Haplogroups

Uno studio approfondito su Reitia, la somma dea dei Veneti, scoprendo le analogie con le dee solari del Nord-Europa. Attraverso mito e archeologia nuove concezioni ampliano gli orizzonti dell'antropologia dei Veneti antichi. Nove pagine di bibliografia internazionale.

This paper presents and links two stories: the story of Cheddar Man and the story of the Y-Haplogroup I2a-L38. Cheddar Man was a Western European hunter-gatherer who perished around 9,100 years ago and whose skeleton was unearthed near the town of Cheddar in Somerset, England in 1903. The I2a-L38 haplogroup is a relatively small subgroup thought to be descended along the paternal line from I2, one of the main haplogroups of the men who originally resettled north-western Europe as the last Ice Age ended. In 2019, analysis of Cheddar Man’s DNA suggested that he is a precursor of the modern I2a-L38 group.

Семененко А.А. Махабхарата, генетика и миграции индоевропейцев //
Государство и общество: взаимодействие и противостояние. Материалы
Седьмой региональной научной конференции (г. Воронеж, 4 февраля 2013 г.)
/ Под общ. ред. В.Н.Глазьева. — Воронеж: издательство "Истоки", 2013. — С.
281—285

Few academic studies to date have clearly distinguished haplogroup HV0 from haplogroup V for the simple reason that V and most of its subclades can only be identified through mutations in the coding region of the mitochondrion, and that studies until a few years ago generally tested only the hypervariable region (HVR) for budget reasons. The frequencies and distribution map on this page consequently do not distinguish between HV0 and V.

Italy is a fascinating country for population geneticists and historians alike. As Metternich said in 1847 "Italy is only a geographical expression". The peninsula was unified by Piedmont two decades later, but Metternich's remark still largely holds true today. There isn't one Italian people, but a multitude of ethnic and cultural groups, often with an independent history of their own going back to ancient times.

RJGG 1 ___________________________________________________________ Принята 28 июня 2014; опубликована 7 июля 2014. Связаться с автором по email: [email protected] Нируны и субклад С2а3-F4002 (старкластер) Жаксылык Сабитов Нурбол Баймуханов Абстракт В начале статьи дадим определение термину «нирун»: Как отмечал Рашид ад-Дин: «Алан-Гоа (легендарная прародительница монголов), согласно мнению и утверждению монголов, после кончины мужа забеременела от луча света, и от нее появилось на свет три сына; и тех, кто принадлежит к роду этих сыновей, называют нирун. Значение слова нирун есть чресла. Указание на эти чистые чресла в том, что они сыновья произошли от сверхъестественного света». Этими тремя сыновьями были Бодончар, Бухату Сальджи и Бугу Хадаки. От них произошло большое количество различных монгольских родов.

A long standing traditional cultural division exists between the Irish, the Welsh and the Highland Scots on one side, who are of Celtic heritage, and the English on the other side, who are of mixed Germanic, French, Celtic and even Roman ancestry. Until recently, no historian could really agree on on much influence the Romans, Anglo-Saxons, Vikings and Normans had had on the British and Irish gene pools, let alone agree on where the Celts came from before that. Were the Celts descended from Bronze or Iron Age invaders from the Continent ? Were they the direct descendants of the Neolithic farmers who built Stonehenge, or even of the Mesolithic hunter-gatherers who recolonised northern Europe at the end of the last glaciation 10,000 years ago ? Before the age of historical population genetics these questions were left to anyone's guess and speculations. The fast paced progress in genetic sequencing have shed a new light on our prehistory and it is now possible to answer all those questions with a great degree of certainty. This page attempts to retrace the origins of the British and Irish people through the analyses of their genetic markers using Y-chromosomal (Y-DNA) haplogroups, which are passed on nearly unaltered from father to son, mitochondrial DNA (mtDNA), which is inherited only from one's mother, and complete genomic studies looking at all the chromosomes.

The origins of the Japanese people is not entirely clear yet. It is common for Japanese people to think that Japan is not part of Asia since it is an island, cut off from the continent. This tells a lot about how they see themselves in relation to their neighbours. But in spite of what the Japanese may think of themselves, they do not have extraterrestrial origins, and are indeed related to several peoples in Asia.

We shall have to go back a long way through history and analyse in depth the genetics, culture and language of the archipelago and try to find out whether the Japanese are indeed unique, and in what way.

During the last Ice Age, which ended approximately 15,000 years ago, Japan was connected to the continent through several land bridges, notably one linking the Ryukyu Islands to Taiwan and Kyushu, one linking Kyushu to the Korean peninsula, and another one connecting Hokkaido to Sakhalin and the Siberian mainland. In fact, the Philippines and Indonesia were also connected to the Asian mainland. This allowed migrations from China and Austronesia towards Japan, about 35,000 years ago. These were the ancestors of the modern Ryukyuans (Okinawans), and the first inhabitants of all Japan.

The Ainu came from Siberia and settled in Hokkaido and Honshu some 15,000 years ago, just before the water levels started rising again. Nowadays the Ryukuyans, the Ainus and the Japanese are considered three ethnically separate groups. We will see why.

Haplogroup I is a fairly rare matrilinear lineage, being found in average in 2% of Europeans and under 1% of Near Easterners. Slightly more elevated concentrations are found in Daghestan, notably among the Dargins (6.5%), Chechens (6%) and Kumyks (5.5%), as well as in isolated parts of Europe such as Mordovia (6%), Latvia (4.5%), Lithuania (3%), Finland (4%), Brittany (3%), Great Britain (4%), Ireland (3%) and Iceland (4%), but also Serbia (3.5%), Croatia (3%), Bosnia-Herzegovina (3%) and parts of Italy. Haplogroup I is absent from Lapland, the Basque country and the Maghreb, three regions that share high levels of mt-haplogroups U5 and HV0/V. Haplogroup N1a, excluding the N1a1b2 subclade (i.e. haplogroup I), is even rarer, being found is less than 0.5% of the European population. N1a(xI) is most common in Yemen (2.5%), Saudi Arabia (2.5%), Kazakhstan (1.5%), Egypt (1%), Armenia (1%), Bosnia-Herzegovina (1%), Lithuania (1%) and Estonia (1%). There seems to be an overlap in distribution between haplogroups N1a and I in the Dinaric Alps and Baltic countries.

The Mongolic-speaking Kalmyks currently inhabiting the steppes of the Volga region have Central Asian ancestry and are organized into the tribal groups. The genetic relationships among these tribes and their origin have remained obscure. We analyzed 17 short tandem repeat and 44 binary polymorphisms of Y-chromosome in 426 individuals mainly from three major tribes of the Kalmyks (the Torguuds, Dörwöds and Khoshuuds). Among these tribes, the Dörwöds and Torguuds, as well as the Kalmyks collectively as an ethnic group, showed relatively close genetic affinities to each other and to the Mongols and Altaian Kazakhs, whereas the Khoshuuds were clearly separated from all of them, gathering with the Manchu, Tibetans or Evenks (depending on the algorithm used to calculate genetic distances). The genetic results also indicate that paternal gene flow from East Europeans to the Kalmyks is very little, despite their cohabitation in the North Caspian Steppe during the last 380 years. The occurrence of unique cluster of N1c-Tat haplotypes in the Khoshuuds, which dates to about 340 years and is likely to have East European ancestry, is considered as a result of interethnic contacts occurred soon after the appearance of the Kalmyk tribes in the Volga-Ural region.

Mitochondrial haplogroup U2 is a very old maternal lineage associated with the Paleolithic Europeans and Central Asians. Nearly absent from Neolithic settlements, it appears to have been re-introduced in most of Europe by the Indo-European speakers from eastern Europe during the Bronze Age.

We study the major levels of Y-chromosome haplogroup variation in 15 Sudanese populations by typing major Y-haplogroups in 445 unrelated males representing the three linguistic families in Sudan. Our analysis shows Sudanese populations fall into haplogroups A, B, E, F, I, J, K, and R in frequencies of 16.9, 7.9, 34.4, 3.1, 1.3, 22.5, 0.9, and 13% respectively. Haplogroups A, B, and E occur mainly in Nilo-Saharan speaking groups including Nilotics, Fur, Borgu, and Masalit; whereas haplogroups F, I, J, K, and R are more frequent among Afro-Asiatic speaking groups including Arabs, Beja, Copts, and Hausa, and Niger-Congo speakers from the Fulani ethnic group. Mantel tests reveal a strong correlation between genetic and linguistic struc-tures (r 5 0.31, P 5 0.007), and a similar correlation between genetic and geographic distances (r 5 0.29, P 5 0.025) that appears after removing nomadic pastoralists of no known geographic locality from the analysis. The bulk of genetic diversity appears to be a consequence of recent migrations and demographic events mainly from Asia and Europe, evident in a higher migration rate for speakers of Afro-Asiatic as compared with the Nilo-Saharan family of languages, and a generally higher effective population size for the former. The data provide insights not only into the history of the Nile Valley, but also in part to the history of Africa and the area of the Sahel. Am J Phys Anthropol 000:000-000,

PART 1 (vol.2, issue 3, 2016) and Part 2 (vol.2, issue 4, 2016) of this series respectively dealt with the migration of people speaking Tibeto-Burman (TB) languages into India from the Southwest of Sichuan province of China around 7000 BCE (Before Common Era) and of speakers of Bodic languages into the Tibeto-Himalayan region from the north much later around 3000 BCE. However, this cannot be the full story about migrations into the northeast or of the TB group of speakers. We need to take into account the presence of at least one more major language group in the northeast, namely, the speakers of Austroasiatic (AA) languages. At present, a major AA language of the northeast is Khasi, spoken by about 1.5 million people in the State of Meghalaya. Although, it is a major language of a state, it has not yet been included in the 8th Schedule of the Constitution of India, in spite of demands since the early 1970s.

The author offers his vision on some problems and issues connected with two Indo-European haplogroups: R1a and R1b. The first question raised will be: «Which nations were mono-haplogroupic and which -poly-haplogroupic, and what factors affected this phenomenon?».

Mitochondrial DNA (mtDNA) variation was investigated in a sample of 299 Latvians, a Baltic-speaking population from Eastern Europe. Sequencing of the first hypervariable segment (HVS-I) in combination with analysis of informative coding region markers revealed that the vast majority of observed mtDNAs belong to haplogroups (hgs) common to most European populations. Analysis of the spatial distribution of mtDNA haplotypes found in Latvians, as well as in Baltic-speaking populations in general, revealed that they share haplotypes with all neighbouring populations irrespective of their linguistic affiliation. Hence, the results of our mtDNA analysis show that the previously described sharp difference between the Y-chromosomal hg N3 distribution in the paternally inherited gene pool of Baltic-speaking populations and of other European Indo-European speakers does not have a corresponding maternal counterpart.

This study identifies and describes 38 branches of the haplogroup R1a STR haplotypes which currently exist in Europe or which migrated from Europe to areas in the east, south, and southeast between 6000 and 4500 years before the present (ybp). The study is based on 2471 haplotypes which have been tested for either 67-or 111-markers; it essentially creates a unified robust system, which assembles dozens of R1a-SNPs and thousands of STRs and assigned haplotypes to branches, some of which do not have SNP assignments as yet. The assembled system consists of base (deduced ancestral) haplotypes, one for each STR branch and for each SNP-assigned subclade, each with its characteristic (ancestral) set of alleles, arranged in the chronological space from ~9000 ybp to 1300 ybp. We found that the most ancient R1a subclades (R1a1-M198− and R1a1a-M198+/M417−) bearers of which currently live in Europe (the present day haplotypes are scattered between England and the Balkans) appeared in Europe at least 7300 ybp, and possibly 9000 ybp. R1a's three principal downstream subclades, L664 (North-Western branch), Z93 (South-Eastern branch), and Z283 (Eurasian branch), split from their common European ancestor at about the same time, around 7000 -6000 ybp. L664 apparently stayed in North-Western Europe; its lineage recovered and began expanding ~4575 ybp. The Z93 subclade began to expand during the Aryan migrations, on the Aryan's journey to India and the Middle East in the 3rd-2nd millennia BC. The Z283 subclade split ~5500 ybp into three branches. One of them, Z280 (the Central Eurasian branch) moved east to the Russian Plain in 4800 -4600 ybp, and formed at least 16 sub-branches there and in the course of the later westward repopulation of Europe in the 1st millennium BC-1st millennium CE. Some of the older branches, like the Russian Plain branch, largely stayed in the present Russia-Ukraine-Belarus-Poland-Baltic countries region, and were described by early historians as the Scythians, Antes, Veneti, and a multitude of different proto-Slavic tribes (though many of them belonged to haplogroups other than R1a, primarily I1 and I2). Those R1a branches which are "older" than 3000 years, such as the Russian Plain branch (4600 ybp), the Western Eurasian (4300 ybp), and the Balto-Carpathian (4300 ybp), did not move en mass to Europe but stayed behind at the Russian Plain. In the middle of 1st millennium CE, the time of the collapse of the Roman Empire, multiple migrations of R1a were taking place eastward and westward; these migrations gradually formed the current landscape of R1a in Europe. All 38 branches and their datings are listed in the Appendix of this paper; current distribution maps are shown in the body of the paper.

Vlad III The Impaler, also known as Dracula, descended from the dynasty of Basarab, the first rulers of independent Wallachia, in present Romania. Whether this dynasty is of Cuman (an admixed Turkic people that reached Wallachia from the East in the 11 th century) or of local Romanian (Vlach) origin is debated among historians. Earlier studies have demonstrated the value of investigating the Y chromosome of men bearing a historical name, in order to identify their genetic origin. We sampled 29 Romanian men carrying the surname Basarab, in addition to four Romanian populations (from counties Dolj, N = 38; Mehedinti, N = 11; Cluj, N = 50; and Brasov, N = 50), and compared the data with the surrounding populations. We typed 131 SNPs and 19 STRs in the non-recombinant part of the Y-chromosome in all the individuals. We computed a PCA to situate the Basarab individuals in the context of Romania and its neighboring populations. Different Ychromosome haplogroups were found within the individuals bearing the Basarab name. All haplogroups are common in Romania and other Central and Eastern European populations. In a PCA, the Basarab group clusters within other Romanian populations. We found several clusters of Basarab individuals having a common ancestor within the period of the last 600 years. The diversity of haplogroups found shows that not all individuals carrying the surname Basarab can be direct biological descendants of the Basarab dynasty. The absence of Eastern Asian lineages in the Basarab men can be interpreted as a lack of evidence for a Cuman origin of the Basarab dynasty, although it cannot be positively ruled out. It can be therefore concluded that the Basarab dynasty was successful in spreading its name beyond the spread of its genes.

One of Denmark's earliest Christian cemeteries is Kongemarken, dating to around AD 1000 -1250. A feature of early Scandinavian Christian cemeteries is sex segregation, with females buried on the northern sides and males on the southern sides. However, such separation was never complete; in the few early Christian cemeteries excavated in Scandinavia, there were always a few males placed on the north side, and some females on the south side. At Kongemarken, several males with juxtaposed females were found on the north side of the cemetery. Thus, to evaluate possible kinship relationships, and more general questions of population affinity, we analyzed mitochondrial DNA extracted from nine individuals excavated in two different areas within the cemetery: one male and four females from Area 1, and one male and three females from Area 2. Using stringent laboratory protocols, each individual was unequivocally assigned to a mitochondrial haplogroup. A surprising amount of haplogroup diversity was observed (Area 1: 1 U7 (male), 1 H, 1 I, 1 J, and 1 T2; Area 2: 2 H, 1 I, and 1 T, with one H being male); even the three subjects of haplogroup H were of different subtypes. This indicates that no subjects within each area were maternally related. The observed haplogroup, U7, while common in India and in western Siberian tribes, was not previously observed among present-day ethnic Scandinavians, and haplogroup I is rare (2%) in Scandinavia. These observations suggest that the individuals living in the Roskilde region 1,000 years ago were not all members of a tightly knit local population and comprised individuals with genetic links with populations that were from much farther away. Am J Phys Anthropol 128: 424 -429, 2005.

Haplogroup J1 may be one of the most interesting genetic markers regarding human history. It’s highly represented in many places associated with the first civilizations (Levant, Mesopotamia and Egypt).


The Afroasiatic language family (including Semitic and Egyptian) has a strong correlation with haplogroup J1 (J1-M267). This haplogroup did not only spread Afroasiatic languages, but also mobile pastoralism in the arid zones. Since semi-nomadic pastoralists and farmers have very different temperaments and are unlikely to switch their modes of subsistence (pastoralists consider farming lowly work and farmers are typically sedentary), there is a good chance that the Afroasiatic founder population was a population of mobile herders and if the Nostratic hypothesis is true that its parent clade represented the origin of pastoralism and potentially also the Nostratic languages.
In Ancestral Journeys: (2013) Jean Manco writes:
The long and convoluted story of J1 is gradually becoming clearer. Today the greatest density of J1 centres on the southern Levant, if all its subclades are included. Without subclades the parent J1* clusters most strongly in the Zagros/Taurus mountain region, the cradle of the Neolithic.  J1 may have spread from there with farming. So far it has not been found in the early farmers of Europe, but it appears in the Caucasus today with non-Afro-Asiatic languages. The association with the Semitic languages seems to begin within the large subclade J1b2 (P58). J1b2 is found in nearly half the men who report themselves members of the hereditary Jewish priesthood (Cohanim). It also has a strong presence in Palestine and Jordan. The highest diversity of J1b2 (P58) is found in the Zagros/Taurus region. High diversity provides a clue to origin. So men carrying haplogroup J1b2 (P58) may have helped to take pastoralism into the Levant.  Proto-Semitic probably arose in the Copper Age. So it may turn out that J1b2 (P58) pre-dates Proto-Semitic by millennia. A rare form of J1b2 with the marker M368 has been reported among the Avars in Dagestan in the northeast Caucasus, where a completely different language is spoken. The subclade J1b2b (L147) appears much larger and promises to contain many men whose ancestors spoke a Semitic language in the Copper Age.
If J1 really originated in the Zagros mountains, then it is most likely associated with the origins of pastoralism, which is assumed to have started exactly there, in Western Iran. As its sibling clade J2 is more associated with farmers, it wouldn’t be odd to call them Cain (J2, farmer) and Abel (J1, herder).

This article aims at reconstructing the history of R1b ancient migrations between 16,000 and 1500 years before present (ybp). Four thousand four hundred eight (4408) haplotypes of haplogroup R1b (with subclades) were considered in terms of base (ancestral) haplotypes of R1b populations and the calculated time to their common ancestors. The regions considered are from South Siberia/Central Asia in the east (where R1b haplogroup arose ~16,000 ybp) via the North Kazakhstan, South Ural to the Russian Plain and further west to Europe (the northern route entering Europe around 4500 ybp); from the Russian Plain south to the Caucasus (6000 ybp), Asia Minor (6000 ybp) and the Middle East (6000 -5500 ybp) to the Balkans in Europe (the southern route, entering Europe around 4500 ybp); along North Africa and the Mediterranean Sea (5500 -5000 ybp) via Egypt to the Atlantic, north to Iberia (the North African route with arrival to the Pyrenees 4800 ybp). The Arbins (bearers of R1b haplogroup) along their migration route to the Middle East and South Mesopotamia apparently have established the Sumer culture (and the state), moving westward to Europe (5000 -4500 ybp) carrying mainly the R-M269 subclade and its downstream L23 subclade. This last subclade was nearly absent along the North African route, and/or did not survive the migration to Iberia or evidenced later. At the arrival to Iberia (4800 ybp) the M269 subclade split off M51 and soon thereafter the L11 downstream subclades. These populations became known as the Bell Beakers and moved north, along with the newly arisen subclades of P312 and L21 (which split off within a few centuries after P312). Those subclades and their downstream clades have effectively, without major interruptions, populated Europe (the smooth haplotype trees demonstrate the near non-stop proliferation of R1b haplotypes in Europe). They are evidenced from the Atlantic eastward to the Balkans, Carpathian Mountains, present day Poland to the western border of the Russian Plain and up to the Baltic Sea. The Isles had a different history of R1b migrations. The bearers of L11, P312 and L21 moved to the Isles by land and sea concurrently with those Arbins who were populating Europe between 4000 and 2500 ybp and formed the respective "local" subclades of P314, M222, L226, which largely populated the Isles. As a result, a significant part of the Isles is populated almost exclusively by the Arbins, whose frequency reaches 85% -95% among the current population. In general, the frequency of Arbins in Western and Central Europe, reaches-albeit not uniformly-some 60% of the population. This study essentially presents an example of application of DNA genealogy in studying the history of mankind.

This article contains the answer to a dilemma: the rooting and spread of SARS-CoV-2 in Western Europe thanks to Y DNA haplogroup R1b.

As the COVID-19 epidemic swept northern Italy, Spain, and western Europe the author suspects that there might be an association between the human haplogroups in those areas and its spread. He lays out that hypothesis in this paper. In short, if he is correct, the high incidence of the R1b haplogroup in these areas helps to explain COVID-19's virulent growth. He first contrasts this situation to Greece and southern Italy where haplogroups of Near Eastern and North African origin are much less susceptible and where COVID-19 has been much slower to gain traction and then looks briefly at other regions and haplogroups

Hearing loss is the most common sensory disorder and is genetically heterogeneous. Apart from nuclear gene mutations, a number of inherited mitochondrial mutations have also been implicated. The m.1555A>G mutation in the mitochondrial MT-RNR1 gene is reported as the most common mutation causing nonsyndromic hearing loss in various ethnic populations. We report here for the first time the clinical, genetic and molecular characterisation of a single large five-generational Tamil-speaking South Indian family with maternally inherited nonsyndromic postlingual hearing loss. Molecular analysis led to identification of m.1555A>G in 28 maternal relatives with variable degree of phenotypic expression. The penetrance of hearing loss among the maternal relatives in this family was 55%. Sequence analysis of the complete mitochondrial genome in 36 members of this pedigree identified 25 known variants and one novel variant co-transmitted along with m.1555A>G mutation. The mtDNA haplotype analysis revealed that the maternal relatives carry the R * T 2 haplotype similar to Europeans and South Asians. Sequencing of the coding exon of GJB2 nuclear gene did not show any pathogenic mutations. The results suggest that other nuclear or environmental modifying factors could have played a role in the differential expression of mutation m.1555A>G in postlingual hearing loss in this family.

We present a method to distinguish authentic ancient DNA from contaminating DNA in a human bone. This is achieved by taking account of the spatial distribution of the various sequence families within the bone and the extent of degradation of the template DNAs, as revealed by the error content of the sequences. To demonstrate the veracity of the method, we handled two ancient human tibiae in order to contaminate them with modern DNA, and then subjected segments of the bones to various decontaminating treatments, including removal of the outer 1–2 mm, before extracting DNA, cloning, and obtaining a total of 107 mitochondrial DNA sequences. Sequences resulting from the deliberate contamination were located exclusively in the outer 1–2 mm of the bones, and only one of these 27 sequences contained an error that could be ascribed to DNA degradation. A second, much smaller set of relatively error-free sequences, which we ascribe to contamination during excavation or curation, was also located exclusively in the outer 1–2 mm. In contrast, a family of 72 sequences, displaying extensive degradation products but identifiable as haplogroup U5a1a, was distributed throughout one of the bones and represents the authentic ancient DNA content of this specimen. Am J Phys Anthropol, 2006. © 2006 Wiley-Liss, Inc.

Mitochondrial DNA (mtDNA) variation was investigated in a sample of 299 Latvians, a Baltic-speaking population from Eastern Europe. Sequencing of the first hypervariable segment (HVS-I) in combination with analysis of informative coding region markers revealed that the vast majority of observed mtDNAs belong to haplogroups (hgs) common to most European populations. Analysis of the spatial distribution of mtDNA haplotypes found in Latvians, as well as in Baltic-speaking populations in general, revealed that they share haplotypes with all neighbouring populations irrespective of their linguistic affiliation. Hence, the results of our mtDNA analysis show that the previously described sharp difference between the Y-chromosomal hg N3 distribution in the paternally inherited gene pool of Baltic-speaking populations and of other European Indo-European speakers does not have a corresponding maternal counterpart.