmin et al., 2015).
Table 3. Y-chromosome samples with approved M2019 or M2118 substitutions.
All of the samples in Table 3 are accompanied by the PowerPlex 23 STRs. It allows us to confirm the collection method of presumed M2019 Y-STR haplotypes (see Table 4 and Supplementary Table S2). The N-M2019 haplotypes are very rare worldwide excluding Yakutia.
We determined that short tandem repeats in DYS393 of the B182 lineage are extremely high, 15 or even 16 repeats. Some of the observed European Y-STR haplotypes are thought to belong to the B182 branch (see Table 4). Because they are approved as B182 the Lebanese (Lebn1) and the Turkish (tur-15) haplotypes are presented in Table 4, as well.
We suppose that the second half of the European Y-STR haplotypes in Table 4 belongs to the Eur1 paternal line.
Finally, a donor from Belgorod, Russia, appears to have a Yakut ancestor.
The B182 branch is present in Asian populations (see Table S2); however, there is no clear evidence of close relatives of the Eur1 branch in Asia (see Table S3). The branch appears to include only European samples.
Table 4. Y-STR haplotypes of the European M2019 samples.
We estimated ages of the branches using 17 Y-STR loci (Yfiler). Nine B182 and ten Eur1 haplotypes were taken from Table 4. 136 haplotypes of the Yakut branch were chosen from scientific papers — Theves et al. (2010,), Xu et al. (2014,), Karmin et al. (2015,), Rootsi et al. (2007,), plus the Yakut sample haplotype. Results are presented in Table 5.
Table 5. Interclade TMRCA of B182, Eur1 and Yakut lineages estimated from Y-STR data.
The age estimates obtained by SNPs and STRs are within confidence intervals.
What suggestions can we make?
About three thousand years ago the Most Recent Common Ancestor of Eur1 and Eur2 might have been a pastoralist herder on Central Asian steppes. That man was also the ancestor of the modern Yakuts. His descendants could have reached Europe with the Huns, the Avars, the Bulgars, the Cumans, the Mongolians, the Turks etc.
It should be noted that Eur1 branch includes ethnic Austrians, Germans, Frenchmen. The paternal origin of the Eur1 donor we used in this study is German.
Peter Puspoki Nagy wrote in his article «The power of facts» (Nagy, 1985): «After the final dissolution of the Avar Kaganate in AD. 805, Charlemagne, at the request of the already Christian Avar Kagan, Teodor, established the Avar Province in the Frankish Empire, in the newly occupied territory between Carnuntum (Deutsch-Altenburg) and Sabaria (Szombathely). Many contemporary credible sources prove its establishment and continued existence:
805. «Capcanus princeps Hunnorum Aquis ad imperatorem venit et, ut postulavit, inter Sabariam et Carnuntum habitandi locum accepit, … erat anim christianus nomine Theodorus» «The Kagan, the prince of the Avars, went to the Emperor in Aachen and, as he requested, he received the territory between Sabaria and Carnuntum, … he was Christian and his name was Teodor.» (Annales Fuldenses ad A. 805.: Annal. Regni Francorum 795. 805 Annal. Maximiniani etc. Cf. MMFH. I. 87, 40, 92, 63)».
The Avar descendants became Christians and lost both their origin and their language. The present-day Petronell-Carnuntum is located in Lower Austria, near the Wien. So some Europeans of the Austrian and German origin could have the Avar origin.
An information from Constantine Porphyrogenitus, «De Administrando Imperii» (Nagy, 1985): «At that time, the Croatians lived beyond Bajivár, where the White Croatians are now living. But one clan broke away from them, five brothers, Kluk, Lobel, Kosjenc, Muhlo and Hrvat and two sisters, Tuga and Buga and, with all their people, they marched to Dalmatia. And there they found the Avars, those who were the owners of the land. After they had been fighting for several years against each other, the Croatians gained the upper hand and killed out a part of the Avars and subjugated the rest. From that time on, that land came under the rule of the Croatians. But there are in Croatia some people who can be recognized as Avars».
In this sense, some of the inhabitants of the Balkan Peninsula could have the Avar origin, too.
A lot of the Avar burial sites are known in Austria, Hungary, Croatia etc. (see, for instance, «The Other Europe in the Middle Ages: Avars, Bulgars, Khazars and Cumans». Edited by Florin Curta with the assistance of Roman Kovalev. Brill Academic Pub. Leiden, Boston, 2008).
Taking into account not only the scientific evidence but also the evidence of these medieval documents and artifacts, we believe that the ancestors of Eur1 and Eur2 may well have been of ancient Avar paternal origin.
Two European men (participants of the FTDNA projects) have the same paternal origin as the Yakuts from the North-Eastern Siberia. We estimated the Time to the Most Recent Common Ancestor of the two Europeans and the Yakuts as 3100 years before the present, with a 95% CI: 2300—3900 years.
We proposed the paternal origin of any Europeans with a derived allele at M2019 to be ancient Avar.
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Table S1. Y-SNPs of the European samples versus the Yakut.