The Bulgarians are part of the Slavic ethnolinguistic group as a result of migrations of Slavic tribes to the region since the 6th century AD and the subsequent linguistic assimilation of other populations.
150-485: Hellenthal et al., 2014 estimated from data of 94 modern populations a couple of analyses on Bulgarians inferred from an admixture event in 1000-1600 YBP between a Slavic and a Cypriot donor group: to a Polish donor group Bulgarians are of an estimated 59% Polish -like and 41% Cypriot -like admixture; to a Belarusian, Bulgarians are of 46% Belarusian -like and 54% Cypriot -like admixture. Early gene flows between southeastern and eastern Europe make it difficult to obtain
300-714: A pan-Slavic movement has emphasized the common heritage and unity of all the Slavic peoples. The main focus of the movement was in the Balkans, whereas the Russian Empire was opposed to it. The Slavic languages belong to the Balto-Slavic branch of the Indo-European language family . Present-day Slavs are classified into three groups: Though the majority of Slavs are Christians , some groups, such as
450-660: A cluster with the same populations. The Balto-Slavic study itself calculated genetic distance by SNP data of the multiple autosomes and ranked most proximal to Bulgarians the Serbs, followed by Macedonians, Montenegrins, Romanians, Gagauzes, Macedonian Greeks apart from Thessaloniki , the rest of the South Slavs , Hungarians, Slovaks, Czechs, and then by Greeks from Thessaloniki , Central Greece and Peloponnese . The East Slavs and Poles cluster together remaining less proximal to Bulgarians than Germans , among whom Slav admixture
600-524: A common language, is separated and has a largely different genetic past from their northern linguistic relatives . Therefore, for the Bulgarians and most other South Slavs the most plausible explanation would be that their most sizable genetic components were inherited from indigenous Balkan pre-Slavic and pre-Bulgar population. The South Slavs are characterized by featuring NRY hgs I2a and E plus 10% higher Mediterranean k2 autosomal component, while
750-571: A complex objective statistical analysis. From seven Thracian samples aged about 3 millennia from Gabova Mogila and Shekerdja Mogila in Sliven Province , and from Bereketska Mogila in Stara Zagora Province , two were identified as belonging to mtDNA Haplogroup D , presumably associated with East Asia. Haplogroup W5a was found among two individuals and H1an2. H14b1 was also found. Four samples from Iron Age Bulgaria were studied,
900-496: A consistent very low frequency for Eastern Europe as far as Uralic-speaking Hungarians . The national groups of Eastern Europe are characterized by dominant haplogroups R1a or I2 , while those of Western Europe are characterized by dominant haplogroups R1b or I1 , and by other dominant haplogroups in Europe are characterized Albanians, Finns, Greeks, and Turks, and over 50% of the total pool of each European nation other than
1050-545: A correct estimate, although young enough identical by descent segments confirmed such connection and that the East and West Slavs share more identical by descent segments with South Slavs than with Greeks , inter-Slavic populations (a group of Romanians , Gagauz ), but less with Balts , while the South Slavs share similar number with East and West Slavs, but fewer with Greeks. The phenomenon of distinct genetic substrata in
1200-593: A database) to determine maternal lineage. Most often, the comparison is made with the revised Cambridge Reference Sequence . Vilà et al. have published studies tracing the matrilineal descent of domestic dogs from wolves. The concept of the Mitochondrial Eve is based on the same type of analysis, attempting to discover the origin of humanity by tracking the lineage back in time. Entities subject to uniparental inheritance and with little to no recombination may be expected to be subject to Muller's ratchet ,
1350-500: A donor female, and nuclear DNA from the mother and father. In the spindle transfer procedure, the nucleus of an egg is inserted into the cytoplasm of an egg from a donor female which has had its nucleus removed, but still contains the donor female's mtDNA. The composite egg is then fertilized with the male's sperm. The procedure is used when a woman with genetically defective mitochondria wishes to procreate and produce offspring with healthy mitochondria. The first known child to be born as
1500-435: A finding that has been rejected by other scientists. In sexual reproduction , mitochondria are normally inherited exclusively from the mother; the mitochondria in mammalian sperm are usually destroyed by the egg cell after fertilization. Also, mitochondria are present solely in the midpiece, which is used for propelling the sperm cells, and sometimes the midpiece, along with the tail, is lost during fertilization. In 1999 it
1650-545: A healthy human sperm has been reported to contain on average 5 molecules), degradation of sperm mtDNA in the male genital tract and in the fertilized egg; and, at least in a few organisms, failure of sperm mtDNA to enter the egg. Whatever the mechanism, this single parent ( uniparental inheritance ) pattern of mtDNA inheritance is found in most animals, most plants and also in fungi. In a study published in 2018, human babies were reported to inherit mtDNA from both their fathers and their mothers resulting in mtDNA heteroplasmy ,
SECTION 10
#17327811729321800-408: A larger portion of locals compared to migrating Slavs. Other notable exceptions are the territory of present-day Romania and Hungary , where Slavs settled en route to present-day Greece, North Macedonia, Bulgaria and East Thrace but assimilated, and the modern Albanian nation which claims descent from Illyrians and other Balkan tribes. MtDNA Mitochondrial DNA ( mtDNA and mDNA )
1950-547: A movement which came into prominence in the mid-19th century, emphasized the common heritage and unity of all the Slavic peoples. The main focus was in the Balkans where the South Slavs had been ruled for centuries by other empires: the Byzantine Empire, Austria-Hungary , the Ottoman Empire , and Venice . Austro-Hungary envisioned its own political concept of Austro-Slavism , in opposition of Pan-Slavism that
2100-542: A mutation in mtDNA has been used to help diagnose prostate cancer in patients with negative prostate biopsy . mtDNA alterations can be detected in the bio-fluids of patients with cancer. mtDNA is characterized by the high rate of polymorphisms and mutations. Some of which are increasingly recognized as an important cause of human pathology such as oxidative phosphorylation (OXPHOS) disorders, maternally inherited diabetes and deafness (MIDD), Type 2 diabetes mellitus, Neurodegenerative disease , heart failure and cancer. Though
2250-626: A mutational (contrary to the selective one) explanation for the observation that long-lived species have GC-rich mtDNA: long-lived species become GC-rich simply because of their biased process of mutagenesis. An association between mtDNA mutational spectrum and species-specific life-history traits in mammals opens a possibility to link these factors together discovering new life-history-specific mutagens in different groups of organisms. Deletion breakpoints frequently occur within or near regions showing non-canonical (non-B) conformations, namely hairpins, cruciforms and cloverleaf-like elements. Moreover, there
2400-402: A pair of fragmented mandibles including at least one molar . Whether these early humans were in fact Homo sapiens or Neanderthals was disputed until morphological analysis of a tooth and mitochondrial DNA of bone fragments established that remains were those of Homo sapiens . In samples F6-620 and AA7-738 identified mitochondrial haplogroup M , in samples WW7-240 and CC7-335 determined
2550-616: A population movement with uniform genetic features and material culture" ( Ancient East Eurasians ), and sharing deep ancestry with other ancient specimens such as the Ust'-Ishim man and the Tianyuan man , as well as ancestors of modern day Papuans (Australasians). The Bacho Kiro population associated with the IUP material culture in Europe went extinct and replaced by the later Upper Paleolithic migration associated with West Eurasians (represented by
2700-695: A presence of nomadic groups in Europe, from the time of the Huns to that of the Ottomans. A third signal involves admixture between the North European group from one side and the West Asian - Early farmers' group from another side, at approximately the same time as the East Asian admixture, ca. 850 AD. This event may correspond to the expansion of Slavic language speaking people. The analysis documents
2850-525: A result of mitochondrial donation was a boy born to a Jordanian couple in Mexico on 6 April 2016. The concept that mtDNA is particularly susceptible to reactive oxygen species generated by the respiratory chain due to its proximity remains controversial. mtDNA does not accumulate any more oxidative base damage than nuclear DNA. It has been reported that at least some types of oxidative DNA damage are repaired more efficiently in mitochondria than they are in
3000-510: A role in the mitochondrial bottleneck, exploiting cell-to-cell variability to ameliorate the inheritance of damaging mutations. According to Justin St. John and colleagues, "At the blastocyst stage, the onset of mtDNA replication is specific to the cells of the trophectoderm . In contrast, the cells of the inner cell mass restrict mtDNA replication until they receive the signals to differentiate to specific cell types." The two strands of
3150-435: A species and also for identifying and quantifying the phylogeny (evolutionary relationships; see phylogenetics ) among different species. To do this, biologists determine and then compare the mtDNA sequences from different individuals or species. Data from the comparisons is used to construct a network of relationships among the sequences, which provides an estimate of the relationships among the individuals or species from which
SECTION 20
#17327811729323300-630: A stabilisation or reduction in mutant load between generations. The mechanism underlying the bottleneck is debated, with a recent mathematical and experimental metastudy providing evidence for a combination of the random partitioning of mtDNAs at cell divisions and the random turnover of mtDNA molecules within the cell. Male mitochondrial DNA inheritance has been discovered in Plymouth Rock chickens . Evidence supports rare instances of male mitochondrial inheritance in some mammals as well. Specifically, documented occurrences exist for mice, where
3450-602: A substantial Slavic diaspora in the Americas , Western Europe , and Northern Europe . Early Slavs lived during the Migration Period and the Early Middle Ages (approximately from the 5th to the 10th century AD), and came to control large parts of Central , Eastern , and Southeast Europe between the sixth and seventh centuries. Beginning in the 7th century, they were gradually Christianized . By
3600-532: Is a linear genome made up of homogeneous DNA molecules (type 5). Great variation in mtDNA gene content and size exists among fungi and plants, although there appears to be a core subset of genes present in all eukaryotes (except for the few that have no mitochondria at all). In Fungi, however, there is no single gene shared among all mitogenomes. Some plant species have enormous mitochondrial genomes, with Silene conica mtDNA containing as many as 11,300,000 base pairs. Surprisingly, even those huge mtDNAs contain
3750-467: Is a well-established marker of oxidative DNA damage. In persons with amyotrophic lateral sclerosis (ALS), the enzymes that normally repair 8-oxoG DNA damages in the mtDNA of spinal motor neurons are impaired. Thus oxidative damage to mtDNA of motor neurons may be a significant factor in the etiology of ALS. Over the past decade, an Israeli research group led by Professor Vadim Fraifeld has shown that strong and significant correlations exist between
3900-547: Is also no evidence of Asian admixture. However, samples of Novosibirsk residents and Old Believers in Siberia have 5-10% Central Siberian ancestry despite being genetically close to European Slavs. The pagan Slavic populations were Christianized between the 7th and 12th centuries. Orthodox Christianity is predominant among East and South Slavs, while Catholicism is predominant among West Slavs and some western South Slavs . The religious borders are largely comparable to
4050-526: Is also observed. Balts , however, according to the PCA analysis are less proximal to Bulgarians than Italians for example are. Bulgarians are also only modestly close to their eastern neighbours – the Anatolian Turks, suggesting the presence of certain geographic and cultural barriers between them. Despite various invasions of Altaic-speaking peoples in Europe, no significant impact from such Asian descent
4200-492: Is data supporting the involvement of helix-distorting intrinsically curved regions and long G-tetrads in eliciting instability events. In addition, higher breakpoint densities were consistently observed within GC-skewed regions and in the close vicinity of the degenerate sequence motif YMMYMNNMMHM. Unlike nuclear DNA, which is inherited from both parents and in which genes are rearranged in the process of recombination , there
4350-408: Is defined as the last stage of the language preceding the geographical split of the historical Slavic languages . That language was uniform, and on the basis of borrowings from foreign languages and Slavic borrowings into other languages, it cannot be said to have any recognizable dialects, which suggests that there was, at one time, a relatively-small Proto-Slavic homeland . Slavic linguistic unity
4500-700: Is no evidence for that. They were from a burial site from the Monastery of Mostich in Preslav , Nozharevo , Tuhovishte and most came out European mtDNA haplogroup H, including H1, H1an2, H1r1, H1t1a1, H2a2a1 H5, H13a2c1, H14b1, HV1, J, J1b1a1, T, T2, U4a2b, U4c1 and U3 with the half belonging to Haplogroup H. It was shown a short genetic distance between these samples and modern Bulgarians. After at least 20 mediaval(10-14th century) mtDNA samples from Cedynia and Lednica in Poland , possibly Slavic, had been studied,
4650-514: Is observed in bivalve mollusks. In those species, females have only one type of mtDNA (F), whereas males have F type mtDNA in their somatic cells, but M type of mtDNA (which can be as much as 30% divergent) in germline cells. Paternally inherited mitochondria have additionally been reported in some insects such as fruit flies , honeybees , and periodical cicadas . An IVF technique known as mitochondrial donation or mitochondrial replacement therapy (MRT) results in offspring containing mtDNA from
Genetic studies on Bulgarians - Misplaced Pages Continue
4800-509: Is one hypothesis for why some genes are retained in mtDNA; colocalisation for redox regulation is another, citing the desirability of localised control over mitochondrial machinery. Recent analysis of a wide range of mtDNA genomes suggests that both these features may dictate mitochondrial gene retention. Across all organisms, there are six main mitochondrial genome types, classified by structure (i.e. circular versus linear), size, presence of introns or plasmid like structures , and whether
4950-854: Is particularly high within eastern and Slavic-speaking Europe. A high number of shared IBD segments among East Europeans that can be dated to around 1,000–2,000 YBP was revealed. The highest percentage of the total number of shared pairwise IBD segments is detected between the group of East-West Slavs and South Slavs (41% from the total number of IBD segments detected); Baltic speakers, Estonians (40%) and "inter-Slavic" Hungarians, Romanians and Gagauz (37%). East-West Slavs share these segments with Western Europeans (32%), Volga region populations (30) and North Caucasus (21%). South Slavs also share 41% with East-West Slavs and 37% with Inter-Slavic populations, they also share 31% with Western Europeans and 30% with Greeks. However, per one pair of individuals East-West Slavs share more IBD with Balts than with South Slavs, but not with
5100-449: Is recorded throughout southern and central Europe. The study claims that the major part of the Balto-Slavic genetic variation can be primarily attributed to the assimilation of the pre-existing regional genetic components, which differed for present West, East and South Slavic-speaking people. For Slavic peoples correlations with linguistics came out much lower than high correlations with geography. The South Slavic group, despite sharing
5250-540: Is severely degraded. Autosomal cells only have two copies of nuclear DNA, but can have hundreds of copies of mtDNA due to the multiple mitochondria present in each cell. This means highly degraded evidence that would not be beneficial for STR analysis could be used in mtDNA analysis. mtDNA may be present in bones, teeth, or hair, which could be the only remains left in the case of severe degradation. In contrast to STR analysis, mtDNA sequencing uses Sanger sequencing . The known sequence and questioned sequence are both compared to
5400-486: Is somewhat unusual, given such a wide dispersal of Slavic populations. Together they form the basis of the " East European " gene cluster , which also includes non-Slavic Hungarians and Aromanians . Only Northern Russians among East and West Slavs belong to a different, " Northern European " genetic cluster, along with Balts , Germanic and Baltic Finnic peoples (Northern Russian populations are very similar to Balts). The 2006 Y-DNA study results "suggest that
5550-508: Is suggested that the major part of the within-Balto-Slavic genetic variation can be mainly attributed to the assimilation of the pre-existing regional genetic components, which differ for West, East and South Slavic-speaking peoples. Around 4% of Bulgarian genes are derived outside of Europe and the Middle East or are of undetermined origin (by 858 CE), of which 2.3% are from Northeast Asia and correspond to Asian tribes such as Bulgars ,
5700-524: Is the DNA located in the mitochondria organelles in a eukaryotic cell that converts chemical energy from food into adenosine triphosphate (ATP). Mitochondrial DNA is a small portion of the DNA contained in a eukaryotic cell; most of the DNA is in the cell nucleus , and, in plants and algae, the DNA also is found in plastids , such as chloroplasts . Human mitochondrial DNA was the first significant part of
5850-485: Is the first multicellular organism known to have this absence of aerobic respiration and live completely free of oxygen dependency. There are three different mitochondrial genome types in plants and fungi. The first type is a circular genome that has introns (type 2) and may range from 19 to 1000 kbp in length. The second genome type is a circular genome (about 20–1000 kbp) that also has a plasmid-like structure (1 kb) (type 3). The final genome type found in plants and fungi
6000-728: Is the most spoken Slavic language, and is the most spoken native language in Europe. The alphabets used for Slavic languages are usually connected to the dominant religion among the respective ethnic groups. Orthodox Christians use the Cyrillic alphabet while Catholics use the Latin alphabet ; the Bosniaks, who are Muslim, also use the Latin alphabet and Cyrillic alphabet in Serbia. Additionally, some Eastern Catholics and Western Catholics use
6150-514: Is the prevailing subclade among Bulgarians. Most of the U-carriers belong to U5 and U4. The distribution of the subclades of Haplogroup H have not been revealed. Recent studies show greater diversity within mt Haplogroups than once thought, as sub-haplogroups are being discovered, and often separate migrations and distributions of the Y-DNA haplogroups. While the Y-DNA variation in Europe is clinal,
Genetic studies on Bulgarians - Misplaced Pages Continue
6300-650: Is the reason of more inherited diseases The blood type of 21,568 Bulgarians is 37% A+, 28% 0+, 14% B+, 7% AB+, 6+ A−, 4% 0−, 2% B−, 1% AB−, a distribution similar to Sweden, the Czech Republic and Turkey. Despite the most common haplogroup among Bulgarians being 14000 years old I2a1b at 20%, 8000 years old hunter-gatherer samples of the same haplogroup came out genetically very distant from Bulgarian and Balkan individuals by an autosomal analysis of skeletal remains from Loschbour cave in Luxembourg. Computing
6450-474: Is the result of migrations no earlier than 1500 years ago. A study on genetic admixture filtered to 474,491 autosomal SNPs and including 18 Bulgarians concluded that there is a recent excess of identical by descent sharing in Eastern Europe, and recent period of exchanged segments speculating that this may correspond to the Slavic expansion across this region. A signal at a low frequency among Balkan Slavs
6600-452: Is used in an analogous way to determine the patrilineal history.) This is usually accomplished on human mitochondrial DNA by sequencing the hypervariable control regions (HVR1 or HVR2), and sometimes the complete molecule of the mitochondrial DNA, as a genealogical DNA test . HVR1, for example, consists of about 440 base pairs. These 440 base pairs are compared to the same regions of other individuals (either specific people or subjects in
6750-510: Is usually no change in mtDNA from parent to offspring. Although mtDNA also recombines, it does so with copies of itself within the same mitochondrion. Because of this and because the mutation rate of animal mtDNA is higher than that of nuclear DNA, mtDNA is a powerful tool for tracking ancestry through females ( matrilineage ) and has been used in this role to track the ancestry of many species back hundreds of generations. mtDNA testing can be used by forensic scientists in cases where nuclear DNA
6900-700: The Sclaveni in Latin . The oldest documents written in Old Church Slavonic , dating from the 9th century, attest the autonym as Slověne ( Словѣне ). Those forms point back to a Slavic autonym , which can be reconstructed in Proto-Slavic as *Slověninъ , plural Slověne . The reconstructed autonym * Slověninъ is usually considered a derivation from slovo ("word"), originally denoting "people who speak (the same language)", meaning "people who understand one another", in contrast to
7050-521: The POLG2 gene. The replisome machinery is formed by DNA polymerase, TWINKLE and mitochondrial SSB proteins . TWINKLE is a helicase , which unwinds short stretches of dsDNA in the 5' to 3' direction. All these polypeptides are encoded in the nuclear genome. During embryogenesis , replication of mtDNA is strictly down-regulated from the fertilized oocyte through the preimplantation embryo. The resulting reduction in per-cell copy number of mtDNA plays
7200-721: The Boii ), Old Prussians , and the Pannonian Avars . The West Slavs came under the influence of the Western Roman Empire (Latin) and of the Catholic Church . East Slavs have origins in early Slavic tribes who mixed and contacted with Finns , Balts and with the remnants of the people of the Goths . Their early Slavic component, Antes , mixed or absorbed Iranians , and later received influence from
7350-458: The East–West Schism which began in the 11th century. Islam first arrived in the 7th century during the early Muslim conquests , and was gradually adopted by a number of Slavic ethnic groups through the centuries in the Balkans. Among Slavic populations who profess a religion, the majority of contemporary Christian Slavs are Orthodox, followed by Catholic. The majority of Muslim Slavs follow
7500-554: The Hanafi school of the Sunni branch of Islam. Religious delineations by nationality can be very sharp; usually in the Slavic ethnic groups, the vast majority of religious people share the same religion. Mainly Eastern Orthodoxy : Mainly Catholicism : Mainly Islam : Throughout their history, Slavs came into contact with non-Slavic groups. In the postulated homeland region (present-day Ukraine ), they had contacts with
7650-559: The Hunger Plan , Germany's intentional starvation of the region, as well as the murders of 3.3. million Soviet prisoners of war . Germany's Heinrich Himmler also ordered his subordinate Ludolf-Hermann von Alvensleben to start repopulating Crimea , and hundreds of ethnic Germans were forcibly moved to cities and villages there. The Soviet Red Army took back their land from the Germans in 1944 . Stephen J. Lee estimates that, by
SECTION 50
#17327811729327800-691: The Khazars and Vikings . The East Slavs trace their national origins to the tribal unions of Kievan Rus' and Rus' Khaganate , beginning in the 10th century. They came particularly under the influence of the Byzantine Empire and of the Eastern Orthodox Church . South Slavs from most of the region have origins in early Slavic tribes who mixed with the local Proto-Balkanic tribes ( Illyrian , Dacian , Thracian , Paeonian , Hellenic tribes ), and Celtic tribes (particularly
7950-788: The Kingdom of Serbs, Croats and Slovenes . The first half of the 20th century in Russia and the Soviet Union was marked by a succession of wars, famines and other disasters, each accompanied by large-scale population losses. The two major famines were in 1921 to 1923 and 1932 to 1933 , which caused millions of deaths mostly around Ukraine and the Northern Caucasus . The latter resulted from Soviet leader Joseph Stalin 's collectivization of agriculture in Ukraine . During
8100-532: The Kostenki-14 remains). Slavs The Slavs or Slavic people are groups of people who speak Slavic languages . Slavs are geographically distributed throughout the northern parts of Eurasia ; they predominantly inhabit Central Europe , Eastern Europe , Southeastern Europe , and Northern Asia , though there is a large Slavic minority scattered across the Baltic states and Central Asia , and
8250-882: The Peloponnese and Asia Minor being reported to have Slavic settlements. This southern movement has traditionally been seen as an invasive expansion. By the end of the 6th century, Slavs had settled the Eastern Alps regions . Pope Gregory I in 600 AD wrote to Maximus, the bishop of Salona (in Dalmatia ), expressing concern about the arrival of the Slavs: Latin: " Et quidem de Sclavorum gente, quae vobis valde imminet, et affligor vehementer et conturbor. Affligor in his quae jam in vobis patior; conturbor, quia per Istriae aditum jam ad Italiam intrare coeperunt. " English: "I am both distressed and disturbed about
8400-569: The Prague -type pottery associated with Slavs was not found anywhere south of the Danube where large numbers of Slavic-speaking people emerged in the early Middle Ages. Around the 6th century, Slavs appeared on Byzantine borders in large numbers. Byzantine records note that Slav numbers were so great, that grass would not regrow where the Slavs had marched through . Military movements resulted in even
8550-533: The Roman world, Slavic -speaking tribes formed part of several successive multi-ethnic confederacies of Eurasia – such as the Sarmatian, Hun and Gothic empires. The Slavs emerged from obscurity when the westward movement of Germanic tribes in the 5th and 6th centuries AD (thought to be in conjunction with the movement of peoples from Siberia and Eastern Europe: Huns , and later Avars and Bulgars ) started
8700-625: The Scordisci ), as well as with Romans (and the Romanized remnants of the former groups), and also with remnants of temporarily settled invading East Germanic, Asiatic or Caucasian tribes such as Gepids , Huns , Avars , Goths and Bulgars . The original inhabitants of present-day Slovenia and continental Croatia have origins in early Slavic tribes who mixed with Romans and romanized Celtic and Illyrian people as well as with Avars and Germanic peoples (Lombards and East Goths). The South Slavs (except
8850-590: The Vandals to the Iberian Peninsula and even to North Africa . On the other hand, historian Florin Curta categorically dismisses the concept of "Slavs' migration" and opts instead for short-distance population movements that would explain the spread of Slavic languages . He argues - in favor of this view - that the proposed migration models are inconsistent with the archaeological findings, for example
9000-413: The eukaryotic nucleus during evolution . The reasons mitochondria have retained some genes are debated. The existence in some species of mitochondrion-derived organelles lacking a genome suggests that complete gene loss is possible, and transferring mitochondrial genes to the nucleus has several advantages. The difficulty of targeting remotely-produced hydrophobic protein products to the mitochondrion
9150-668: The great migration of the Slavs, who settled the lands abandoned by Germanic tribes who had fled from the Huns and their allies. Slavs, according to this account, moved westward into the country between the Oder and the Elbe - Saale line; southward into Bohemia , Moravia , much of present-day Austria , the Pannonian plain and the Balkans ; and northward along the upper Dnieper river. It has also been suggested that some Slavs migrated with
SECTION 60
#17327811729329300-586: The human genome to be sequenced. This sequencing revealed that human mtDNA has 16,569 base pairs and encodes 13 proteins . As in other vertebrates, the human mitochondrial genetic code differs slightly from nuclear DNA. Since animal mtDNA evolves faster than nuclear genetic markers, it represents a mainstay of phylogenetics and evolutionary biology . It also permits tracing the relationships of populations, and so has become important in anthropology and biogeography . Nuclear and mitochondrial DNA are thought to have separate evolutionary origins, with
9450-456: The mitochondrial haplogroup N , in sample CC7-2289 identified mitochondrial haplogroup R , in sample of BK-1653 identified mitochondrial haplogroup U8 . Three Initial Upper Paleolithic individuals (c. 44,000 to 40,000 years ago) from Bacho Kiro cave were each found to have relatively high levels of Neanderthal ancestry, with their genomes suggesting a recent Neanderthal ancestor in all three individuals perhaps six or seven generations back. In
9600-691: The 12th century, they formed the core population of a number of medieval Christian states: East Slavs in the Kievan Rus' , South Slavs in the Bulgarian Empire , the Principality of Serbia , the Duchy of Croatia and the Banate of Bosnia , and West Slavs in the Principality of Nitra , Great Moravia , the Duchy of Bohemia , and the Kingdom of Poland . Beginning in the mid-19th century,
9750-436: The 855 sampled modern Bulgarians come out overally the closest group to these samples out of 20 other European nations and moreover, they share the highest value of haplotypes with the medieval Polish population more than any other compared nation does. Those medieval haplogroups included H, H1a, K1, K2, X2, X4, HV, J1b, R0a, HV0, H5a1a, N1b, T1a, J1b and W. The samples came out distant from modern Polish population, but nearest to
9900-456: The Balkans were Slavicized. Thracians and Illyrians mixed as ethnic groups in this period. A notable exception is Greece, where Slavs were Hellenized because Greeks were more numerous, especially with more Greeks returning to Greece in the 9th century and the influence of the church and administration, however, Slavicized regions within Macedonia , Thrace and Moesia Inferior also had
10050-670: The Bosniaks, mostly identify as Muslims . Modern Slavic nations and ethnic groups are considerably diverse, both genetically and culturally, and relations between them may range from "ethnic solidarity to mutual feelings of hostility" — even within the individual groups. The oldest mention of the Slavic ethnonym is from the 6th century AD, when Procopius , writing in Byzantine Greek , used various forms such as Sklaboi ( Σκλάβοι ), Sklabēnoi ( Σκλαβηνοί ), Sklauenoi ( Σκλαυηνοί ), Sthlabenoi ( Σθλαβηνοί ), or Sklabinoi ( Σκλαβῖνοι ), and his contemporary Jordanes refers to
10200-748: The Bulgarians, however the same study determines the Yugoslavs as the nearest population to Bulgarians. According to DNA data for 17 Y-chromosomal STR loci in Macedonians, the Macedonian population has the lowest genetic distance against the Bulgarian population (0.0815). According to an older study of 127 Bulgarian males, frequencies are the following: 30% R (17% R1a, 11% R1b, 2% R*); 27.5% I; 20% E; 18% J; 1.5% G; 1.5% H; 1% T. According to another study involving 126 Bulgarian males, frequencies are
10350-449: The Cyrillic alphabet. Serbian and Montenegrin use both the Cyrillic and Latin alphabets. There is also a Latin script to write in Belarusian, called Łacinka and in Ukrainian, called Latynka . West Slavs originate from early Slavic tribes which settled in Central Europe after the East Germanic tribes had left this area during the migration period . They are noted as having mixed with Germanics , Hungarians , Celts (particularly
10500-427: The Eastern and Western Slavs are characterized by the k3 component and hg R1a . The presence of two distinct genetic substrata in the genes of East-West and South Slavs would conclude that assimilation of indigenous populations by bearers of Slavic languages was a major mechanism of the spread of Slavic languages to the Balkan Peninsula. Southeastern Europeans share large numbers of common ancestors that date roughly to
10650-410: The Hungarian population, furthermore only datasets of two more Balkan or Slavic foreign populations(Greece and Croatia) are used and all other Slavic populations are excluded from this analysis. The largest-scale study of the Hungarians (n=230) determined that the remaining Finno-Urgic peoples are genetically their furthest populations, and clearly confirmed that the closest Europeans to the Hungarians are
10800-746: The Iranian Sarmatians and the Germanic Goths . After their subsequent spread, the Slavs began assimilating non-Slavic peoples. For example, in the Northern Black Sea region, the Slavs assimilated the remnants of the Goths. In the Balkans, there were Paleo-Balkan peoples, such as Romanized and Hellenized ( Jireček Line ) Illyrians , Thracians and Dacians , as well as Greeks and Celtic Scordisci and Serdi . Because Slavs were so numerous, most indigenous populations of
10950-572: The Revised Cambridge Reference Sequence to generate their respective haplotypes. If the known sample sequence and questioned sequence originated from the same matriline, one would expect to see identical sequences and identical differences from the rCRS. Cases arise where there are no known samples to collect and the unknown sequence can be searched in a database such as EMPOP. The Scientific Working Group on DNA Analysis Methods recommends three conclusions for describing
11100-708: The Sclaveni as having swamps and forests for their cities. Another 6th-century source refers to them living among nearly-impenetrable forests, rivers, lakes, and marshes. Menander Protector mentions Daurentius ( r. c. 577 – 579 ) who slew an Avar envoy of Khagan Bayan I for asking the Slavs to accept the suzerainty of the Avars; Daurentius declined and is reported as saying: "Others do not conquer our land, we conquer theirs – so it shall always be for us as long as there are wars and weapons". According to eastern homeland theory, prior to becoming known to
11250-485: The Slavic expansion started from the territory of present-day Ukraine, thus supporting the hypothesis placing the earliest known homeland of Slavs in the basin of the middle Dnieper ". According to genetic studies until 2020, the distribution, variance and frequency of the Y-DNA haplogroups R1a and I2 and their subclades R-M558, R-M458 and I-CTS10228 among South Slavs correlate with the spread of Slavic languages during
11400-636: The Slavic word denoting " German people ", namely *němьcь , meaning "silent, mute people" (from Slavic *němъ " mute , mumbling"). The word slovo ("word") and the related slava ("glory, fame") and sluh ("hearing") originate from the Proto-Indo-European root *ḱlew- ("be spoken of, glory"), cognate with Ancient Greek κλέος ( kléos "fame"), as in the name Pericles , Latin clueō ("be called"), and English loud . In medieval and early modern sources written in Latin, Slavs are most commonly referred to as Sclaveni or
11550-543: The Slavs, who are pressing hard on you. I am distressed because I sympathize with you; I am disturbed because they have already begun to arrive in Italy through the entry-point of Istria ." When Slav migrations ended, their first state organizations appeared, each headed by a prince with a treasury and a defense force. In the 7th century, the Frankish merchant Samo supported the Slavs against their Avar rulers and became
11700-918: The Slovenes and Croats) came under the cultural sphere of the Eastern Roman Empire (Byzantine Empire), of the Ottoman Empire and of the Eastern Orthodox Church and Islam , while the Slovenes and the Croats were influenced by the Western Roman Empire (Latin) and thus by the Catholic Church in a similar fashion to that of the West Slavs. Consistent with the proximity of their languages, analyses of Y chromosomes , mDNA , and autosomal marker CCR5de132 shows that East Slavs and West Slavs are genetically very similar, but demonstrating significant differences from neighboring Finno-Ugric, Turkic , and North Caucasian peoples. Such genetic homogeneity
11850-691: The West, East, and South Slavs would imply several mechanisms, including cultural assimilation of indigenous populations by bearers of Slavic languages as a major mechanism of the spread of Slavic languages to the Balkan Peninsula. About 55% of the Bulgarian autosomal genetic legacy is Mediterranean, about the half of which resembles the Caucasian, Middle Eastern and to a lesser extent the North African genetics. Combining all lines of evidence, it
12000-543: The accumulation of deleterious mutations until functionality is lost. Animal populations of mitochondria avoid this through a developmental process known as the mtDNA bottleneck . The bottleneck exploits random processes in the cell to increase the cell-to-cell variability in mutant load as an organism develops: a single egg cell with some proportion of mutant mtDNA thus produces an embryo in which different cells have different mutant loads. Cell-level selection may then act to remove those cells with more mutant mtDNA, leading to
12150-419: The accumulation of mtDNA damage in several organs of rats. For example, dietary restriction prevented age-related accumulation of mtDNA damage in the cortex and decreased it in the lung and testis. Increased mt DNA damage is a feature of several neurodegenerative diseases . The brains of individuals with Alzheimer's disease have elevated levels of oxidative DNA damage in both nuclear DNA and mtDNA, but
12300-449: The admixture event is set at 900-1300 CE. The Slavic frequency of the Bulgarians is determined lower than that of Poles and Hungarians, higher than that of Greeks and roughly the same as Romanians. In the publication by Hellenthal et al. , based on a database of 94 modern populations, the authors inferred over 40% of the total autosomal make-up of the Bulgarians to a legacy of the "Slavic (500-900CE)" expansion. The same publication provided
12450-663: The affairs of the Austro-Hungarian Empire , were calling for national self-determination. During World War I , representatives of the Czechs, Slovaks, Poles, Serbs, Croats, and Slovenes set up organizations in the Allied countries to gain sympathy and recognition. In 1918, after World War I ended, the Slavs established such independent states as Czechoslovakia , the Second Polish Republic , and
12600-677: The best approximation of overall 'relatedness' between populations, presenting a less skewed genetic picture compared to Y-DNA haplogroups. This auDNA data shows that there are no sharp discontinuities or clusters within the European population. Rather there exists a genetic gradient, running mostly in a southeast to northwest direction. A study compared all Slavic nations and combined all lines of evidence, autosomal , maternal and paternal, including more than 6000 people for and at least 700 Bulgarians from previous studies, of which 13 were used for autosomal analysis (right image). The overall data situates
12750-414: The biggest part belongs to macro-haplgoroup R (~28%). The major haplogroups, grouped by age of around 20 kya, are: Haplogroup frequencies of Bulgarians A phylogenetic analysis determines that the population of Haskovo Province has shorter genetic distance against the population of the Czech Republic than to the Bulgarian provinces, and that only the population of Burgas Province is closer to Haskovo than
12900-456: The coding instructions for some proteins, which may have an effect on organism metabolism and/or fitness. Mutations of mitochondrial DNA can lead to a number of illnesses including exercise intolerance and Kearns–Sayre syndrome (KSS), which causes a person to lose full function of heart, eye, and muscle movements. Some evidence suggests that they might be major contributors to the aging process and age-associated pathologies . Particularly in
13050-718: The context of disease, the proportion of mutant mtDNA molecules in a cell is termed heteroplasmy . The within-cell and between-cell distributions of heteroplasmy dictate the onset and severity of disease and are influenced by complicated stochastic processes within the cell and during development. Mutations in mitochondrial tRNAs can be responsible for severe diseases like the MELAS and MERRF syndromes. Mutations in nuclear genes that encode proteins that mitochondria use can also contribute to mitochondrial diseases. These diseases do not follow mitochondrial inheritance patterns, but instead follow Mendelian inheritance patterns. Recently
13200-403: The differences between a known mtDNA sequence and a questioned mtDNA sequence: exclusion for two or more differences between the sequences, inconclusive if there is one nucleotide difference, or cannot exclude if there are no nucleotide differences between the two sequences. The rapid mutation rate (in animals) makes mtDNA useful for assessing genetic relationships of individuals or groups within
13350-626: The differences in animal species maximum life spans in a multiplicative manner (i.e., species maximum life span = their mtDNA GC% * metabolic rate). To support the scientific community in carrying out comparative analyses between mtDNA features and longevity across animals, a dedicated database was built named MitoAge . De novo mutations arise either due to mistakes during DNA replication or due to unrepaired damage caused in turn by endogenous and exogenous mutagens. It has been long believed that mtDNA can be particularly sensitive to damage caused by reactive oxygen species (ROS), however G>T substitutions,
13500-733: The end of World War II in 1945, the Russian population was about 90 million fewer than it could have been otherwise. Also during World War II, fascist Italy sent tens of thousands of Slavs to concentration camps in mainland Italy, Libya , and the Balkans , because Italian leader Benito Mussolini also had a hatred of them. In 1991, the Soviet Union collapsed , and many former Soviet republics became independent countries. Currently, former Soviet states in Central Asia such as Kazakhstan and Kyrgyzstan have very large minority Slavic populations, with most being Russians. Kazakhstan has
13650-624: The ends of the linear DNA ) with different modes of replication, which have made them interesting objects of research because many of these unicellular organisms with linear mtDNA are known pathogens . Most ( bilaterian ) animals have a circular mitochondrial genome. Medusozoa and calcarea clades however include species with linear mitochondrial chromosomes. With a few exceptions, animals have 37 genes in their mitochondrial DNA: 13 for proteins , 22 for tRNAs , and 2 for rRNAs . Mitochondrial genomes for animals average about 16,000 base pairs in length. The anemone Isarachnanthus nocturnus has
13800-742: The era of the emperor Justinian I ( r. 527–565 ), such as Procopius of Caesarea , Jordanes and Theophylact Simocatta , describe tribes of these names emerging from the area of the Carpathian Mountains , the lower Danube and the Black Sea to invade the Danubian provinces of the Eastern Empire . Jordanes, in his work Getica (written in 551 AD), describes the Veneti as a "populous nation" whose dwellings begin at
13950-565: The following two analyses on oneway admixture of the Bulgarian autosomal makeup: 1) 46.0% Belarusian -like (including 23.2% Lithuanian , 19.3% Polish , 2.3% Finnish ) and 54.0% Cypriot -like (including 14.8% Greek , 12.7% Cypriot , 11.9% Arab , 4.1% Italian , 3.3% Georgian , 2.0% Sardinian , 2.8% Iranian ) 2) 59.0% Polish -like (including 54.5% Polish , 4.0% English ) and 40.9% Cypriot -like (including 15.3% Cypriot , 14.9% Arab , 3.5% Georgian , 2.4% Sardinian , 1.4% Hezhen , 1.3% Greek ). The genetic diversity among Bulgarians
14100-570: The following: 30% I (25.5% I2a, 4% I1); 20,5% E; 17.5% R (R1b 11%, R1a 6%); 17.5% J (16% J2); 5.5% G; 4% Q; 1% L; 1% T; unknown 3%. According to another study involving 100 Bulgarian males, frequencies are the following: 34% I (29% I2a, 3% I1); 30% R (16% R1a, 14% R1b); 21% E (20% E1b1b1a); 9% J; 2% G; 2% T; 1% N. Complementary evidence exists from mtDNA data. Bulgaria shows a very similar profile to other European countries – dominated by mitochondrial haplogroups Hg H (~42%), Hg U (~18%), Hg J / Hg T (~18%), and Hg K (~6%). Like most Europeans, H1
14250-713: The frequency of common point mutations of several mtDNA Thracian remains from South-East of Romania with haplogroups H17, H22 and HV has resulted that the Italian (7.9%), the Albanian (6.3%) and the Greek (5.8%) have shown a bias of closer genetic kinship with the Thracian individuals than the Romanian and Bulgarian individuals (4.2%), but it was noted that more mtDNA sequences from Thracian individuals are needed in order to perform
14400-403: The genetic distances of distantly related species. Statistical models that treat substitution rates among codon positions separately, can thus be used to simultaneously estimate phylogenies that contain both closely and distantly related species Mitochondrial DNA was admitted into evidence for the first time ever in a United States courtroom in 1996 during State of Tennessee v. Paul Ware . In
14550-422: The genetic material is a singular molecule or collection of homogeneous or heterogeneous molecules. In many unicellular organisms (e.g., the ciliate Tetrahymena and the green alga Chlamydomonas reinhardtii ), and in rare cases also in multicellular organisms (e.g. in some species of Cnidaria ), the mtDNA is linear DNA . Most of these linear mtDNAs possess telomerase -independent telomeres (i.e.,
14700-541: The group of East-West Slavs. Most of the East-West Slavs share as many such segments with the South Slavs as they share with the inter-Slavic populations between them. This might suggest Slavic gene flow across the wide area and physical boundaries such as the Carpathian Mountains, including Hungarians, Romanians and Gagauz. Notably, the number of common ancestors within the last 1,000 to 2,000 years
14850-477: The hallmark of the oxidative damage in the nuclear genome, are very rare in mtDNA and do not increase with age. Comparing the mtDNA mutational spectra of hundreds of mammalian species, it has been recently demonstrated that species with extended lifespans have an increased rate of A>G substitutions on single-stranded heavy chain. This discovery led to the hypothesis that A>G is a mitochondria-specific marker of age-associated oxidative damage. This finding provides
15000-421: The human mitochondrial DNA are distinguished as the heavy strand and the light strand. The heavy strand is rich in guanine and encodes 12 subunits of the oxidative phosphorylation system, two ribosomal RNAs (12S and 16S), and 14 transfer RNAs (tRNAs). The light strand encodes one subunit, and 8 tRNAs. So, altogether mtDNA encodes for two rRNAs, 22 tRNAs, and 13 protein subunits , all of which are involved in
15150-521: The hunter-gatherer admixture in Bulgarians at a level from ca. 1/3. The impact of Yamnaya culture is estimated at 20-30%, which is most common among the Slavs. A later study published by Cell Press in 2023, focused on demographic developments in the Balkan peninsula during the first millennium CE, also examined the DNA of present-day populations from the Balkans, among them Bulgarians. It determined that present-day Bulgarians, like all other populations in
15300-524: The idea is controversial, some evidence suggests a link between aging and mitochondrial genome dysfunction. In essence, mutations in mtDNA upset a careful balance of reactive oxygen species (ROS) production and enzymatic ROS scavenging (by enzymes like superoxide dismutase , catalase , glutathione peroxidase and others). However, some mutations that increase ROS production (e.g., by reducing antioxidant defenses) in worms increase, rather than decrease, their longevity. Also, naked mole rats , rodents about
15450-466: The initiation of the transcription of the heavy and light strands are located in the main non-coding region of the mtDNA called the displacement loop, the D-loop . There is evidence that the transcription of the mitochondrial rRNAs is regulated by the heavy-strand promoter 1 (HSP1), and the transcription of the polycistronic transcripts coding for the protein subunits are regulated by HSP2. Measurement of
15600-576: The largest Slavic minority population. Proto-Slavic , the supposed ancestor language of all Slavic languages, is a descendant of common Proto-Indo-European , via a Balto-Slavic stage in which it developed numerous lexical and morphophonological isoglosses with the Baltic languages . In the framework of the Kurgan hypothesis , "the Indo-Europeans who remained after the migrations [from the steppe] became speakers of Balto-Slavic". Proto-Slavic
15750-558: The largest mitochondrial genome of any animal at 80,923 bp. The smallest known mitochondrial genome in animals belongs to the comb jelly Vallicula multiformis , which consist of 9,961 bp. In February 2020, a jellyfish-related parasite – Henneguya salminicola – was discovered that lacks a mitochondrial genome but retains structures deemed mitochondrion-related organelles. Moreover, nuclear DNA genes involved in aerobic respiration and in mitochondrial DNA replication and transcription were either absent or present only as pseudogenes . This
15900-755: The latter consists of these 4 haplogroups. A consistent pattern of both all national and regional groups of Bulgarians and Balto-Slavs is that their sum of haplogroups R1a and I2 is always larger than their sum of R1b and I1, while this ratio is vice versa in the Europeans not native to the Post- Eastern Bloc . Bulgarians, as some of their neighbours show the highest diversity of haplogroups in Europe, marked by significant (> 10%) frequencies of 5 major haplogroups. Most Bulgarians belong to three unrelated haplogroups, 20% of whom to I-M423 (I2a1b), 18% to E-V13 (E1b1b1a1b1a) and 17% to R-Z282 (R1a1ab1), but
16050-415: The levels of the mtDNA-encoded RNAs in bovine tissues has shown that there are major differences in the expression of the mitochondrial RNAs relative to total tissue RNA. Among the 12 tissues examined the highest level of expression was observed in heart, followed by brain and steroidogenic tissue samples. As demonstrated by the effect of the trophic hormone ACTH on adrenal cortex cells, the expression of
16200-443: The longevity of species. The application of a mitochondrial-specific ROS scavenger, which lead to a significant longevity of the mice studied, suggests that mitochondria may still be well-implicated in ageing. Extensive research is being conducted to further investigate this link and methods to combat ageing. Presently, gene therapy and nutraceutical supplementation are popular areas of ongoing research. Bjelakovic et al. analyzed
16350-614: The major period of European population expansion occurred after the Holocene. Thus the current geographic spread and frequency of haplogroups has been continually shaped from the time of Palaeolithic colonization to beyond the Neolithic. This process of genetic shaping continued into recorded history, such as the Slavic migrations. Recent studies of ancient DNA have revealed that European populations are largely descending from three ancestral groups. The first one are Paleolithic Siberians,
16500-424: The male-inherited mitochondria were subsequently rejected. It has also been found in sheep, and in cloned cattle. Rare cases of male mitochondrial inheritance have been documented in humans. Although many of these cases involve cloned embryos or subsequent rejection of the paternal mitochondria, others document in vivo inheritance and persistence under lab conditions. Doubly uniparental inheritance of mtDNA
16650-476: The medieval Slavic expansion from Eastern Europe, most probably from the territory of present-day Ukraine and Southeastern Poland . According to a 2017 study, Slavic speakers like Russians, Ukrainians and Belarusians have similar genetic components. Ukrainians and Belarusians have near-equal amounts of two "European components", which are commonly found in North Europe and Caucasus respectively. There
16800-525: The mitochondrial genes may be strongly regulated by external factors, apparently to enhance the synthesis of mitochondrial proteins necessary for energy production. Interestingly, while the expression of protein-encoding genes was stimulated by ACTH, the levels of the mitochondrial 16S rRNA showed no significant change. In most multicellular organisms , mtDNA is inherited from the mother (maternally inherited). Mechanisms for this include simple dilution (an egg contains on average 200,000 mtDNA molecules, whereas
16950-626: The mitochondrial is not. MtDNA haplgroups of ~1000 Bulgarians: Whilst haploid markers such as mtDNA and Y-DNA can provide clues about past population history, they only represent a single genetic locus, compared to hundreds of thousands present in nuclear, autosomes. Although autosomal analyses often sample a small number of Bulgarians, by multiple autosomes multiple ancestral lines may be traced by an individual's 21 autosomes as opposed to one identical mtDNA or Y-DNA sex chromosome, whose inheritance although clinal, demonstrates genetic drift often in statistics. Analyses of autosomal DNA markers gives
17100-458: The modern Bulgarian and Czech population. 20 medieval(9-12th century) samples from Slovakian sites Nitra Šindolka and 8 from Čakajovce were compared to modern population and Bulgarians, and Portuguese came out nearest to them by genetic distance, however all these came out distant to modern Slovak population. Further evidence from ancient DNA , reconsiderations of mutation rates, and collateral evidence from autosomal DNA growth rates suggest that
17250-480: The mtDNA base composition and animal species-specific maximum life spans. As demonstrated in their work, higher mtDNA guanine + cytosine content ( GC% ) strongly associates with longer maximum life spans across animal species. An additional observation is that the mtDNA GC% correlation with the maximum life spans is independent of the well-known correlation between animal species metabolic rate and maximum life spans. The mtDNA GC% and resting metabolic rate explain
17400-448: The mtDNA derived from the circular genomes of bacteria engulfed by the ancestors of modern eukaryotic cells. This theory is called the endosymbiotic theory . In the cells of extant organisms, the vast majority of the proteins in the mitochondria (numbering approximately 1500 different types in mammals ) are coded by nuclear DNA , but the genes for some, if not most, of them are thought to be of bacterial origin, having been transferred to
17550-838: The mtDNA has approximately 10-fold higher levels than nuclear DNA. It has been proposed that aged mitochondria is the critical factor in the origin of neurodegeneration in Alzheimer's disease. Analysis of the brains of AD patients suggested an impaired function of the DNA repair pathway, which would cause reduce the overall quality of mtDNA. In Huntington's disease , mutant huntingtin protein causes mitochondrial dysfunction involving inhibition of mitochondrial electron transport , higher levels of reactive oxygen species and increased oxidative stress . Mutant huntingtin protein promotes oxidative damage to mtDNA, as well as nuclear DNA, that may contribute to Huntington's disease pathology . The DNA oxidation product 8-oxoguanine (8-oxoG)
17700-558: The mtDNAs were taken. mtDNA can be used to estimate the relationship between both closely related and distantly related species. Due to the high mutation rate of mtDNA in animals, the 3rd positions of the codons change relatively rapidly, and thus provide information about the genetic distances among closely related individuals or species. On the other hand, the substitution rate of mt-proteins is very low, thus amino acid changes accumulate slowly (with corresponding slow changes at 1st and 2nd codon positions) and thus they provide information about
17850-581: The multiple dispersal Out of Africa theory , East Asians are found to have a more distant split time from East African populations (73-88kya) compared to modern Europeans (57-76 kya) which could mean that the Bacho Kiro remains could be from a migration of anatomically modern humans from Asia. In 2022, a study determined that the IUP-affiliated Bacho Kiro remains were part of an Initial Upper Paleolithic wave (>45kya) "ascribed to
18000-472: The nucleus. mtDNA is packaged with proteins which appear to be as protective as proteins of the nuclear chromatin. Moreover, mitochondria evolved a unique mechanism which maintains mtDNA integrity through degradation of excessively damaged genomes followed by replication of intact/repaired mtDNA. This mechanism is not present in the nucleus and is enabled by multiple copies of mtDNA present in mitochondria. The outcome of mutation in mtDNA may be an alteration in
18150-650: The official study confirmed only that the two are male and mtDNA of two individuals - U3b for the Svilengrad man and HV for the Stambolovo individual. Haplogroups U for the Krushare man, U2e for the Vratitsa individual have been identified. Those individuals were from Thracian burial sites and are dated at around 450-1500 BC. 20 samples from medieval Bulgarian sites were alleged as originally Bulgar, but there
18300-496: The oldest human remains ever to be found in Bulgaria which are unrelated to the modern-day Europeans. At one of the earliest known Aurignacian burials (layer 11), two pierced animal teeth were found and ordered into the distinct Bachokiran artifact assemblage . Radiocarbon dated to over 43,000 years ago, they currently represent the oldest known ornaments in Europe. With an approximate age of 46,000 years, human fossils consist of
18450-487: The oxidative phosphorylation process. Between most (but not all) protein-coding regions, tRNAs are present (see the human mitochondrial genome map ). During transcription, the tRNAs acquire their characteristic L-shape that gets recognized and cleaved by specific enzymes. With the mitochondrial RNA processing, individual mRNA, rRNA, and tRNA sequences are released from the primary transcript. Folded tRNAs therefore act as secondary structure punctuations. The promoters for
18600-466: The plant and fungal genomes also exist in some protists, as do two unique genome types. One of these unique types is a heterogeneous collection of circular DNA molecules (type 4) while the other is a heterogeneous collection of linear molecules (type 6). Genome types 4 and 6 each range from 1–200 kbp in size. The smallest mitochondrial genome sequenced to date is the 5,967 bp mtDNA of the parasite Plasmodium falciparum . Endosymbiotic gene transfer,
18750-410: The presence of two other waves of immigrants during the first half of the research period. One is from Central and Northern Europe, and the other from the steppe zone which stretches from the Northern Black Sea region to Kazakhstan. However, traces of these peoples are almost lost after 700 AD and they do not left a serious DNA mark among the Balkan populations of today. The Bacho Kiro Cave has yielded
18900-499: The process by which genes that were coded in the mitochondrial genome are transferred to the cell's main genome, likely explains why more complex organisms such as humans have smaller mitochondrial genomes than simpler organisms such as protists. Mitochondrial DNA is replicated by the DNA polymerase gamma complex which is composed of a 140 kDa catalytic DNA polymerase encoded by the POLG gene and two 55 kDa accessory subunits encoded by
19050-553: The region, were affected by two major processes that took place following the end of the Iron Age: Firstly, a 19.3±6.6% of their DNA could be traced to the Bulgarian Early Iron Age natives, another 23.8±7.6% from a Roman-era Balkan population with such Eastern Mediterranean ancestry, additionally, a minor contribution from a Bronze-to-Iron Age expansion in the Balkans, associated with Western Anatolia
19200-401: The rest and the same amount with inter-Slavic as with South Slavs. Per one pair of individuals South Slavs keep sharing most IBD with East-South Slavs and the same amount with the inter-Slavic, followed by Greeks and Western Europeans. For Bulgarians the prevailing donor group in admixture with up to more than 40% are a northeastern group, consistent with the medieval Slav expansion, the date of
19350-409: The results of 78 studies between 1977 and 2012, involving a total of 296,707 participants, and concluded that antioxidant supplements do not reduce all-cause mortality nor extend lifespan, while some of them, such as beta carotene, vitamin E, and higher doses of vitamin A, may actually increase mortality. In a recent study, it was shown that dietary restriction can reverse ageing alterations by affecting
19500-608: The ruler of the first known Slav state in Central Europe, Samo's Empire . This early Slavic polity probably did not outlive its founder and ruler, but it was the foundation for later West Slavic states on its territory. The oldest of them was Carantania ; others are the Principality of Nitra , the Moravian principality (see under Great Moravia ) and the Balaton Principality . The First Bulgarian Empire
19650-442: The same number and kinds of genes as related plants with much smaller mtDNAs. The genome of the mitochondrion of the cucumber ( Cucumis sativus ) consists of three circular chromosomes (lengths 1556, 84 and 45 kilobases), which are entirely or largely autonomous with regard to their replication . Protists contain the most diverse mitochondrial genomes, with five different types found in this kingdom. Type 2, type 3 and type 5 of
19800-587: The second one are Paleolithic European hunter-gatherers , and the third one are early farmers and later arrivals from the Near East and West Asia. According to this, Bulgarians are predominantly (52%) descending from early Neolithic farmers spreading the agriculture from Anatolia, and from West Asian Bronze Age invaders and cluster together with other Southern Europeans. Another of the admixture signals in that farmers involves some ancestry related to East Asians, with ~ 2% total Bulgarian ancestry proportion linking to
19950-623: The shortened version Sclavi . Ancient Roman sources refer to the Early Slavic peoples as "Veneti" , who dwelt in a region of central Europe east of the Germanic tribe of Suebi and west of the Iranian Sarmatians in the 1st and 2nd centuries AD, between the upper Vistula and Dnieper rivers. Slavs - called Antes and Sclaveni - first appear in Byzantine records in the early 6th century AD. Byzantine historiographers of
20100-628: The single dispersal Out of Africa theory , it is believed that populations related to the Initial Upper Palaeolithic population of Bacho Kiro cave contributed ancestry to later Asian populations, because of genetic similarity and to some early West Europeans such as the c. 35,000 year old individual from the Goyet Caves , Belgium, known as 'GoyetQ116-1'. Populations related to these earlier individuals did not contribute detectable ancestry to later European populations. However in
20250-500: The size of mice , live about eight times longer than mice despite having reduced, compared to mice, antioxidant defenses and increased oxidative damage to biomolecules. Once, there was thought to be a positive feedback loop at work (a 'Vicious Cycle'); as mitochondrial DNA accumulates genetic damage caused by free radicals, the mitochondria lose function and leak free radicals into the cytosol . A decrease in mitochondrial function reduces overall metabolic efficiency. However, this concept
20400-918: The sources of the Vistula and occupy "a great expanse of land". He also describes the Veneti as the ancestors of Antes and Slaveni, two early Slavic tribes, who appeared on the Byzantine frontier in the early-6th century. Procopius wrote in 545 that "the Sclaveni and the Antae actually had a single name in the remote past; for they were both called Sporoi in olden times". The name Sporoi derives from Greek σπείρω ("to sow "). He described them as barbarians, who lived under democracy and believed in one god, "the maker of lightning" ( Perun ), to whom they made sacrifice. They lived in scattered housing and constantly changed settlement. In war, they were mainly foot soldiers with shields, spears, bows, and little armour, which
20550-640: The southeastern group (Bulgarians and Macedonians) in a cluster with Romanians , and they are at similar proximity to Gagauzes , Montenegrins and Serbs who are not part of another cluster but are described as 'in between' clusters. Macedonians and Romanians consistently appear to be among the most related to Bulgarians by au, mt, and Y-DNA a conclusion backed also by a pan-European autosomal study investigating 500,568 SNP (loci) of 1,387 Europeans and including 1 or 2 Bulgarians, other more or less extensive data sets situate Bulgarians and Romanians as their nearest . Per HLA-DRB1 allele frequencies Bulgarians are also in
20700-423: The start of World War II was to exterminate, expel, or enslave most or all West and East Slavs from their native lands, so as to make " living space " for German settlers. In early 1941, Germany began planning Generalplan Ost , the genocide of Slavs in Eastern Europe which was supposed to start after a major expansion of German concentration camps in occupied Poland and the fall of Stalin's regime. This plan
20850-463: The times of the Slavic expansion around 1,500 years ago. The eastern European populations with high rates of ( IBD ) are highly coincident with the modern distribution of Slavic languages including Hungary, Romania, Greece and Albania, so it is speculated for Slavic expansion, anyway it was concluded that additional work and methods would be needed to verify this hypothesis. This study detects a considerable connection between Bulgarians and North Slavs that
21000-428: The war, Nazi Germany used hundreds of thousands of people for slave labor in their concentration camps , the majority of whom were Jewish or Slavic. Both groups were a part of what Germans claimed to be a "vast racially subhuman surplus population" that they " intended to eliminate in time from their new empire ", their term for "racial subhumans" being Untermensch . Thus, one of Adolf Hitler 's ambitions at
21150-410: Was conclusively disproved when it was demonstrated that mice, which were genetically altered to accumulate mtDNA mutations at accelerated rate do age prematurely, but their tissues do not produce more ROS as predicted by the 'Vicious Cycle' hypothesis. Supporting a link between longevity and mitochondrial DNA, some studies have found correlations between biochemical properties of the mitochondrial DNA and
21300-461: Was detected that may have been inherited from the medieval Slavic settlers, but it was confirmed that this issue requires further investigation. The short genetic distance of South Slavs does not extend to populations throughout the whole Balkan Peninsula and they are differentiated from all Greek sub-populations that are not Macedonian Greek . The South Slavs share significantly fewer identical by descent segments for length classes with Greeks than with
21450-446: Was founded in 681 as an alliance between the ruling Bulgars and the numerous Slavs in the area, and their South Slavic language, the Old Church Slavonic , became the main and official language of the empire in 864 AD. Bulgaria was instrumental in the spread of Slavic literacy and Christianity to the rest of the Slavic world. Duchy of Croatia was founded in 7th century and later became Kingdom of Croatia . Principality of Serbia
21600-795: Was founded in 8th, Duchy of Bohemia and Kievan Rus' both in the 9th century. The expansion of the Magyars into the Carpathian Basin and the Germanization of Austria gradually separated the South Slavs from the West and East Slavs . Later Slavic states, which formed in the following centuries included the Second Bulgarian Empire , the Kingdom of Poland , Banate of Bosnia , Duklja and Kingdom of Serbia which later grew into Serbian Empire . Pan-Slavism ,
21750-475: Was given as contributing 5.7±2.9% of the present-day Bulgarian genome. Secondly, a demographic process which was found to have already been underway no later than 700 CE, and brought ancestry akin to that of present-day Eastern European Slavic-speaking populations contributed an even more significant component of the present-day Bulgarian genome, making up - according to the aforementioned model - 51.2±2.2% of present-day Bulgarian ancestry. The researchers also found
21900-530: Was predominantly led by the Russian Empire . As of 1878, there were only three majority Slavic states in the world: the Russian Empire, Principality of Serbia and Principality of Montenegro . Bulgaria was effectively independent but was de jure vassal to the Ottoman Empire until official independence was declared in 1908. The Slavic peoples who were, for the most part, denied a voice in
22050-460: Was reported that paternal sperm mitochondria (containing mtDNA) are marked with ubiquitin to select them for later destruction inside the embryo . Some in vitro fertilization techniques, particularly injecting a sperm into an oocyte , may interfere with this. The fact that mitochondrial DNA is mostly maternally inherited enables genealogical researchers to trace maternal lineage far back in time. ( Y-chromosomal DNA , paternally inherited,
22200-433: Was reserved mainly for chiefs and their inner circle of warriors. Their language is "barbarous" (that is, not Greek), and the two tribes are alike in appearance, being tall and robust, "while their bodies and hair are neither very fair or blond, nor indeed do they incline entirely to the dark type, but they are all slightly ruddy in color. And they live a hard life, giving no heed to bodily comforts..." Jordanes describes
22350-686: Was to be carried out gradually over 25 to 30 years. After an approximate 30 million Slavs would be killed through starvation and their major cities depopulated, the Germans were supposed to repopulate Eastern Europe. In June 1941, when Germany invaded the Soviet Union in Operation Barbarossa , Hitler paused the plan to focus on the extermination of the Jews . However, some of the plan was nonetheless implemented. Millions of Slavs were murdered in Eastern Europe; this includes victims of
22500-486: Was to some extent visible as late as Old Church Slavonic (or Old Bulgarian ) manuscripts which, though based on local Slavic speech of Thessaloniki , could still serve the purpose of the first common Slavic literary language. Standardised Slavic languages that have official status in at least one country are: Belarusian , Bosnian , Bulgarian , Croatian , Czech , Macedonian , Montenegrin , Polish , Russian , Serbian , Slovak , Slovene , and Ukrainian . Russian
#931068