Bulgarians vs the other European populations: a mitochondrial DNA perspective (original) (raw)
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Y-Chromosome Diversity in Modern Bulgarians: New Clues about Their Ancestry
PLoS ONE, 2013
To better define the structure and origin of the Bulgarian paternal gene pool, we have examined the Y-chromosome variation in 808 Bulgarian males. The analysis was performed by high-resolution genotyping of biallelic markers and by analyzing the STR variation within the most informative haplogroups. We found that the Y-chromosome gene pool in modern Bulgarians is primarily represented by Western Eurasian haplogroups with , 40% belonging to haplogroups E-V13 and I-M423, and 20% to R-M17. Haplogroups common in the Middle East (J and G) and in South Western Asia (R-L23*) occur at frequencies of 19% and 5%, respectively. Haplogroups C, N and Q, distinctive for Altaic and Central Asian Turkic-speaking populations, occur at the negligible frequency of only 1.5%. Principal Component analyses group Bulgarians with European populations, apart from Central Asian Turkic-speaking groups and South Western Asia populations. Within the country, the genetic variation is structured in Western, Central and Eastern Bulgaria indicating that the Balkan Mountains have been permeable to human movements. The lineage analysis provided the following interesting results: (i) R-L23* is present in Eastern Bulgaria since the post glacial period; (ii) haplogroup E-V13 has a Mesolithic age in Bulgaria from where it expanded after the arrival of farming; (iii) haplogroup J-M241 probably reflects the Neolithic westward expansion of farmers from the earliest sites along the Black Sea. On the whole, in light of the most recent historical studies, which indicate a substantial proto-Bulgarian input to the contemporary Bulgarian people, our data suggest that a common paternal ancestry between the proto-Bulgarians and the Altaic and Central Asian Turkic-speaking populations either did not exist or was negligible.
Advances in Anthropology, 2015
The modern Bulgarian mitochondrial DNA (mtDNA) and Y-chromosome gene pools predominantly consist of Western Eurasian haplogroups. In contrast, the Eastern Eurasian lineages are found at very low frequencies in Bulgarians, being represented only by mtDNA haplogroups C (0.2%), D (0.4%) and Z (0.1%) (Karachanak et al., 2012) and Y-chromosome haplogroups C, N and Q (each 0.5%) (Karachanak et al., 2013). A similar pattern is observed in ancient mtDNA samples of proto-Bulgarian human remains, which belong exclusively to Western Eurasian mtDNA haplogroups (Nesheva et al., 2015). In order to investigate Bulgarian ancestry from the perspective of Eastern Eurasian haplogroups, we have analyzed the distribution of Y-chromosome haplogroups C, N and Q and mtDNA haplogroups C, D and Z across Eurasia. The survey was performed using literature data for more than 15,000 individuals from different Eurasian (sub-) populations for each of these haplogroups. The collected data were used to construct Eurasian frequency maps of the considered haplogroups and to test the significance of their incidence between Bulgarians and Europeans, European neighboring populations of Bulgaria and populations, which according to some historical conceptions could have common ancestry with proto-Bulgarians, namely: Altaian, Caucasus, Siberian and Central Asian populations. The spatial distribution of mtDNA haplogroups C, D and Z and Y-chromosome haplogroups C, N and Q contrasts their high frequency among Altaic populations and their occasional appearance in Bulgarians. Furthermore, the comparison of the occurrence of these haplogroups shows no link between Bulgarians and Altaic and Caucasus populations. Based on the substantial genetic input of proto-Bulgarians to the modern Bulgarian gene
A genetic analysis of the people currently inhabiting the country of Bulgaria
Being located on the Balkan peninsula, Bulgaria has been at the crossroads of peoples migrating from the Middle East to Europe and from the steppes of Western Eurasia to the Aegean islands, as well as the expeditions of European Crusaders to Jerusalem. Recent reports on the genetic background of modern Bulgarians have revealed new clues and insights into their ancestry. Both mitochondrial DNA (mtDNA) and Y chromosomes have been analyzed by cutting-edge technologies, such as high-resolution genotyping of biallelic markers, RFLP, and DNA sequencing, as well as statistical analyses (principal component analysis or PCA, and GLOBETROTTER method) of significant numbers of female and male individuals. Autosomal DNA (SNPs) was also analyzed using more than 270,000 markers for SNPs. The results from the mtDNA analyses has clearly shown that the female population can be placed in an intermediate position between Eastern Europeans and Mediterranean populations indicating a strong presence of the DNA of the indigenous people that initially populated the Balkans, most likely the ancient Thracians. Results from the Y chromosome gene pool analyses, that also included STR variation analysis within the most informative haplogroups, revealed that modern male Bulgarians have Western Eurasian haplogroups: about 40% belonged to E-V13 and I-M423 haplogroups, and 20% to R-M17. Haplogroups common in the Middle East (J and G) and in South Western Asia (R-L23*) were observed in only 19% and 5%, respectively. The only two late Bronze and Iron Age Thracian individuals (bones) analyzed thus far, belonged to N1a and G2a haplogroups typical of the early European farmers. Statistical analyses place the Bulgarians with the European population, separate from Central Asian Turkic-speaking and South Western Asian populations. Despite the presence of the Ottomans in Bulgaria for five centuries, DNA from Central Asian Turkish-speaking people was detected in only about 1.5% of the individuals. Also, the presence of Slavs on the territory of Bulgaria have only made a small contribution to the DNA of modern Bulgarians. When all published Bulgarian genotypes from the FamilyTreeDNA (National Geographic Human Migration project) were included in such analyses, the results did not change significantly. Statistical (PCA) analysis confirmed that the Bulgarians segregated mostly with the Greek, and some Southern Slavic populations but remained separate from the Slavic populations of North-Central and NorthEastern Europe. In a broader context, the Bulgarian haplogroup profile is located among European populations; it is separate from the Altaic and Central Asian Turkic-speaking peoples.
Ancient DNA analysis on the ancestry of European populations conducted in the last decade came to the puzzling conclusion that while all contemporary European populations can be best represented as an admixture of 3 ancestral populations –Early European Neolithic farmers (ENF), Western Hunter-Gatherers (WHG) and Ancestral North Eurasians (ANE), contemporary Bulgarians and few other SEE populations can also be represented as an admixture of two groups only – Early European Neolithic farmers and contemporary Caucasian people equally well.If modeled as an admixture of two groups only, the ANE component presented in contemporary Bulgarians would have arrived on the Balkans with hypothetical ANE (Ancestral North Eurasians)-rich Caucasian population. In this paper, we test the hypothesis that increased Caucasian component in contemporary SE Europeans, has been introduced on the Balkans by migrating Iron Age steppe dwellers from Pontic-Caspian steppe. We analyze available DNA datasets from...
Genetic evidence suggests relationship between contemporary Bulgarian population and Iron Age steppe dwellers from Pontic-Caspian steppe, 2019
Ancient DNA analysis on the ancestry of European populations conducted in the last decade came to the puzzling conclusion that while all contemporary European populations can be best represented as an admixture of 3 ancestral populations-Early European Neolithic farmers (ENF), Western Hunter-Gatherers (WHG) and Ancestral North Eurasians (ANE), contemporary Bulgarians and few other SEE populations can also be represented as an admixture of two groups only-Early European Neolithic farmers and contemporary Caucasian people equally well. If modeled as an admixture of two groups only, the ANE component presented in contemporary Bulgarians would have arrived on the Balkans with hypothetical ANE (Ancestral North Eurasians)-rich Caucasian population. In this paper, we test the hypothesis that increased Caucasian component in contemporary SE Europeans, has been introduced on the Balkans by migrating Iron Age steppe dwellers from Pontic-Caspian steppe. We analyze available DNA datasets from both ancient and contemporary samples and identify a Caucasian signal, carried to Balkan populations by the nomadic dwellers of IA Saltovo-Mayaki Culture, located on the northern slope of Caucasus Mountains and adjacent steppe regions. We also identify two additional sources of Caucasian admixture in SEE populations, which are not specific to Bulgarian population only. Based on the results from our population genetic analysis we. CC-BY-NC 4.0 International license It is made available under a (which was not peer-reviewed) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity.
Mitochondrial DNA Suggests a Western Eurasian Origin for Ancient (Proto-) Bulgarians
Human Biology
Ancient (proto-) Bulgarians have long been thought to as a Turkic population. However, evidence found in the past three decades show that this is not the case. Until now, this evidence does not include ancient mitochondrial DNA (mtDNA) analysis. In order to fill this void, we have collected human remains from the VIII-X century AD located in three necropolises in Bulgaria: Nojarevo (Silistra region) and Monastery of Mostich (Shumen region), both in Northeast Bulgaria and Tuhovishte (Satovcha region) in Southwest Bulgaria. The phylogenetic analysis of 13 ancient DNA samples (extracted from teeth) identified 12 independent haplotypes, which we
Archaeological and genetic data suggest Ciscaucasian origin for the Proto-Bulgarians
Papers of BAS, 2019
The present study aims to properly introduce the newly acquired genetic data from various surveys into the debate for the origin of the Proto-Bulgarians. A part of the research focuses on the archaeological definition of Proto-Bulgarians with all their key features, identifying the most likely key area of Proto-Bulgarian ethnogenesis-the Kuban River area. The archaeological features that prove solid contacts with early Alans are discussed, as the emerging of biritualism or even multiritualism in the same zone. Аvailable genetic data are processed with the Past software to produce principle component analysis (PCA) for the modern Bulgarians, comparing them with various ancient populations. The results prove close ties with Saltovo-Mayaki peoples and particularly with Caucasian Alans. Based on this observation and particularly the placing of various Alan samples firmly within the phylogenetic tree of modern Bulgarians, the enthno-genesis zone of the Proto-Bulgarians is reviewed again and its early start-1st-2nd c.-is confirmed. The general conclusion is that Proto-Bulgarians were a mixture of Late Sarmatians and older Caucasus populations, closely related to the Alans and preserving their genetic inheritance, even after arriving on the Balkans and mixing with Slav peoples and the remnants of the local Late Antiquity peoples. The present-day country of Bulgaria, often designated as "Danube Bul-garia" in various archaeological and historical works, was established during the centuries following the Hun period in Europe and undoubtedly represents one of the most enduring results of the Migration period in Europe (Völkerwander-ung in German). The identity and origin of the people who stood behind this enduring act of state-creation still remain unclear and often hotly debated. The historical, archaeological, onomastic and linguistic research that started in the 18th c. allowed scientists both domestic and foreign to reach certain conclusions grouped in around several major theories. The most comprehensive summary on the matter in the late 20th c. was provided by Veselin Beshev-liev. He summarized that there were in the past four major theories about the
International Scientific Conference "History and Archaeology of Southeastern Europe during the Middle Ages – 80 Years since the Birth of Prof. D.Sc. Racho Rashev (1943-2008)", 2023
The Eurasian steppe, a 6,000-kilometer expanse, was a migration barrier until the Yamna people domesticated horses in the late Neolithic period. This enabled migrations and admixture between previously isolated communities. All ethno-cultural groups emerging in the Eurasian steppe inherited significant genomic components from the original Indo-European migrants, often admixed to a varying degree with Uralic, Mongolian and Middle Asian components. We investigate the genetic history of the Sarmatians, an Iranian-speaking nomadic people who dominated the Eurasian steppe in late antiquity. Using ancient DNA from 195 individuals, we trace the population dynamics and admixture patterns of the Sarmatians and their relations to other steppe and Balkan groups, such as the Scythians, Huns, and early Bulgarians, during the Migration Period. The results show that Sarmatians originated from the Southern Urals and expanded westward, displacing the Scythians and forming two distinct groups in the Hungarian plain. The Sarmatians also received gene flow from Baltic and Slavic sources, as well as from the Caucasus and Central Asia. We compare the genetic profiles of the two Sarmatian groups in the Hungarian plain: the Tisza Sarmatians and the Danubian Sarmatians. We find that the Tisza Sarmatians had a distinct Illyrian-Italic signal and a larger proto-Slavic component, while the Danubian Sarmatians had bigger Siberian and Pontic components. We also find that the Tisza Sarmatians had a weaker Caspian signal than Danubian Sarmatians. We identify a specific genetic signal that is present in early and modern Bulgarians, but not in most other Slavic and Balkan populations. We also detect a weak but distinct signal from the Kangju, a Central Asian group that might represent a late European migration into Asia. We discover that two genomes from the North Caucasus steppe from the 8th to 10th centuries, which had both Alan and Kangju signals, showed a genetic flow to early and contemporary Bulgarians, indicating a historical connection. We discuss the possible causes and consequences of the demographic shifts that led to the emergence of the Sarmatians and Huns in the Hungarian plain and the decline of the Scythian population in the Black Sea region. We suggest that these shifts were likely precipitated by military and political pressures from the Huns and Imperial China, exercised in Central Asia, leading to a domino effect of migrations by East Iranian nomadic groups.
Annals of Human Genetics, 2005
The Balkan Peninsula is a complex cultural mosaic comprising populations speaking languages from several branches of the Indo-European family and Altaic, as well as culturally-defined minorities such as the Aromuns who speak a Romance language. The current cultural and linguistic landscape is a palimpsest in which different peoples have contributed their cultures in a historical succession. We have sought to find any evidence of genetic stratification related to those cultural layers by typing both mtDNA and Y chromosomes, in Albanians, Romanians, Macedonians, Greeks, and five Aromun populations. We have paid special attention to the Aromuns, and sought to test genetically various hypotheses on their origins.
Y-Chromosomal Haplogroups in Bulgarians
2009
In order to reconstruct Bulgarian paternal genetic history, we analysed the Y chromosome diversity across the country. This initial effort was performed through genotyping of 13 biallelic markers in samples of 127 Bulgarian males. These markers define the main Y chromosome haplogroups and some of their subclades. We determined five predominant haplogroups, which probably reflect three different steps in the colonization of the Balkan Peninsula. The obtained pattern of the Bulgarian Y chromosome diversity was compared to that of populations previously analysed at the same phylogenetic resolution. Based on this comparison and on historical data, we estimated definitely greater Indo-European (IE) than Central Asian (Altaic, AL) contribution to the modern Bulgarian gene pool.