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Post by Admin on May 4, 2022 18:52:57 GMT
Volga-Kama-Ural Mountains: “Uralic component” In the case of five Hungarian Conqueror samples (Karos II graves 14 and 29, Bodrogszerdahely grave 3, Nagykörü grave 6, and Tiszakécske grave 1), the analysis yielded genetic hits partly from Siberia (Mansi and Khanty peoples) and partly from the area between the Volga-Kama Rivers and the Ural Mountains.
All five samples belong to the N3a4-Z1936 subgroup, from which the Balto-Finnic branch (N3a4-B535/Z1934Z1925) split 4900 years ago, which is roughly in line with the time of the disunion of Finnic and Ugric languages estimated by linguistics (around 4000 yBP with dialects starting to diverge earlier; Hajdú and Domokos 1980). The N3a4-Z1936 subgroup branched out even further following the separation from the Finnic side: the modern representatives of the branch not carrying Z1934 and L1034 are known from Tatarstan and Hungary, and it has been found among the skeletal remains of Karos II graves 14 and 29, and Bodrogszerdahely grave 3 as well. The B539/Y13850 branch is found among the Volga Tatars in present-day Tatarstan, and we also found it in the genome of a modern Hungarian from Bodrogköz and in a Hungarian Conqueror warrior from Nagykörü grave 6. However, as we could not test each sample for Y13850, more Hungarian Conquerors may bear it as well. Based on the results of Post et al. 2019, most B539(xB540) samples should belong to the B545 clade (“brother” of B540). The L1034/B540 branch is found in modern Bashkortostan, Tatarstan, the Ob-Ugric peoples of Siberia, Székelys, Hungarians living in Hungary, and also in the Hungarian Conqueror from Tiszakécske grave 1.
The genetic results support this group’s Ugric linguistic classification; there were matches with modern peoples living in Bashkortostan and Tatarstan (Magna Hungaria), as well as with Hungarians’ closest linguistic relatives, the Mansi and the Khanty in Siberia.
Northern Pontus: “Pontic component” Based on genetic results, a heterogeneous group from the Northern Caucasus (northeastern shore of the Black Sea and the lower Don), in so-called Levedia, joined two other groups (Altaic and Uralic components) originating from east. Nine Hungarian Conqueror samples show four haplogroups characteristic of the Northern Pontic/Ciscaucasian region (G2a, I2a, J1, and R1b).
Among the samples belonging to the G2a haplogroup, two closely related individuals from Rétközberencs match completely. They belong to the G2a2-U1, L1266 subgroups, which share the paternal lineages of the peoples of the Northwestern Caucasus, such as the Abkahzians, Abazins, Adyghe (Circassians), Circassians, and Kabardians. Although the other two analyzed Hungarian Conqueror males (from Karos I grave 3 and Rakamaz grave 7) were not related, they both belonged to the G2a1-L293 subgroup, which is characteristic of the Ossetians from the Northern Caucasus. The Caucasian origins of both G2a subgroups is certain; however, this region was the most affected by migration during the time of the Khazar polity. In this period, a native Caucasian group might join the Hungarian Conquerors. Research about the Kabar tribe that left the Khazars and accompanied the ancient Hungarians would likely begin with this Caucasian group.
Three I2a males were present in the sample, with haplotypes I2a1-L621, CTS10228. The males from Karos II grave 52 and Karos III grave 11 were buried with artifacts suggesting they were leaders among the Hungarian Conquerors (Révész 1996).
The SNP-based age of the Eastern European CTS10228 branch is 2200 ± 300 years old. The carriers of the most ancient subgroup live in Southeast Poland, and it is likely that the rapid demographic expansion which brought the marker to other regions in Europe began there. The largest demographic explosion occurred in the Balkans, where the subgroup is dominant in 50.5% of Croatians, 30.1% of Serbs, 31.4% of Montenegrins, and in about 20% of Albanians and Greeks. As a result, this subgroup is often called Dinaric. It is interesting that while it is dominant among modern Balkan peoples, this subgroup has not been present yet during the Roman period, as it is almost absent in Italy as well (see Online Resource 5; ESM_5).
The Hungarian Conqueror tribe whose leaders were buried at Karos may be connected to an early wave of this dynamic population expansion. Their genetic haplogroup, I2a-CTS10228, is widespread among Slavs, but it is only present in 7% of Caucasian peoples, namely among the Karachay.
Although we were unable to analyze the Karos remains any deeper, we did test the closest modern Hungarian Kunszentmárton samples for further mutations. It belonged to the A815 subgroup, which is also present in the Northern Caucasian Karachays, and possibly due to historical Hungarian impact, in the Moravians in the Czech Republic, the Slovaks, and the Ukrainians.
As such, it appears that the I2a-CTS10228 haplogroup in the paternal lineage of the Karos leaders arises from a specific branch in the Northern Caucasus dating to about 400–500 CE. Its modern descendents live among the Karachay, Hungarians, and various other surrounding nationalities.
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Post by Admin on May 4, 2022 19:22:17 GMT
Comparison of paternal and maternal lineages The maternal lineages were simultaneously analyzed by another team (Neparáczki et al. 2018). Despite the large difference in the number of examined cases (19 paternal versus 102 maternal lineages), there was some overlap between the cases of the two analyses. Out of the 19 paternal samples, only 8 samples were included in the mtDNA analysis (8/19, 42.1% versus 8/102, 7.8%); nevertheless, the results show agreement. The maternal lineages originate from approximately the same three areas as the paternal lineages: Central-Inner Asia, Middle-Volga Region and the Pontic-Caspian steppe. Several female samples were also included in the mtDNA analysis; thus, based on these two analyses, it can be assumed that along with man, a significant number of women arrived in the Carpathian Basin as well.
It should be noted that, while the genetic analogues of the paternal lineages originate from three well-defined areas, the genetic analogues of the maternal lineages are more diverse and come from a much larger area. The homeland of the three components of the Hungarian tribes is more clearly defined from the paternal than the maternal lineages, which supports the initial hypothesis that the patrilocal exogamy of nomadic peoples makes paternal lineages more suitable to genetic origins research. Testing autosomal aDNA components in the future would be useful to see the whole picture of genetic heritage for the Hungarian Conquerors.
It is also likely that migration to the Carpathian Basin from even the farthest areas did not take hundreds of years, contrary to the long-held opinion in the Hungarian scientific world.
Question of linguistic relationships The most controversial topic in the research of ancient Hungarian history is the language of the Hungarian Conqueror tribes. In addition to the Uralic (Finno-Ugric) language theory, there exist others that we do not cover in our study, but the results of our genetic analyses may shed light on linguistic relations. The N haplogroup is dominant in every branch of the Uralic language family (Zerjal et al. 1997), except in the Hungarians (Semino et al. 2000; Csányi et al. 2008; Pamjav et al. 2017). The first genetic research on Hungarian Conquest period remains (Csányi et al. 2008) showed that two out of four classic Hungarian Conqueror samples belonged to the N-Tat haplogroup. Our present study suggests that the Y chromosomes that are very characteristic to the most of the Uralic-speaking populations—except modern Hungarians—were frequent among the Hungarian Conquerors who might have been the ones who brought the Uralic language to the Carpathian Basin, where it is spoken also today.
Our analyses allowed us to examine the N-Tat samples in greater genetic detail. For example, five samples had the genetic characteristics of the Ugric N3a4 branch and geographically localized to the Ural Mountains, while two samples belonged to the N3a2 branch, which diverged from the Ugrics’ ancestors 6800 years ago (Ilumäe et al. 2016), and is now found among the Turkic-speaking peoples, in the area surrounding Lake Baikal, especially among the Yakuts, who originated from there (Crubézy et al. 2010; Ilumäe et al. 2016). Byzantine sources (Pauler and Szilágyi 1990) mention the bilingualism in the Hungarian tribes (then called Turks). Our current results do not yet allow us to take a stand on this issue, but they inspire us to continue our research in this direction in the future.
Conclusion Based on the 19 Hungarian Conqueror elite warriors we examined, the paternal lineage of the Hungarian Conquerors is genetically quite heterogeneous. Of the three components, one was from present-day Bashkortostan in the Ural Mountains, while a second came from Inner Asia, most likely surviving elements from the Xiongnu Empire. These groups may have been joined by a third one in the Caucasus that was composed of several different ancestries, such as Northern Caucasian Turk, Alan, and Eastern European (perhaps early Slavs).
The existence of the three relevant components is not affected by the relatively small sample size, but if more samples could be included in future analyses, then new elements and changes in the ratios would be likely to arise.
Despite these new results, there still remain several questions concerning the demography of the Hungarian Conquerors that may be solved with autosomal, mtDNA, and Y-chromosomal studies on larger sample sets (both commoner and elite graves) from the Hungarian Conquest period, in conjunction with genetic analyses on skeletal remains from before and after the Hungarian Conquest period.
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Post by Admin on May 5, 2022 20:52:54 GMT
Interdisciplinary analyses of Bronze Age communities from Western Hungary reveal complex population histories doi: doi.org/10.1101/2022.02.03.478968Abstract In this study we report 20 ancient shotgun genomes from present-day Western Hungary (3530 – 1620 cal BCE), mainly from previously understudied Baden, Somogyvár-Vinkovci, Kisapostag, and Encrusted Pottery archaeological cultures. Besides analysing archaeological, anthropological and genetic data, 14C and strontium isotope measurements complemented reconstructing the dynamics of the communities discovered at the site Balatonkeresztúr. Our results indicate the appearance of an outstandingly high Mesolithic hunter-gatherer ancestry in the largest proportion (up to ~46%) among Kisapostag associated individuals, despite this component being thought to be highly diluted by the Early Bronze Age. We show that hunter-gatherer ancestry was likely derived from a previously unrecognised source in Eastern Europe that contributed mostly to prehistoric populations in Central Europe and the Baltic region. We revealed a patrilocal residence system and local female exogamy for this Kisapostag population that was also the genetic basis of the succeeding community of the Encrusted Pottery culture, represented by a mass grave that likely resulted from an epidemic. We also created a bioinformatic pipeline dedicated for archaeogenetic data processing. By developing and applying analytical methods for analysing genetic variants we found carriers of aneuploidy and inheritable genetic diseases. Furthermore, based on genetic and anthropological data, we present here the first female facial reconstruction from the Bronze Age Carpathian Basin. Significance Here we present a genomic time transect study from the Carpathian Basin (3530 – 1620 cal BCE), that sheds light on local and interregional population processes. We not only discovered long-distance mobility to provide detailed analysis of yet understudied Bronze Age communities, but we also recovered a previously hidden remnant hunter-gatherer genetic ancestry and its contribution to various populations in Eastern and Central Europe. We integrated 14C and strontium isotope measurements to the interdisciplinary interpretation of a site with 19 individuals analysed, where patrilocal social organisation and several health-related genetic traits were detected. Furthermore, we developed new methods and method standards for computational analyses of archaic DNA, implemented to our newly developed and freely available bioinformatic pipeline. Table 1 Summary of the investigated samples. MtDNA and ChrY denote mitochondrial haplogroup and Y chromosome haplogroup. In column “Kinship” 1st and 2nd mean the degree relations. For the feature, grave IDs and details on newly reported radiocarbon dates see the Supplementary Table S1. Introduction A number of studies addressed population historical questions in Prehistoric Europe by recovering major events connected to the pre-Neolithic hunter-gatherers (HG)1–3, their assimilation to early European farmers during the Neolithic era2,4–6, and the appearance, expansion and admixture of steppe ancestry during the Eneolithic / Late Copper Age to the dawn of Early Bronze Age4,7,8. While some of these studies are essential for understanding the foundation of the European gene pool, studies are sparse in the literature that uncover regional interactions or social stratification via kinship9–11. Additionally, except for a few well-known markers in most archaic studies – e.g. basic pigmentation markers or lactose intolerance analysed large-scale in Mathieson et al. 201512 – no deeper analyses have been made e.g. on clinical variants. Our study aimed to make a transect analysis on a single site concerning understudied archaeological assemblies, as well as introducing the PAPline (Performing Archaeogenetic Pipeline, Supplementary Information section 6), a new bioinformatic pipeline for archaic DNA analysis. We analysed the archaeological finds from Balatonkeresztúr-Réti-dűlő site in Western Hungary, where - among others - Bronze Age assemblies were found during roadwork in 2003. Three Bronze Age archaeological horizons can be distinguished, from the Somogyvár-Vinkovci culture (~2500-2200 BCE), Kisapostag culture (~2200–1900 BCE) and to the Encrusted pottery culture (~1900–1450 BCE) that were named into Bk-I, II and III phases in this study, respectively (Table 1, Supplementary Information section 1, and Fig. S.1.2.1). In order to provide additional proxy to population ancestry of the region one further Late Copper Age individual from a multiple grave of the Baden culture (3600-2800 BCE) excavated at site Balatonlelle-Rádpuszta, ~30 km away from Balatonkeresztúr was added to our dataset.
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Post by Admin on May 6, 2022 18:11:02 GMT
Results We shotgun sequenced genomes of 20 individuals with 0.008 to 0.17x coverage. We also sequenced reads of a capture set consisting 3000 nuclear SNPs (single nucleotide polymorphisms), and whole mitochondrial DNAs (mtDNAs) of all individuals. The shotgun and the capture sequenced samples ultimately resulted in an average ~104k SNPs/individuals using the 1240k SNP panel for genotype calling12, see Materials and Methods and Supplementary Tables S4 and S7. We utilised STR analysis of the Y chromosome to recover paternal kinship patterns. Furthermore, we reconstructed the face of individual S13 (Bk-II), where all known biological and archaeological details were considered, see Supplementary Information section 4. The bioarchaeological analyses were completed with radiocarbon and strontium isotope analyses, the latter can be used to trace individual mobility. Archaeological and anthropological evaluation of samples Bk-I contained the remains of a single male individual having a very long (ultradolichocran) skull type which differentiates it from most individuals found at Bk-II and Bk-III that have a very short (brachycranic) skull type13 (Table 1). In Bk-II and Bk-III male dominance (~78%) suggest distinctive funeral treatment for males and females. Bk-II is represented by 3 juveniles (16-19 years olds) and 7 adults (30+ years olds) distributed into two grave groups of A and B (Table 1, Supplementary Information Fig. S.1.2.1), and one child grave (individual S10) far from the others. Most of the burials contained no remaining grave goods except for small copper jewellery in S10 and S13. Radiocarbon dates place these inhumations to ca. 2200-1770 cal BCE, however, with Bayesian analysis using the OxCal software the timespan of the Bk-II burials can be reduced to ca. 2120-1900 cal BCE (95.4% CI), with two graves (individuals S10 and S11) possibly being slightly earlier (Supplementary Information section 1.8). The absence of children from the site is a common phenomenon that can be traced back to different preservation dynamics or burial practises to adults14, while the reason for the absence of young adults (~20-30 year olds) is unknown. Bk-III is represented by a single mass grave of 8 skeletal remains of all ages that turned out to be an unusual find in a period when the cremation practises and single inhumations were common, from ca. 1870-1620 cal BCE (95.4% CI). For details, see Supplementary Information section 1. Uniparental genetics and kinship analyses Both Bk-II and Bk-III show phylogeographic signals for their maternal and paternal lineages. Accordingly, Bk-II is mostly defined by mtDNA connections to the region of present-day Poland and its surroundings, whereas Bk-III has more diverse maternal composition, see Supplementary Information section 2.1. Male lineages in both Bk-II and Bk-III are mostly defined by Y chromosome haplogroup I2a-L1229 (Table 1), for which network analysis (Supplementary Information section 2.2) narrowed down regional affinities to the North European plain and shows continuity between these two horizons. Uniparental diversity makeup points to a patriarchal social structure similar to previously reported Bronze Age findings9,11,15. Results are highly similar to previous observations on Encrusted Pottery culture at the Jagodnjak site (Croatia)10. The kinship network of Bk-II follows the distribution of grave groups (Fig. 1) which were likely established along family relationships and chronology. Individuals buried in the Bk-III mass grave only show a few blood relations, like a half-brother and father-son and a dizygotic twin, the latter is the most archaic detection to date to our knowledge. However, Bk-III as an extended family group can not be excluded. For further details, see Supplementary Information section 2 and Supplementary Tables S1-S3. Fig. 1 Kinship network at Balatonkeresztúr site based on the biological age of the individuals, and the results of the uniparental and and the READ/MPMR analyses. Blue colour represents the Bk-II grave group “A” that consists of descendant individuals, while the green coloured individuals – found in Bk-II grave group “B” – are mostly the ancestors, which suggests a kinship or chronological based geographical distribution of graves. In the mass grave Bk-III (orange, east to Bk-II graves, for full site map see Supplementary Information Fig. S.1.2.1) only a partial kinship network can be observed. Specimens buried in Bk-II S10 (purple) and S13 (green), and Bk-III S14, S16 and S18 (orange) do not have 1st and 2nd degree relatives in the uncovered graves.
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Post by Admin on May 6, 2022 19:13:37 GMT
Genetic disorders and pigmentation Investigating genetic disorders in archaic datasets is potentially valuable for history of health and medicine, and also highlights the overall genetic health of past populations. Inherited genetic disorders, if accompanied with severe phenotypic anomalies, could also explain unusual burial practises, as it was described in cases of dwarfism16. For detailed results of this topic, see Supplementary Information section 3. Aneuploidies The abnormal number of chromosomes result in a few well known diseases which we tested thoroughly. We found one individual, S10, the only child burial in Bk-II, with XYY gonosomal genotype, described as Jacob’s syndrome. Although this syndrome remains in most cases silent as it is relatively frequent (~0.1%) in today’s populations, it occasionally comes with a wide scale of symptoms17, which may be linked to its separate burial, but due to poor bone preservation for S10 no further assessments could be made. Mitochondrial DNA diseases We examined the clinical significances of the polymorphisms that can be found in the mtDNA by using the mitopathotool software on the AmtDB database18, and found that individual S1 (40+ years old) from Bk-II had one of the defining mutations (T14484C) of Leber’s hereditary optic neuropathy (LHON) causing vision loss in ~10% of females and in ~50% of males between 20-40 years of age, rarely accompanying with other neuropathies19. Pigmentation Pigmentation patterns highly differ between horizons, as Bk-I mostly possess variants for light pigmentation, blue eyes and blonde hair, while Bk-II is more similar to populations of Neolithic Europe (Fig. 2), although some variants for lighter pigmentation exist within this group too. Members of Bk-III on the other hand show a wide range from dark to light tones and even the presence of variants for red hair (Supplementary Table S5, Supplementary Information section 3.2.1). Fig. 2 Reconstruction of individual S13. Her mouth was partly open due to maxillary prognathia and her burial position differs from the others by her unusual arm position. She likely had higher social status for the rare copper beads she had around her head. Her genomic makeup and pigmentation pattern blends well to other Bk-II individuals, and while she did not have any blood relatives at the site up to second degree, according to strontium isotope data she lived in the region, suggesting her origin from a nearby community of the same population. For more information, see Supplementary Information sections 1 and 4. Nuclear variants with clinical significance We also examined the nuclear genomes to find regions with clinical significance. Since a complete panel for determining disease susceptibility only exists in commercial DNA kits, and detailed description for the 1240k SNP set is not available, we created our own SNP calling panel (included in PAPline) focusing on various conditions including amyotrophic lateral sclerosis, Alzheimer disease, autism, Crohn’s disease, diabetes, lactose intolerance, tumor markers, mental disorders, Parkinson disease, schizophrenia and ulcerative colitis. For this study we used 3,874 clinically significant SNPs, which were marked as “pathogenic” or “likely pathogenic” in the ClinVar database20, by ignoring deletion, duplication and copy number variants, as well as SNPs with questionable (“reported”, “conflicting reports”, etc.) contribution to diseases. From this set we found ~2,200 SNPs which covered at least one individual, out of these 27 positions showed clinically relevant substitutions. However, test runs on database data resulted in numerous positive hits for pathogenic variants most likely related to DNA damage, which highlights the unreliability of low coverage SNP data for variant identification (Supplementary Information section 3.2.2). To overcome this issue, we considered positions with more than 0.99 genotype likelihood (GL) values calculated using ANGSD v0.93121 (Supplementary Table S6) or when skeletal features supported results. A variant for Lig4 syndrome (rs10489442122, GL=0.999) in individual S15 was detected, and some of his skeletal features (e.g. congenital hip dysplasia) show possible onset of symptoms (Supplementary Information section 3.2.2.1). In another case the physical manifestation of hereditary spastic paraplegia is likely for S11 and S6, father and son but the genotype likelihood is lower (0.67; see Supplementary Information section 3.2.2.3). Interestingly, a tumor marker on the BRCA2 gene (rs80358920, GL=0.999) in individual S9 is nowadays only prevalent in Asian populations22. For further discussions, see Supplementary Information section 3.2.
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