Notes: The connection between Central Asia and/ Far East and Hungarian Magyar

Japanese mythology share a myth of the solar deer motif and more curiously, very similar story behind the deer or stag legend.

Fred Hamori in his The Legend of the Wondrous Stag” writes, “The symbol of the cosmos and the mother of the sun was symbolized as a large horned female doe. The great horned doe often was shown carrying the sun in her horns, in some cases the sun itself was symbolized as a stag the son of the doe of the legend. The following Christmas song told by the Hungarian regos (bards) illustrate the stag as the carrier of the sun.”

Nimrud was the great legendary ruler of ancient Mesopotamia. One day, his two sons, Hunor and Magor went hunting. They saw a great white stag which they pursued. The stag continuously eluded them and led them to a beautiful and bountiful land. This vast land was Scythia, where Hunor and Magor eventually settled with their people.

The descendants of Hunor’s people were the Huns, and the descendants of Magor’s people were the Magyars. As they grew in strength and numbers, first the Huns, and then the Magyars went on to conquer new lands.
Genetics established an ancient prehistoric East Asian or Northeast Asian connection and affinity between the Koros Culture and Japanese and Korean peoples, via the N9a haplogroup. The shared mythology of Maeotis and N9a suggest a possible common origin. While Maeotis is frequently connected with the Sea of Azov in the modern River Don in southern Russia, and thought to be the homeland of Scythians, given the common connection, it may have been a staging land during the journey of migrants from further east, for there is also a Maeoto island on the coast of Japan and a deer deity which is the ancestral deity of a famous and prominent Japanese clan.

According to the Byzantine historian, Procopius: The nation of the Utigurs and Kutigur Huns originate from the twin sons of a Hun king. The twins separated from their father during the hunting of the Stag. These Huns also had two princes called Mauger and Gorda (Magyar and Hunugur?) who ruled after the death of their father. It is quite possible that these were also related to the Magyars and ruled over them, since the Mauger name of the “Hun” prince could have been derived from the people/nation which he ruled, the Magyars. There is a remnant of a Hun painting from Mongolia and stone carving from a column representing the heavenly stag.

Another descendant of the Huns are the Uygur (Yugor, Ugor) of eastern China which even in their name appears to be related to the Hungarians. In their legend a once great emperor had two sons called Tartar (Hunor) and Mungli (Maugor) who became the ancestor of the Tartars and the Mongols. [Abul Ghazi Bahadur, a 17 century historian of Khiva] This recalls the close association that the Caucasian Ujgurs had with the Mongol royal family and is tied to a later historical event, rather than to the original ancient legend of origin.

In the Japanese version, the tale we are left with is much truncated without any embellishments, but it is still a tale of origins and migration. The twin brothers chase the stag. They get into an argument, probably about which way the stag disappeared, and one brother goes east and finds Japan, while the other goes west. The deer deity is associated not only with royal genealogy in Japan but also with the Kashima shrine.

The Kasuga Deer Mandala tells the story that The “Great God of Kashima” rode on a white deer from Kashima all the way to the Kasuga shrine in Nara as a divine messenger, and the deer became the symbol of Nara. Takemikazuchi no mikoto (武甕槌大神) or Kashima Daijin (鹿島大神) “Great God at Kashima” a patron of the martial arts. In the precincts there is a famous training hall (doojoo) for martial arts, especially sword fighting (kendoo 剣道). The Saito Sai festival (held on Mar 9) dates back more than 1200 years to the Nara Period (710 to 794). Soldiers called sakimori 防人 were sent off to do duty in far-away Kyushu. Before leaving, they gathered at Kashima Jingu to offer prayers for victory in battle and a safe journey. Many people paraded through the streets to see them off and wish them well. Lately this has become a wild parade through the city. The Songs of The Sakimori – SAKIMORI NO UTA
made their way into the Manyoshu.

霰降り鹿島の神を祈りつつ
皇御軍士に我は来にしを

arare furi Kashima no kami o inoritsutsu
suberamikusa ni ware wa ki ni shi o

I have come, as a warrior for the Emperor,
to pray before the God of Kashima

The deer stag myth of the Ural Maeotis (and Hungarian myth) is also found in the royal genealogy and particularly associated with the most ancient of shrines in Kashima and where Maeotis appears transformed as Meoto. The Hungarian legend itself attributes the origin of the myth as from a far “distant land in Asia” “bordered by tall mountains in the north and a great southern sea” and the landscape of flat lowlands (which seems to match Kashima in Ibaragi landscape).

“A long time ago, thousands of years ago, in a distant land in Asia there was once a great and powerful kingdom. It was bordered by tall mountains in the north and a great southern sea in the south. From the mountains, two mighty rivers flowed southwards to the sea watering the flat lowlands. The people who lived there were famous for their arts, sciences and wisdom. They lived in abundance and plenty.

It was following the great flood that the people from the northern mountains settled here and founded a new land. The king of the land was the giant hunter Nimrod, the descendant of the great king Etana. (Tana in Hungarian, Kus-Tana in Kushan-Scythian, or Etana in Sumerian, the king who lived in the 3 rd millenium B.C. and according to the legend of Gilgamesh he established the city of Kish and the first Messopotamian empire, following the flood) Nimrod founded great buildings and cities and founded the great pyramid of the city of Babilon 201 years after the flood as a haven against future flooding (Simon Kezai, Gesta Hungarorum, ca 1282) and as a temple to god.

Nimrod was a mighty warrior king who also expanded his empire to include much of the northern and eastern territories and he and his people moved there, to the land of Evilath, following the confusion of languages. (Simon Kezai, Gesta Hungarorum, ca 1282) (according to Berrosus the Babilonian historian, Belas [Bel Nimrud] ruled for 56 years 130 years following the flood, and built the tower of Babel in the land of Sinear to the height of a mountain.) This land was latter called east Persia, and lay next to Northern India.

Here he married his first wife Eneth and she later bore him two twin sons called Hunor and Magor. He later had other wives and from them were born other sons and daughters who became the ancestors of the Parthians/?/Persians. (In the medieval version it was the Persians, the inheritors of the land of Iran, that are mentioned instead of the aboriginal Scythic Parthians. In other medieval references though it is the Parthians which are mentioned as being related.) The language of these people was similar to the Hungarians but not quite the same.

His first born sons were his pride and they spent much time with their father, growing up in the palace and later they accompanied him on his many hunts. Nimrod was a famous and great hunter who loved the sport.@foot(Bible, “like Nimrod, mighty hunter before the lord”) During one of his hunting expeditions he took his sons with him. During the hunt he spotted some game and separated from his sons to pursue it. The two young men continued their own search and came across a wonderous beast, a great horned doe, which shone in multicolor lights and it’s antlers glittering from light. (Mahmud Terdjuman, Tarihi Ungurus “The history of the Hungarians”, 1456 translated by Joseph Blaskovich, Prage, 1982)

Enchanted by the heavenly beast they gave chase to it. The animal lead them across glades and medows onward toward the west. At dusk the beast vanished so the two princes and their men camped for the night. At dawn the hind reappeared and the chase continued afresh. It lead them through foreign lands and across the mountains of Adjem (western Iran), through wild and dangerous swamps of Meotis (The Sea of Azov, an inlet of the Black Sea, was associated with Meotis because of the common ancient name of this sea and because the Magyars and Huns lived there before their settling in Hungary. It is unlikely however that this was the original sea of the ancient legend) until they entered a beautiful bountiful country. Here the hind lead them to a lake and jumped into it and disappeared. This swampy land, called Meotis, is surounded by the sea on all sides except one where a shallow swampy land connects it to the mainland making it difficult to enter. It is rich in birds, fish and game and is situated on the borders of Persia.

The two young men were filled with sadness and remorse because of the loss of the hind. They returned to their father and asked him to build for them a temple at the sight where they could retreat and contemplate and prepare themselves. They then lived in the temple for 5 years, and on the 6th year they were longing to return to the world when a great teacher came to them and thought them the ways of being a great king. (Terdjuman Mahmud, Tarihi Ungurus, 1456)

They and their men then left the temple and scouted the nearby territories. In the evening they camped and in the morning they awoke to the sound of music. They followed the source of the music to a clearing in the forrest where they spied the dancing and singing of young maidens who were celebrating the festival of the horn. The name of a hind is “horned” in Hungarian and this celebration was of the hind. The maidens in the clearing were the daughters of the Bulars and amongst them were the two beautiful daughters of the king, Dula. (Simon Kezai, Gesta Hungarorum, ca1282) (The persian version only has one prince, who similarly marries the queen of the women, who calles her self a doe with the name “sar-istani” Sraw=horned in Avesta.)

The two young men were so enchanted by the two princesses that they resolved to marry them, so they and their men kidnapped all the women and married them according to their custom. They settled on a great island in the lake, which was well protected. Their descendants multiplied and populated the nearby lands, founding the 108 clans of the Scythian nation. (108 was a “holy number” related to the astronomical rate of precession of the equinoxes. Its also a holy number among Buddhists and the Buddha himself was of the Scythian Sakia tribe.) The descendants of Hunor and one of the princesses became the nation of the Huns, while the descendants of Magor and the other princess became the nation of the Magyars.

The land of the Scythians stretched from north of the Black Sea to Central Asia as far as the city of Samarkand. Their country bordered the country of their father on the north and east. However a long time after the death of their father the kingdom of Nimrod fell to a foreign ruler from the west. This nation in later ages became Persia. (around 500BC) (See the Iranian legends of the struggles between Iran and Turan)”

(Source: The Legend of the Hind).

Given the strong shared shamanic symbolism of the deer as goddess deity for Siberia Altaic-Turkic, Palaeosiberian and Mongolic peoples, the origin very likely lies with one of the pastoral deer-raising people in Siberia who also reached and populated Japan in very early prehistoric times, see The Deer Goddess of Ancient Siberia: A Study in the Ecology of Belief by Esther Jacobson 

See the study by Miroslava Derenko Complete Mitochondrial DNA Analysis of Eastern Eurasian Haplogroups Rarely Found in Populations of Northern Asia and Eastern Europe

“haplogroup N9a is rarely found in the Volga-Ural region Tatars (~1%) and Bashkirs (1.5%) as well as in some eastern Europeans, like Russians from southwestern Russia (1.5%) and Czechs (0.6%) [37][40].”

“Haplogroup N9a is characteristic of eastern Asian populations, where it is detected at a highest frequencies in Japan (4.6%), China (2.8%), Mongolia (2.1%) and Korea (3.9%) [8], [21], [32],[34]. Haplogroup N9a is rare in Taiwan (1.2%) and Island southeastern Asia (1.1%) [22], [30], but appears at greater frequencies in Mainland southeastern Asia (1.5–4.5%) [24], [33]. With the comparable frequencies this haplogroup is detected in several populations of northern (0.9%–4.6%) and central Asia (1.2–2.5%), but it is virtually absent in western and southern Asia [8], [32], [35], [36]. Interestingly, haplogroup N9a is rarely found in the Volga-Ural region Tatars (~1%) and Bashkirs (1.5%) as well as in some eastern Europeans, like Russians from southwestern Russia (1.5%) and Czechs (0.6%) [37][40].

In the current study we have reconstructed the phylogeny of haplogroup N9a based on 59 complete mtDNA genomes including ten newly sequenced samples and revised the classification of this haplogroup that was defined earlier as having seven main branches – N9a1’3; N9a2’4’5; N9a6–N9a10 [18]. Information from complete mtDNA sequencing reveals that Buryat sample (Br_623) and previously published Japanese sample (HNsq0240) from Tanaka et al. [21] share mutations at nps 11368 and 15090 and therefore belong to a rare N9a8 haplogroup (Figure S3). It should be noted that these two sequences showed deep divergence with each other being characterized by unique sets of seven and six mutations respectively. As follows from phylogenetic analysis data, our Barghut sample (Bt_81) shares transversions at nps 4668 and 5553 with two published Japanese samples [21] and therefore can be ascribed to a previously reported subcluster N9a2a3, Tatar sample (Tat_411G) which is identical to Japanese sample KAsq0018 [21] is a part of N9a2a2, Khamnigan (Khm_36) and Korean (Kor_87) mtDNAs belong to N9a1, whereas Korean (Kor_92) and Buryat (Br_433) variants can be identified as members of N9a3. Interestingly, Russian (Rus_BGII-19) and Czech (CZ_V-44) samples bearing transitions at nps 4913 and 12636 apparently belongs to a new subbranch N9a3a within haplogroup N9a3. Despite the low coalescence time estimates obtained for N9a3a (~1.3–2.3 kya) it is quite probable that its founder had been introduced into eastern Europe much earlier taking into account the age of a whole N9a3 estimated as 8–13 kya and the discovery of a N9a haplotypes in a Neolithic skeletons from several sites, located in Hungary and belonged to the Körös Culture and Alföld Linear Pottery Culture, which appeared in eastern Hungary in the early 8th millennium B.P. [41], [42].

Read also Zhu’s hypothesis that the Hungarian immigrants who arrived in present-day Hungary, were a blend of Mogher, proto- or Mongolic-speaking tribe, joined by Turkic-speaking tribes on the way to the Hungarian homeland.

The Far-East Ancestors of the Magyars : A Historical and Linguistic Excavation

By James Xueyuan Zhu

International Journal of Central Asian Studies, Volume 4 (1999)

Introduction: The Hungarians call themselves Magyar, a word that also designates their language. The origins of the Magyars as a people and language have long baffled historians, anthropologists and linguists. Though Magyars have inhabited central Europe surrounded by Indo-Europeans for over a millennium, the Magyar language curiously resembles languages of northern Asian in its crucial featureswords, syntactic structures, and speech rhythms. It employs a form of address that puts family name first and titles last, a typically Asian word order absent elsewhere in Europe. Thus János, whose family name is Arany, is addressed “Arany János úr (Mr.)” and not “Ur János Arany”. The Magyars are recognized to have migrated from the East, but the location of their ancestral homes, their ethnic makeup, the precise time of, and reasons for their westward movement are all unknown.

A Tartar (Jurchen) Huntsmen on His Horse, 15th century, ink and color painting on silk (source: Wikimedia Commons)

A Tartar (Jurchen) Huntsmen on His Horse, 15th century, ink and color painting on silk (source: Wikimedia Commons)

The Jurchen people (Wikipedia)

The Jurchens or Jurcheds[3] (Jurchen language: Jurchen.png jušen) were a Tungusic people who inhabited the region of Manchuria (present-day Northeast China) until the 17th century, when they adopted the name Manchu. For a long period of time, it inhabited the areas north and south of the Sunggari or Songhua River(Chinese:松花江) and around the Heilong River. The form Jurchen dates back to at least the beginning of the tenth century AD, when the Balhae kingdom was destroyed by the Khitans. However, cognate ethnonyms like Sushen or Jichen (稷真) have been recorded in pre-Christian Era geographical works like the Shan Hai Jing and Book of Wei. It comes from the Jurchen word jušen, the original meaning of which is unclear. The standard English version of the name, “Jurchen,” is an Anglicized transliteration of the Mongolian equivalent of the Jurchen term jušen (Mongolian: Jürchin, plural is Jürchid), and may have arrived in the West via Mongolian texts

They established the Jin Dynasty (1115–1234) (Ancun gurun in ancient Jurchen and Aisin gurun in Standard Manchu) between 1115 and 1122, which lasted until 1234 with the arrival of the Mongols. In 1127 the Jurchens during the Jin–Song wars conquered the Northern Song and gained control of most of northern China, where they migrated and adopted the practices of the local Confucian culture.

Among the ancestor tribes of the Jurchens were the Heishui Mohe tribes, which were among the various Mohe tribes living along the Amur River(Black Water).[12] The Jurchens generally lived by traditions that reflected the hunting-gathering culture of Siberian-Manchurian tundra and coastal peoples. Like the Khitans and Mongols, they took pride in feats of strength, horsemanship, archery, and hunting. They engaged in shamanic rituals and believed in a supreme sky goddess (abka hehe, literally sky woman). In the Qing dynasty, bowing to Confucian pressure, this reverence for a female sky deity was switched to a male, sky father, Abka Enduri (abka-i enduri, abka-i han).[13] After conquering China, during the Jin Dynasty, Buddhismbecame the prevalent religion of the Jurchens, and Daoism was assimilated as well.[14]

In 1126 the Jurchen initially ordered male Han within their conquered territories to adopt Jurchen hairstyle by shaving the front of their heads and adopting Jurchen dress, but the order was lifted.[15] Jurchen were impersonated by Han rebels who wore their hair in the Jurchen “pigtail” to strike fear within their population.[16] The later Manchus (who were also Jurchens) similarly made Han men shave the front of heads and adopt the queue(ponytail), or soncoho (Chinese: 辮子 biànzi), the traditional Manchurian hairstyle.

Jurchen society was in some ways similar to that of the Mongols. Both Mongols and Jurchens used the title Khan for the leaders of a political entity, whether “emperor” or “chief”. A particularly powerful chief was called beile (“prince, nobleman”), corresponding with the Mongolian beki and Turkishbeg or bey. Also like the Mongols and the Turks, the Jurchens did not observe a law of primogeniture. According to tradition, any capable son or nephew could be chosen to become leader.

The 11th century Jurchen tribes of northern Manchuria descended from the Tungusic Mohe, or Malgal tribes who were subjects of the ethnic-Goguryeo state of Balhae. The Mohe enjoyed eating pork, practiced pig farming extensively, and were mainly sedentary,[8] and also used both pig and dog skins for coats. They were predominantly farmers and grew soybean, wheat, millet, and rice, in addition to engaging in hunting.[9] By the 11th century, the Jurchens had become vassals of the Khitans (see also Liao Dynasty).

They rose to power after their leader Wanyan Aguda unified them in 1115, declared himself Emperor, and in 1120 seized Shangjing (上京), also known as Linhuangfu (Traditional Chinese: 临潢府), the Northern Capital of Liao.[10] During the Jin–Song Wars, the Jurchens invaded territories under the Han Chinese Northern Song Dynasty and overran most of northern China, first setting up puppet regimes like Qi and Chu, later directly ruling as a dynastic state in Northern China named Jin (“Gold”, not to be confused with the several Jin Dynasties named after the region around Shanxi and Henan). Jin captured the Song capital of Kaifeng in 1127. Their armies pushed all the way south to the Yangtze, but through continued warfare and treaties of diplomacy this boundary with the Han Chinese Southern Song Dynasty was eventually stabilised along the Huai River. The Jurchens extorted gifts and rewards from the Korean Kingdom Goryeo by militarily threatening them.[11]

The Jurchen named their Dynasty the Jin (“Golden”) after the Anchuhu River (anchuhu is the Jurchen equivalent of Manchu aisin “gold, golden”) in their homeland.

Until recently, it was uncertain what kind of burial rites existed among the Jurchens. In July 2012 Russian archaeologists discovered a Jurchen burial ground in Partizansky District of Primorye (Primorsky Territory) in Russia. Fifteen graves dating to the 12th or 13th centuries were found, consisting of the grave of a chieftain placed in the centre, with the graves of 14 servants nearby. All the graves contained pots with ashes, prompting the scientists to conclude that the Jurchens cremated the corpses of their dead. The grave of the chieftain also contained a quiver with arrows and a bent sword. The archaeologists propose that the sword was purposely bent, to signify that the owner would no longer need it in earthly life. The researchers planned to return to Primorye to establish whether this was a singular burial or a part of the larger burial ground (Source: “A Large Burial Ground of the Jurchen People Has Been Found In Russia’s Primorye :: Russia-InfoCentre”. Russia-ic.com. 2012-07-27. Retrieved 17 August 2012)

Stone tortoise from the grave of a 12th-century Jurchen leader in today’sUssuriysk

The Jurchens were sedentary,[18][19] settled farmers with advanced agriculture. They farmed grain and millet as their cereal crops, grew flax and raised oxen, pigs, sheep, and horses.[20] Their farming way of life was very different from the pastoral nomadism of the Mongols and the Khitan on the steppes.[21][22] “At the most”, the Jurchen could only be described as “semi-nomadic” while the majority of them were sedentary.[11]

Although their Mohe ancestors did not respect dogs, the Jurchen began to respect dogs around the time of the Ming dynasty and passed this tradition on to the Manchu, it was prohibited in Jurchen culture to use dog skin, and forbidden for Jurchens to harm, kill, and eat dogs, the Jurchens believed that the “utmost evil” was the usage of dog skin by Koreans.[23]

The Jurchen leader Nurhaci chose to variously emphasize either differences or similarities in lifestyles with other peoples like the Mongols for political reasons.[24] Nurhaci said to the Mongols that “The languages of the Chinese and Koreans are different, but their clothing and way of life is the same. It is the same with us Manchus (Jušen) and Mongols. Our languages are different, but our clothing and way of life is the same.” Later Nurhaci indicated that the bond with the Mongols was not based in any real shared culture, rather it was for pragmatic reasons of “mutual opportunism”, when he said to the Mongols: “You Mongols raise livestock, eat meat and wear pelts. My people till the fields and live on grain. We two are not one country and we have different languages.”[25]

Among the ancestor tribes of the Jurchens were the Heishui Mohe tribes, which were among the various Mohe tribes living along the Amur River(Black Water).[12] The Jurchens generally lived by traditions that reflected the hunting-gathering culture of Siberian-Manchurian tundra and coastal peoples. Like the Khitans and Mongols, they took pride in feats of strength, horsemanship, archery, and hunting. They engaged in shamanic rituals and believed in a supreme sky goddess (abka hehe, literally heaven mother). In the Qing dynasty, bowing to Confucian pressure, this reverence for a female sky deity was switched to a male, sky father, Abka Enduri (abka-i enduri, abka-i han).[13] After conquering China, during the Jin Dynasty, Buddhism became the prevalent religion of the Jurchens, and Daoism was assimilated as well.

There is an ancient substrate of Tungusic-Moge/Jurchen ancestry in the Japanese population as well which is not surprising given the proximity of the Northeast Asian Jurchens to northern Japan. They share the early solar or heaven goddess (abka hehe vs. Amaterasu vs abka hehe)

A Large Burial Ground of the Jurchen People Has Been Found In Russia’s Primorye

Russian archaeologists have found the burial site of the Jurchen people in Primorsky Territory.

The Jurchens were a Tungusic people that inhabited the present-day northwest China, then known as Manchuria, until the 17th c. when they adopted the name of Manchu. They were breeding the cattle, traded with China and Japan and even had a unique language that survived in its spoken form.

The traces of their living sites have previously been found by archaeologists. It was established, for instance, that the Jurchen were Buddhist, but never before did the scientists come across the Jurchen burial ground.

The burial ground consisting of 15 graves was found this week in Partizansky Region of Primorye. It dates back to 12-13 c. and consists of a chieftain’s grave placed in the centre, with 14 servants’ graves nearby. All graves contained pots with ashes, prompting the scentists to conclude that the Jurchens cremated the dead people’s corpses.

The chieftain’s grave also contained a quiver with arrows and a bent sword. The archaeologists propose that the sword was purposely bent, to signify that the owner would no longer need it in earthly life. The proposition is based on the fact that swords were usually inherited by successors; in the case with Partizansky burial ground, the chieftain may have been a significant figure, thus his sword accompanied him on his last journey.

The archaeologists plan to return to Primorye in 2013 when they will attempt to establish, if this was a singular burial ground, or if it was a part of a larger burial site. The scientists underline the fact that among many Jurchen living sites this was the first real burial ground, which makes it a special highlight of the Russian archaeological season.
Sources: http://www.ria.ru http://en.wikipedia.org

Author: Julia Shuvalova – See more at: http://russia-ic.com/news/show/14426/#.VGrX3PmsV1Y

From Hungarian genetics:

The Hungarian self-designation is Magyar. The early Magyars arrived in the land of Hungary from the east in the 9th century. At one time they were in alliance with the Khazars.

The original Magyar genetic contributions have become very diluted over the centuries due in large part to intermarriage with European tribes. This means that the modern Hungarian people are only somewhat descended from the ancient Magyars whose language they speak.

Y-DNA haplogroup frequencies differ markedly between regions of Hungary, so I can’t really give a detailed summary that applies to all Hungarians, except to say that many Hungarians belong to haplogroups in the R1a family that’s associated with the early Indo-Europeans and their other Y-DNA haplogroups are also found among their neighbors the Austrians and Slovaks.

There are some Hungarian villages where the inhabitants possess small frequencies of Y-DNA haplogroups from Central Asia and Northern Asia such as those in the N, Q, and C families.

SNP deep ancestry tests on the people of Hungary calculated that in terms of regional origins their ancestral components are 83.1 percent Atlantic-European, 10.2 percent Baltic-Urals, 2.3 percent Caucasus-Anatolian, 1 percent Arabian, 3.1 percent Pakistani-Indus, and 0.3 percent other (see “Genetic Links between Three SNP Based Regions in Europe”, August 1, 2011).

Major studies of Hungarians

A. Z. Bíró, A. Zalán, A. Völgyi, and H. Pamjav. “A Y-chromosomal comparison of the Madjars (Kazakhstan) and the Magyars (Hungary).” American Journal of Physical Anthropology 139:3 (July 2009): pages 305-310. Some of the lineages within Y-DNA haplogroup G are shared between the Madjar people of Kazakhstan and the Magyar people of Hungary. (Mirror) Abstract:

“The Madjars are a previously unstudied population from Kazakhstan who practice a form of local exogamy in which wives are brought in from neighboring tribes, but husbands are not, so the paternal lineages remain genetically isolated within the population. Their name bears a striking resemblance to the Magyars who have inhabited Hungary for over a millennium, but whose previous history is poorly understood. We have now carried out a genetic analysis of the population structure and relationships of the Madjars, and in particular have sought to test whether or not they show a genetic link with the Magyars. We concentrated on paternal lineages because of their isolation within the Madjars and sampled males representing all extant male lineages unrelated for more than eight generations (n = 45) in the Torgay area of Kazakhstan. The Madjars show evidence of extensive genetic drift, with 24/45 carrying the same 12-STR haplotype within haplogroup G. Genetic distances based on haplogroup frequencies were used to compare the Madjars with 37 other populations and showed that they were closest to the Hungarian population rather than their geographical neighbors. Although this finding could result from chance, it is striking and suggests that there could have been genetic contact between the ancestors of the Madjars and Magyars, and thus that modern Hungarians may trace their ancestry to Central Asia, instead of the Eastern Uralic region as previously thought.”

B. Csányi, E. Bogácsi-Szabó, Gy. Tömöry, Á. Czibula, K. Priskin, A. CsŐsz, B. Mende, P. Langó, K. Csete, A. Zsolnai, E. K. Conant, C. S. Downes, and I. Raskó. “Y-Chromosome Analysis of Ancient Hungarian and Two Modern Hungarian-Speaking Populations from the Carpathian Basin.” Annals of Human Genetics 72:4 (July 2008): pages 519-534. 100 Hungarian people from Hungary and 97 Hungarian-speaking Szekler people from Transylvania in present-day Romania were genetically tested. DNA was also successfully sampled from the skeletons of 4 Hungarians who lived in the 10th century. Two of the skeletons that were anthropologically Caucasoid-Mongoloid hybrids carried the Y-DNA haplogroup N3 (later ramed N1c) while one of them carried the Caucasoid mtDNA haplogroup H. This, along with the evidence from modern-day Hungarians, shows that the Magyar invaders had intermarried with local European tribes, greatly watering down Mongoloid genetic and physical traits among those who continued to speak the Hungarian language. Summary:

“The Hungarian population belongs linguistically to the Finno-Ugric branch of the Uralic family. The Tat C allele is an interesting marker in the Finno-Ugric context, distributed in all the Finno-Ugric-speaking populations, except for Hungarians. This question arises whether the ancestral Hungarians, who settled in the Carpathian Basin, harbored this polymorphism or not. 100 men from modern Hungary, 97 Szeklers (a Hungarian-speaking population from Transylvania), and 4 archaeologically Hungarian bone samples from the 10th century were studied for this polymorphism. Among the modern individuals, only one Szekler carries the Tat C allele, whereas out of the four skeletal remains, two possess the allele. The latter finding, even allowing for the low sample number, appears to indicate a Siberian lineage of the invading Hungarians, which later has largely disappeared. The two modern Hungarian-speaking populations, based on 22 Y-chromosomal binary markers, share similar components described for other Europeans, except for the presence of the haplogroup P*(xM173) in Szekler samples, which may reflect a Central Asian connection, and high frequency of haplogroup J in both Szeklers and Hungarians. MDS analysis based on haplogroup frequency values, confirms that modern Hungarian and Szekler populations are genetically closely related, and similar to populations from Central Europe and the Balkans.”

Excerpts from the middle of the text:

“The R1a1-M17 frequency in Hungarians (30%) and Szeklers (18.6%) is comparable to that in their neighbours (e.g. Czechs and Slovaks, mainland Croatians, Bosnians, Romanians, Serbians) and some other Uralic-speaking populations (e.g. Estonian, Komis, Mordvin)… Similar frequencies of R1b as in the Hungarian speakers are found in some Slavic populations (mainland Croatians, Slovenians, Poles, Bulgarians); and in some Uralic-speakers (Komis, Khanties, Mordvin) as well as in Romanian and Turkish populations… The presence of central-Asian haplogroup P*(xM173) in Szeklers is unusual for a European population, since it is almost absent in continental Europe… and presumably reflects some Asian contribution, before or after reaching Transylvania. Hg I-M170 is the only Y-chromosome haplogroup that is confined almost exclusively to the European continent… Haplogroup I was detected with almost equal frequency in the two modern populations: 24% in Hungarians and 21.7% in Szeklers. However, two of its major subclades- I1a-M253 and I1b*(xM26) – show an opposite occurrence in the two ethnic groups, 8% and 13%, respectively, in Hungarians, and 16.5% and 5.2% in Szeklers. These are within the range of normal central and eastern European values… The elevated frequency of Hg I1a together with higher frequency of R1b-M269 in Szekler population might be the consequence, at least in part, of the genetic impact of people of German origin, who settled in Transylvania from the 12th century onwards (Transylvanian Saxons)… In the present study haplogroup J was unexpectedly common in the Hungarian-speaking populations (Hungarians: 16%, Szeklers: 21.6%). Haplogroup J… is considered to have originated in the Middle East… The J1-M267 Y-chromosomal lineage is notably frequent in Szeklers (10.3%; a value far above the range for other central and eastern European populations…, while its frequency in Hungarians (3.0%) is unremarkable. … Among these J2-M172 subclades, J2e1-M102 is more frequent in Szeklers (7.2%) than in Hungarians (4.0%), while the undifferentiated J2-M172* Y chromosomes are slightly more common in Hungarian population (8% vs. 3.1%). Both J2f*-M67 and J2f1-M92 lineages were detected in our study in one single individual, in each population. … Haplogroup E3b-M35 occurs at 10% frequency in Hungarians and 9.2% in Szeklers with E3b1-M78 chromosomes accounting for almost all representatives (∼90%). Hg E is mainly African, but its clade E3b-M35 has also been observed in Europe… Both E3b-M35 and its derivative (E3b1-M78) probably originated in eastern Africa…”

Conclusion:

“Our data suggest that the Tat C allele, which is widespread in Uralic-speaking populations, was substantially present in the ancient Magyar population when they crossed the Carpathians and settled in the Carpathian Basin. Our findings provide further evidence for its virtual absence in recent Hungarian-speaking populations, with the exception of a single male in the Szekler group. This contrast, despite the relative linguistic stability, may be attributed to a combination of the Magyars being a dominant elite, whose language was accepted by the more numerous pre-existing populations (mostly Slavs and Avars), and of the effects of a number of substantial post-Magyar immigrations and incursions. The Y-chromosomal patterns of the modern Hungarians and Szeklers can for the most part be adequately explained within the European paternal genetic landscape. As with other Europeans, the Y chromosomes are characterized by early lineages derived from Paleolithic inhabitants, and by a minor impact of Neolithic and post-Neolithic migratory episodes. Consistent with previous studies, Hungarian-speaking populations are genetically closely related to their geographic neighbours. The Hungarian and Szekler groups cluster together with some other central Europeans (e.g. Czechs and Slovaks), but mainly with Balkan populations. There are two exceptions. Haplogroup P*(xM173) is almost absent in continental Europe. The presence of this haplogroup in the Szeklers may indicate a connection with Central Asian populations. Also, there is an elevated haplogroup J frequency. This may reflect Anatolian and southern Balkan contributions to the gene pools of Hungarians and Szeklers, but historical data and the comparative analyses of maternal lineages of ancient Hungarian population suggest that the earlier migrations of the Magyars may also have contributed to the presence of this lineage in the Carpathian Basin.”

A. Völgyi, A. Zalán, E. Szvetnik, and H. Pamjav. “Hungarian population data for 11 Y-STR and 49 Y-SNP markers.” Forensic Science International: Genetics 3:2 (March 2009): pages e27-e28. Abstract:

“49 Y-chromosomal single nucleotide polymorphisms (SNPs) with TaqMan assay and 11 Y-chromosomal STR loci were tested in 215 independent Hungarian male samples. Genetic distances to 23 other populations were calculated based on haplogroup frequencies with AMOVA implemented in Arlequin2.0. Based on distances phylogenetic tree was constructed with Neighbor-joining method using Phylip 3.66. Haplotype and haplogroup diversity values were calculated.”

G. Tömöry, B. Csányi, E. Bogácsi-Szabó, T. Kalmár, A. Czibula, A. Csosz, K. Priskin, B. Mende, P. Langó, C. S. Downes, and I. Raskó. “Comparison of maternal lineage and biogeographic analyses of ancient and modern Hungarian populations.” American Journal of Physical Anthropology 134:3 (November 2007): pages 354-368. Abstract:

“The Hungarian language belongs to the Finno-Ugric branch of the Uralic family, but Hungarian speakers have been living in Central Europe for more than 1000 years, surrounded by speakers of unrelated Indo-European languages. In order to study the continuity in maternal lineage between ancient and modern Hungarian populations, polymorphisms in the HVSI and protein coding regions of mitochondrial DNA sequences of 27 ancient samples (10th-11th centuries), 101 modern Hungarian, and 76 modern Hungarian-speaking Sekler samples from Transylvania were analyzed. The data were compared with sequences derived from 57 European and Asian populations, including Finno-Ugric populations, and statistical analyses were performed to investigate their genetic relationships. Only 2 of 27 ancient Hungarian samples are unambiguously Asian: the rest belong to one of the western Eurasian haplogroups, but some Asian affinities, and the genetic effect of populations who came into contact with ancient Hungarians during their migrations are seen. Strong differences appear when the ancient Hungarian samples are analyzed according to apparent social status, as judged by grave goods. Commoners show a predominance of mtDNA haplotypes and haplogroups (H, R, T), common in west Eurasia, while high-status individuals, presumably conquering Hungarians, show a more heterogeneous haplogroup distribution, with haplogroups (N1a, X) which are present at very low frequencies in modern worldwide populations and are absent in recent Hungarian and Sekler populations. Modern Hungarian-speaking populations seem to be specifically European. Our findings demonstrate that significant genetic differences exist between the ancient and recent Hungarian-speaking populations, and no genetic continuity is seen.”

E. Nadasi, P. Gyurus, M. Czakó, J. Bene, S. Kosztolányi, S. Fazekas, P. Dömösi, and B. Melegh. “Comparison of mtdna haplogroups in Hungarians with four other European populations: a small incidence of descents with Asian origin.” Acta Biologica Hungarica 58:2 (June 2007): pages 245-256. Abstract:

“Hungarians are unique among the other European populations because according to history, the ancient Magyars had come from the eastern side of the Ural Mountains and settled down in the Carpathian basin in the 9th century AD. Since variations in the human mitochondrial genome (mtDNA) are routinely used to infer the histories of different populations, we examined the distribution of restriction fragment length polymorphism (RFLP) sites of the mtDNA in apparently healthy, unrelated Hungarian subjects in order to collect data on the genetic origin of the Hungarian population. Among the 55 samples analyzed, the large majority belonged to haplogroups common in other European populations, however, three samples fulfilled the requirements of haplogroup M. Since haplogroup M is classified as a haplogroup characteristic mainly for Asian populations, the presence of haplogroup M found in approximately 5% of the total suggests that an Asian matrilineal ancestry, even if in a small incidence, can be detected among modern Hungarians.”

Garrett Hellenthal, George B. J. Busby, G. Band, J. F. Wilson, Cristian Capelli, D. Falush, and S. Myers. “A Genetic Atlas of Human Admixture History.” Science 343:6172 (February 14, 2014): pages 747-751. Companion website. 18 Hungarians participated in this study. Excerpts from the website:

“The clearest admixture signal in each population predates the Mongol empire but involves the minority source group having at least some ancestry related to Northeast Asians (e.g. the Oroqen, Mongola and Yakut), with approximately 2-4% of these groups’ total ancestry proportion linking directly to East Asia, […] highest in Hungarians. These results are consistent with our detecting a genetic legacy from invasions of peoples from the Asian steppes (e.g. the Huns, Magyar and Turkic Bulgars) during the first millennium CE […]”

E. Bogácsi-Szabó, T. Kalmár, B. Csányi, G. Tömöry, A. Czibula, K. Priskin, F. Horváth, C. S. Downes, and I. Raskó. “Mitochondrial DNA of ancient Cumanians: culturally Asian steppe nomadic immigrants with substantially more western Eurasian mitochondrial DNA lineages.” Human Biology 77:5 (October 2005): pages 639-662. Abstract:

“The Cumanians were originally Asian pastoral nomads who in the 13th century migrated to Hungary. We have examined mitochondrial DNA from members of the earliest Cumanian population in Hungary from two archeologically well-documented excavations and from 74 modern Hungarians from different rural locations in Hungary. Haplogroups were defined based on HVS I sequences and examinations of haplogroup-associated polymorphic sites of the protein coding region and of HVS II. To exclude contamination, some ancient DNA samples were cloned. A database was created from previously published mtDNA HVS I sequences (representing 2,615 individuals from different Asian and European populations) and 74 modem Hungarian sequences from the present study. This database was used to determine the relationships between the ancient Cumanians, modern Hungarians, and Eurasian populations and to estimate the genetic distances between these populations. We attempted to deduce the genetic trace of the migration of Cumanians. This study is the first ancient DNA characterization of an eastern pastoral nomad population that migrated into Europe. The results indicate that, while still possessing a Central Asian steppe culture, the Cumanians received a large admixture of maternal genes from more westerly populations before arriving in Hungary. A similar dilution of genetic, but not cultural, factors may have accompanied the settlement of other Asian nomads in Europe.”

Ornella Semino, Giuseppe Passarino, Lluís Quintana-Murci, Aiping Liu, Judit Béres, Andreas Czeizel, and A. Silvana Santachiara-Benerecetti. “MtDNA and Y chromosome polymorphisms in Hungary: inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool.” European Journal of Human Genetics 8 (2000): pages 339-346. This particular study’s Hungarian samples carried the R1a Y-DNA haplogroup at a frequency of 60 percent. Abstract:

“Magyars imposed their language on Hungarians but seem not to have affected their genetic structure. To better investigate this point, we analysed some mtDNA and Y chromosome polymorphisms in a sample of the Hungarian Palóc who, for historical reasons, could have retained genetic traces of Magyars more than other groups. In addition, we examined a mixed sample from Budapest. About 100 individuals were tested for the markers defining all the European and Asian mtDNA haplogroups and about 50 individuals for some Y chromosome markers, namely the 12f2 and 49a,f/TaqI RFLPs, the YAP insertion, the microsatellites YCAIIa, YCAIIb, DYS19 and the Asian 50f2/C deletion. In the mtDNA analysis only two subjects belonged to the Asian B and M haplogroups. The Y chromosome analyses showed: that the Palóc differed from the Budapest sample by the absence of YAP+ allele and by the DYS19 allele distribution; that the proto-European 49a,f Ht 15 and the neolithic 12f2-8Kb were rather uncommon in both groups; that there is a high prevalence of the 49a,f Ht 11 and the YCAII a5-b1; and that the Asian 50f2/C deletion is absent. These results suggest that the influence of Magyars on the Hungarian gene pool has been very low through both females and males and the Hungarian language could be an example of cultural dominance. Alternative explanations are discussed. An expansion centred on YAP-; 49a,f Ht 11 is revealed by the median network based on compound haplotypes. 49a,f Ht 11 could represent either a paleolithic marker of eastern Europe which underwent expansion after the last glacial period, or a marker of the more recent spread of the Yamnaia culture from southern Ukraine.”

Vincenza Battaglia, Simona Fornarino, Nadia Al-Zahery, Anna Olivieri, Maria Pala, Natalie M. Myres, Roy J. King, Siiri Rootsi, Damir Marjanovic, Dragan Primorac, Rifat Hadziselimovic, Stojko Vidovic, Katia Drobnic, Naser Durmishi, Antonio Torroni, Augusta Silvana Santachiara-Benerecetti, Peter A. Underhill, and Ornella Semino. “Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe.” European Journal of Human Genetics 17:6 (2008): pages 820-830. The Y-DNA haplogroup R1a1a-M17 was found in about 57% of their sample of 53 Hungarian men.

Kristiina Tambets, Siiri Rootsi, Toomas Kivisild, Hela Help, Piia Serk, Eva-Liis Loogvöli, Helle-Viivi Tolk, Maere Reidla, Ene Metspalu, Liana Pliss, Oleg Balanovsky, Andrey Pshenichnov, Elena Balanovska, Marina Gubina, Sergey Zhadanov, Ludmila Osipova, Larisa Damba, Mikhail Voevoda, Ildus A. Kutuev, Marina Bermisheva, Elza Khusnutdinova, Vladislava Gusar, Elena Grechanina, Jüri Parik, Erwan Pennarun, Christelle Richard, Andre Chaventre, Jean-Paul Moisan, Lovorka Barać, Marijana Peričić, Pavao Rudan, Rifat Terzić, Ilia Mikerezi, Astrida Krumina, Viesturs Baumanis, Slawomir Koziel, Olga Rickards, Gian Franco De Stefano, Nicholas Anagnou, Kalliopi I. Pappa, Emmanuel Michalodimitrakis, Vladimir Ferák, Sandor Füredi, Radovan Komel, Lars Beckman, and Richard Villems.“The Western and Eastern Roots of the Saami—the Story of Genetic ‘Outliers’ Told by Mitochondrial DNA and Y Chromosomes.” American Journal of Human Genetics 74:4 (2004): pages 661-682. 113 Hungarians were among those tested for this study. In this sample, only 20.4% of the Hungarians carried the Y-DNA haplogroup R1a.

Z. H. Rosser, T. Zerjal, M. E. Hurles, M. Adojaan, D. Alavantic, A. Amorim, W. Amos, M. Armenteros, et al. “Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language.” American Journal of Human Genetics 67:6 (2000): pages 1526-1543. Y-DNA haplogroup R1a1-SRY1532b positive lineages were found in about 22% (8) of the 36 Hungarian men tested.

Horolma Pamjav, Tibor Fehér, Endre Németh, and Zsolt Pádár. “Brief communication: New Y-chromosome binary markers improve phylogenetic resolution within haplogroup R1a1.” American Journal of Physical Anthropology. First published online on October 31, 2012. Excerpts from the Abstract:

“R1a1-M458 and R1a1-Z280 were typical for the Hungarian population groups, whereas R1a1-Z93 was typical for Malaysian Indians and the Hungarian Roma.”

Fulvio Cruciani, Roberta La Fratta, Beniamino Trombetta, Piero Santolamazza, Daniele Sellitto, Eliane Beraud Colomb, Jean-Michel Dugoujon, Federica Crivellaro, Tamara Benincasa, Roberto Pascone, Pedro Moral, Elizabeth Watson, Bela Melegh, Guido Barbujani, Silvia Fuselli, Giuseppe Vona, Boris Zagradisnik, Guenter Assum, Radim Brdicka, Andrey I. Kozlov, Georgi D. Efremov, Alfredo Coppa, Andrea Novelletto, and Rosaria Scozzari. “Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12.”Molecular Biology and Evolution 24(6) (June 2007): pages 1300-1311. First published online on March 10, 2007. Data from 106 Hungarian males represent a row on “Table 1: Frequencies (%) of the Y-chromosome E-M78 sub-haplogroups in the 81 populations analyzed”. 9.43% of them (10 individuals) belong to E-M78 and 9.43% to E-V13.

T. Fehér, E. Németh, A. Vándor, I. V. Kornienko, L. K. Csáji, and H. Pamjav. “Y-SNP L1034: limited genetic link between Mansi and Hungarian-speaking populations.” Molecular Genetics and Genomics. First published electronically on September 26, 2014. Forthcoming in print. Among the populations sampled are Hungarians, Szeklers (Seklers), Northern Mansi, and Khanty. Hungarians differ from other Uralic-speaking peoples in the near absence of the haplogroup N-Tat among them, but this study did find some Hungarian and Szekler samples who tested positive for the L1034 SNP marker, which appears to be a subgroup of N-Tat. As some Northern Mansi samples also have L1034, the authors wonder whether there was a limited amount of common ancestry or genetic sharing between the Hungarian and Mansi peoples in ancient times.

Iron Age Hungarian belonged to haplogroup N. I believe this was found in ancient Magyars from Hungary before, but apparently it existed there long before them.

See also Eszter Banffy’s The Early Neolithic in the Danube-Tisza interfluve

Abstract:  Along with a growing interest in prehistoric frontier zones in Europe, the present volume focuses on one of these marginal regions, on a white spot in the Early Neolithic of the Carpathian Basin. While the Eastern and Western parts have been rather well researched, the dense settlement of the Körös culture in the centre of the Basin, in the Danube alluvial plain has hardly ever been discussed. Fifty Körös sites identified and described, as well as the evaluation of an old unpublished excavation are the backbones, completed with a multi-facetted analysis of the landscape, vegetation, the anthropological assessment and zooarchaeological remains as well as with archaeometric studies.
The key question discussed in the volume is the enigmatic behaviour of two neighbouring and genetically related North Balkan communities: the Körös and the Starčevo groups show no archaeologically visible contact with each other. In the light of the spread of farming towards Central Europe, a process in which the Starčevo groups played a key role whilst the Körös groups did not, the question becomes even more relevant. The Southern Danube region in Hungary is one of the crucial areas where the turn to sedentary life and its spread towards Central Europe life took place. The book gives a summary of our present knowledge, gives the trajectories of further research but also formulates a series of new questions on the Neolithic transition.
The author has been working on the cultural, genetic, cognitive and environmental changes in Neolithic for decades, while the contributors add detailed information to a series of related topics.

Cristina Gamba et al.  Genome flux and stasis in a five millennium transect of European prehistory Nature Communications 5, Article number: 5257 doi:10.1038/ncomms6257

The Great Hungarian Plain was a crossroads of cultural transformations that have shaped European prehistory. Here we analyse a 5,000-year transect of human genomes, sampled from petrous bones giving consistently excellent endogenous DNA yields, from 13 Hungarian Neolithic, Copper, Bronze and Iron Age burials including two to high (~22 × ) and seven to ~1 × coverage, to investigate the impact of these on Europe’s genetic landscape. These data suggest genomic shifts with the advent of the Neolithic, Bronze and Iron Ages, with interleaved periods of genome stability. The earliest Neolithic context genome shows a European hunter-gatherer genetic signature and a restricted ancestral population size, suggesting direct contact between cultures after the arrival of the first farmers into Europe. The latest, Iron Age, sample reveals an eastern genomic influence concordant with introduced Steppe burial rites. We observe transition towards lighter pigmentation and surprisingly, no Neolithic presence of lactase persistence.

Link

The Great Hungarian Plain, situated between Mediterranean and temperate Europe, was throughout prehistory a place of cultural and technological transformations as well as a major meeting point of Eastern and Western European cultures9. Farming began in this region with the Early Neolithic Körös culture, 6,000–5,500 cal BC, which is part of the Early Neolithic of Southeast Europe10, 11, 12, followed ~5,500 cal BC by the Middle Neolithic Linearbandkeramik (LBK) culture that consisted of two synchronous regional groups: the Alföld Linear Pottery (ALP, also Bükk) culture13, 14 and the Transdanubian LBK variant in West Hungary15, which later dispersed agriculture into Central Europe and became the dominant farming culture of Europe. Locally, it developed into the Late Neolithic (ca. 5,000–4,500 cal BC) Lengyel culture.

In the Great Hungarian Plain, there is continuity in material culture and settlements between the Late Neolithic and the Copper Age Baden Culture. However, during the Early Bronze Age (2,800–1,800 cal BC), growing demand for metal ores throughout Europe gave rise to new pan-European and intercontinental trading networks16. The Early Bronze Age cultures of the Great Hungarian Plain incorporated technology, settlement type and material cultural elements from the contemporaneous Bronze Age cultures of the Near East, Steppe and Central Europe. Finally, during the early phase of the Iron Age (first millennium BC), a variant of the Central European Hallstatt culture inhabited Transdanubia, whereas pre-Scythian (‘Mezőcsát communities’ of unknown origin) and later Scythian cultures prevailed further East on the Great Hungarian Plain.

A compelling question is whether these major prehistoric transitions involved exogenous population influxes. Particularly, in the transition to agriculture in this gateway of the European Neolithic, what level of interaction and intermarriage may have occurred between local hunter-gatherer and non-local farmers? Archaeological evidence for the presence of Mesolithic hunter-gatherers in Southeast Europe is limited to a few small regions9 while a greater Mesolithic presence can be documented for parts of Northern Hungary and further northwards.

Here we assess the imprint of this series of major cultural and technological shifts on the genomes of Central European prehistory through the analysis of a 5,000-year temporal transect of complete and partial genomes of individuals from archaeological sites in the Great Hungarian Plain….

Figure 4: Ancient Hungarians ADMIXTURE plot.

Ancient Hungarians ADMIXTURE plot.

ADMIXTURE analysis (K=4) of the nine 1 × imputed samples along with 552 modern reference samples (HGDP+) using a LD (r2<0.2) filtered data set of 60,824 SNPs.

Our Neolithic genomes all cluster with affinity to Southern Mediterranean individuals, particularly Sardinians, echoing the results of previous direct analyses of European Neolithic and post-Neolithic genomes2, 6, 8. This affinity persists through nine successive time points in our data, including a diversity of Neolithic cultures. In contrast, we observe high mtDNA diversity during this period, as previously observed in Central Europe23. Affinities of our observed Y-chromosome lineages (I2 and C6 haplogroups, Table 1) with a Mesolithic background5, 7 and our mtDNA haplogroups with farming communities (especially the N1a haplogroup, Table 1)24 tentatively support the incorporation of local male hunter-gatherers into farming communities during the Central European Neolithic (Table 1), in contrast to the male-dominated diffusion of farmers suggested for the Mediterranean route25.

The genomic stasis of the Neolithic is subsequently interrupted during the third millennium BC coinciding with the onset of the Bronze Age. Our two Bronze Age samples, BR1 (1,980–2,190 cal BC) and BR2 (1,110–1,270 cal BC) fall among modern Central European genotypes. Within this period the trade in commodities across Europe increased and the importance of the investigated region as a node is indicated by the growth of heavily fortified settlements in the vicinities of the Carpathian valleys and passes linking North and South26. These two Bronze Age genomes represent the oldest genomic data sampled to date with clear Central European affinities.

A third genomic shift occurs around the turn of the first millennium BC. The single Iron Age genome, sampled from the pre-Scythian Mezőcsát Culture (Iron Age (IR1), 830–980 cal BC), shows a distinct shift towards Eastern Eurasian genotypes, specifically in the direction of several Caucasus population samples within the reference data set. This result, supported by mtDNA and Y-chromosome haplogroups (N and G2a1, respectively, both with Asian affinities) suggests genomic influences from the East. This is supported by the archaeological record which indicates increased technological and typological affinities with Steppe cultures at this time, including the importation of horse riding, carts, chariots and metallurgical techniques26. Modern Hungarians occupy an intermediate position between the IR1 and more Western Bronze Age genomes, most likely reflecting the continuation of admixture in the Central European gene pool since this time.

Genotypes under selection

Imputation permitted us to follow the temporal dynamics of genetic variants that are believed to have been under selection. Of two skin pigmentation loci known to have swept to fixation during European prehistory32, 33, the light pigmentary variant of SLC24A5 is present from the earliest of our samples and is homozygous from the Middle Neolithic onwards, whereas the light pigmentary variant of SLC45A2 only appears towards the later half of our transect with the first homozygote genotype in the Copper Age (Fig. 3). Both SLC24A5 and SLC45A2 exhibited an ancestral homozygous state in Mesolithic specimens of Central5 and Western Europe7, while SLC24A5 had the derived state in a Central European Neolithic individual5. Our temporal transect suggests separate selective sweeps at these two pigmentary loci, acting over a millennium apart. The selected variant at a third pigmentary locus with a proposed adaptive history in Europe, TYRP1, also shows some tendency to higher prevalence in later samples. This temporal transition towards lighter pigmentation is also seen with hair where colours and shades estimated from SNPs used in the forensic Hirisplex system grade from black/dark brown in earlier samples to light brown and dark blonde in later individuals (Fig. 3).

One of the strongest signals of selection within human genome variation is that around the lactase persistence allele in Europeans; a response to a dietary focus on raw milk from domestic cattle. It has been postulated that this allele first underwent selection 5,500 years BC, possibly in association with the Neolithic LBK culture within Central Europe34. Here in our temporal sequence, its appearance is delayed until the more recent of our Bronze Age individuals, who lived only ~1,000 years BC.

Discussion

The extension of population genomics into the temporal dimension is an exciting recent development in the field of human evolution but the low endogenous DNA content of most archaeological bones is a major constraint, even with falling sequencing costs, accessing whole genomes from samples comprising <1% target genome is often prohibitive. We have shown that for a range of samples from different sites and time depths up to ~8,000 years, excellent yields of >50% are typical from extractions of the petrous portion of the skull temporal bone. Where tested, this contrasts significantly with yields from other skeletal parts from the same individual, despite similar taphonomic conditions. We suggest that the high density17 of the petrous bone results in reduced bacterial and chemical-mediated post-mortem DNA decay. We also show that, at least for Europeans, imputation of 1 × genome coverage sequences can give genome-wide diploid calls for ~80% of genome-wide SNPs, at ~99% accuracy, greatly leveraging their information content. These data can be used to examine SNPs of particular phenotypic interest and make whole genome analyses such as examination of ROH, ADMIXTURE and PCA analysis possible. It is important to note, though, that other methods may be sensitive to biases among SNPs as to which are imputable and that samples of higher divergence from the reference populations may impute with lesser accuracy.

Genome-wide imputation offered the opportunity to assess phenotypic change through time from low-coverage genomes. Our samples show a tendency towards lighter pigmentation through and after the Neolithic. In particular we examined three pigmentation SNPs that display European-specific selective sweeps that are presumed to facilitate vitamin D synthesis and estimated as having occurred within the last 11,000–19,000 years33. We surmise that these sweeps occurred more recently, within the time depth of our transect, with SLC24A5 showing the earliest fixation (~5,000 BC), while SLC45A2 and TYRP1 were not found in homozygous individuals until the Late Neolithic (~4,000–3,000 BC). Wilde et al.32 also found intermediate frequencies for SLC45A2 in ancient Ukranian Eneolithic and Early Bronze Age samples. The strongest dietary adaptive signal in the human genome is the highly structured global distribution and extended homozygosity around the lactase persistence allele in European genomes35. Selection on this variant was undoubtedly driven by dairying, but despite evidence for milk residues in ceramic vessels from a Körös context in the 6th millenium BC (ref. 36) this variant remains absent throughout the 10 Neolithic/Copper Age stages of our transect. Absence of the lactase persistence allele has been reported before from Neolithic specimens37, 38, although the selective sweep has been modelled as originating between Central Europe and the Balkans ~4–6,000 years BC (ref. 34). Its absence here until the late Bronze Age, ~1,000 years BC, suggests a more recent dating of this extremely interesting episode in the dynamic history of European genomes.

Beyond inferences about individual phenotypes, we have used our results to examine the population genetic affinities of a temporal transect of genome sequences from burials on the Great Hungarian Plain, a region of high archaeological significance for major European cultural transitions. We investigated samples across a diversity of archaeological cultures and show evidence for major shifts in genome affinity accompanying the advents of the Neolithic, Bronze and Iron Ages, strongly implying that these changes in material culture were accompanied by substantial migrations. The Neolithic genomes reported here accord with prior German, Scandinavian and Alpine early farmer genomes in showing an immigrant signature of Southern Mediterranean affinity2, 5, 6, 8. However, an intriguing finding is that of a single individual with a strongly Mesolithic genomic signature within the context of the Körös culture, part of the earliest Neolithic of Southern Europe. This is the earliest genetic indication of contact between these two subsistence strategies. In the Middle and Late Hungarian Neolithic local Mesolithic influence is further discernible through the appearance of mtDNA and Y-chromosome haplogroups typical of European hunter-gatherer populations, concurring with other evidence for admixture in the ancestry of European farmers5, 8, 22, 23.

Similar to the Tyrolean Copper Age iceman6 our Copper Age (Baden Culture) sample shows similarity to Neolithic genomes, in accordance with archaeological continuity in the region. In contrast, the Bronze Age genomes shift towards an affinity to Central Europe, suggesting migratory influence from the North. The single pre-Scythian IR1 genome shows another shift towards migration from the East. Altogether, our results accord with archaeological perspectives that link these major transitions in European material culture to population movements rather than cultural diffusion alone.

Photo

A 7,700-year-old skeleton of a woman found in Hungary has yielded DNA. Scientists have found that she belonged to a wave of early farmers who moved into Europe from the Near East. Credit Ron Pinhasi

About 50,000 years ago, humans from Africa first set foot in Europe. They hunted woolly mammoths and other big game — sometimes to extinction. Eventually, they began grazing livestock and raising crops.

They chopped down forests and drained swamps, turning villages into towns, then cities and capitals of empires. But even as they altered the Continent, Europeans changed, too.

Their skin and hair grew lighter. They gained genetic traits particular to the regions in which they lived: Northern Europeans, for example, grew taller than Southern Europeans.

Up till now, scientists have learned about evolution on the Continent mostly by looking at living Europeans. But advances in biotechnology have made it possible to begin extracting entire DNA from the bones of ancestors who lived thousands of years ago. Their genomes are like time machines, allowing scientists to see bits of European history playing out over thousands of years.

Recently David Reich, a geneticist at Harvard Medical School, and his colleagues analyzed the genomes of nine ancient Europeans. Eight belonged to hunter-gatherers who lived about 8,000 years ago, seven in what is now Sweden and one in Luxembourg. The ninth came from a farmer who lived 7,000 years ago in present-day Germany.

The scientists compared these genomes with those of living Europeans. As they reported last month in Nature, the study revealed something scientists never knew: Europeans today have genes from three very different populations.

The oldest of these populations were the first Europeans, who appear to have lived as hunter-gatherers. The second were farmers who expanded into Europe about 8,500 years ago from the Near East.

But most living Europeans also carry genes from a third population, which appears to have arrived more recently. Dr. Reich and his colleagues found the closest match in DNA taken from a 24,000-year-old individual in Siberia, suggesting that the third wave of immigrants hailed from north Eurasia. The ancient Europeans that the scientists studied did not share this North Eurasian DNA. They concluded that this third wave must have moved into Europe after 7,000 years ago.

Last week, another team of scientists reported data from an even bigger haul of ancient European genomes — 13, all told. While Dr. Reich and his colleagues studied ancient Europeans separated by hundreds of miles, these scientists focused on just one region in Central Europe called the Great Hungarian Plain.

The people whose genomes the scientists retrieved lived on the plain at various times between 7,700 years ago and 2,800 years ago.

“What’s really exciting here is to have a transect through time,” said Johannes Krause, a co-director of the Max Planck Institute for History and the Sciences in Jena, Germany, who was not involved in the study. “It’s the first time that’s been done.”

Archaeological digs have revealed evidence of farming on the plain as long as 8,000 years ago. People there raised crops like barley, and raised cattle and other livestock. Shards of pottery show that they consumed milk.

The oldest genomes retrieved from human remains in the area — one from a man and one from a woman — date back to the dawn of agriculture on the plain. The woman’s DNA showed that she belonged to the ancient farming population documented by Dr. Reich and his colleagues.

The man, however, did not have the genes of a farmer. He belonged to the oldest population of hunter-gatherers.

“The archaeological information isn’t enough to say whether he was married to a local farmer,” said Ron Pinhasi, an archaeologist at University College Dublin and a co-author of the new study. It may even be that the man’s skull was a trophy of some sort, Dr. Pinhasi added.

Archaeologists have found that early farming culture didn’t change drastically for the next 3,700 years. But about 4,000 years ago, the Bronze Age arrived. People started using bronze tools, trading over longer networks and moving into fortified towns.

Dr. Pinhasi and his colleagues found that the era also brought a sudden shift in human DNA. A new population arrived on the Great Hungarian Plain, and Dr. Reich believes he knows who they were: the northern Eurasians.

“It’s very exciting,” he said. “It documents that by this time in Central Europe, this Eastern influence had already arrived.”

At the start of the Bronze Age, life settled down on the plain for a thousand years. But then came the Iron Age, bringing another shift in culture — and genes.

People began traveling across the plain by horse-drawn chariots and wagons, and the genomes from 2,800 years ago show that the people of the Bronze Age had begun to be supplanted by a new Iron Age population. These are the people most closely related to living Hungarians.

In the new study, Dr. Pinhasi and his colleagues also surveyed individual genes known to have changed over the course of European history.

Today, for example, people in Hungary tend to have light skin and light brown hair, and half of them carry a mutation that lets them digest milk as adults. It took thousands of years for the genes for these traits to appear on the Great Hungarian Plain, the scientists found.

The hunter-gatherer that lived 7,700 years ago, for example, probably had black hair and dark skin, along with blue eyes. His genes suggest that he also probably couldn’t digest milk — not surprising, since he came from a population that didn’t raise livestock.

The ancient farmer woman, on the other hand, probably had dark brown hair and brown eyes. But like the hunter-gatherers, she lacked the genetic mutation for digesting milk.

It is not until 6,400 years ago that the scientists find the first genetic evidence on the Great Hungarian Plain for light brown hair. And the milk mutation appeared even later, just 3,100 years ago.

It is possible that these new genes and others were brought to the plain by successive waves of immigrants. But natural selection probably played a role in making these genes pervasive.

Genetic mutations that enable people to drink milk as adults, for example, could have helped them survive famines. In cow-herding cultures, scientists have found, the milk-drinking mutation led to a 10 percent increase in the number of children.

If that’s true, then for 4,600 years people on the Great Hungarian Plain were milking cows but lacked the ability to digest milk. Dr. Pinhasi suggested that they only used milk at first to make cheese and yogurt, which would have been easier to digest.

Daniel G. Bradley, a geneticist at Trinity College Dublin and co-author of the new study, predicted more unexpected results would emerge as scientists gather more ancient DNA in Europe.

“The past is going to be a different country,” he said, “and it’s going to surprise us.”

Lazaridis, Iosif, et al., Ancient human genomes suggest three ancestral populations for present-day Europeans, Nature 513,409–413(18 September 2014) doi:10.1038/nature13673 17 September 2014

We sequenced the genomes of a ~7,000-year-old farmer from Germany and eight ~8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes1,2, 3, 4 with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians3, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations’ deep relationships and show that early European farmers had ~44% ancestry from a ‘basal Eurasian’ population that split before the diversification of other non-African lineages.

See other comments on Hungarian and Austrian N1a haplogroup: “Hungarian ancient DNA and the origins of Central European Neolithic” (September 3, 2013)

Davidski leads me to this interesting article where the Neolithic mtDNA of what is now Hungary is detailed far beyond of what I used to know:Eszter Banffy, German-Hungarian bioarchaeological research project in the Archaeological Institute of the Research Centre for the Humanities, Hungarian Academy of Sciences, Hungarian Archeology, 2013. Open access → LINK 1, LINK 2
Note: the second link, even if unofficial (Banffy’s academia.edu page) provides (at least in my browser) with a better formatted PDF.
Most interesting is this map:
previous CE data
The results are roughly similar to those obtained for early Neolithic Germany. For comparison, to the right there is a pie chart I built recently with the German data (plus one Austrian and another Eastern Hungarian samples, which were already known – H and N1a respectively).
The main difference is the much greater presence of U(xK) in Germany, surely remnant of pre-Neolithic peoples. Otherwise it is quite similar to the West Hungarian pie (consider R* as most likely H, just that untested for the relevant markers). No wonder if we consider that West Hungary (along with nearby areas in Austria, Slovakia and Moravia) is at the origin of the Western Linear Pottery Culture, also known as Danubian Neolithic or LBK.

Compare the above Hungarian genes with the Northeastern Asian genes of the Tungusic peoples below:

Duggan AT, Whitten M, Wiebe V, Crawford M, Butthof A, et al. (2013) Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers. PLoS ONE 8(12): e83570. doi:10.1371/journal.pone.0083570

 

Evenks and Evens are spread over a wide area of northern Asia from the Yenissey river in the west to the Chukotka and Kamchatka peninsulas in the east, and from the Taimyr Peninsula in the north to northern China in the south. They are linguistically and culturally closely related with a traditional life-style of highly nomadic hunting and gathering and reindeer herding; their languages belong to the North Tungusic branch of the Tungusic language family [1]. Other Tungusic-speaking groups are settled to the southeast of the Evenks and Evens, along the lower Amur and Ussuri rivers, as well as on Sakhalin island. These include the linguistically closely related Negidal, whose North Tungusic language shows similarities to both Evenki and Even, as well as populations speaking languages classified as South Tungusic, such as the Udegey (also known as Udihe or Udeghe) and Ulchi. In contrast to the Evens and Evenks, the Tungusic peoples of the Amur-Ussuri region, who we here also refer to alternatively as Amur Tungusic, are traditionally sedentary fishermen and hunters rather than nomadic reindeer herders [2,3].

Different hypotheses exist concerning the origins of the North Tungusic Evenks and Evens and their relations with the Amur Tungusic peoples. Vasilevič [4] proposed a relatively ancient separation some 3500 years before present (BP) and a split between the Evenks and Evens approximately 1500 years BP, when the North Tungusic groups migrated northwards from an area south of Lake Baikal. In contrast, Tugolukov [5] and Janhunen [6] propose a more recent separation of the North and Amur Tungusic groups some 800 years BP, with the ultimate split of Evenks and Evens possibly occurring as late as the 17th to 18th centuries CE. At this time Turkic-speaking cattle and horse pastoralists, the Yakuts, expanded over the large territory they occupy nowadays [7,8], in the process displacing the Tungusic reindeer herders. During this displacement, the ancestors of current-day Evenks moved west- and northwestwards, while the ancestors of present-day Evens moved to the east and northeast [9].

The spread of the ancestors of the North Tungusic groups over the large territory they occupy nowadays may have been accompanied by different degrees of intermarriage with local inhabitants. Thus, it is assumed that Yukaghir groups were assimilated by Evenks and especially Evens [9], a process that has continued until recent times [10]. Nowadays, the settlement pattern of these North Tungusic populations is highly fragmented, with small communities living interspersed with other peoples, such as Kets and Samoyedic groups in the west, Buryats in the southwest, Yakuts and Yukaghirs in the central regions, and Chukchi and Koryaks in the east. This has led to a large degree of dialectal diversification of both the Evenki and Even language [11,12], possibly due to contact with the languages spoken by their neighbours. The South Tungusic populations, on the other hand, live in the vicinity of the Nivkh and formerly of the Ainu. The Nivkh speak an isolate language and were traditionally fishermen and hunters of sea mammals [13].

The populations of northern Asia are characterized in the maternal line by high frequencies of mtDNA haplogroups C and D [10,1418]; in contrast, the peoples of the Amur-Ussuri region carry high frequencies of haplogroups Y1 and N9b [10,18,19], while the peoples of Kamchatka are characterized by high frequencies of haplogroup G1, also common in the Negidal [18,20]. In the paternal line, Y-chromosomal haplogroup C is widespread over a large area encompassing both Siberia and the Amur-Ussuri region, being found in high frequency in North Tungusic and Amur Tungusic populations as well as in the Nivkh. In contrast, northern Siberian populations are characterized by high frequencies of haplogroup N, with N1c being the predominant haplogroup found in the Yakuts [14,15,17,19,2126]. There are thus discrepancies between the maternal, paternal, and linguistic perspectives concerning the population history of northern Asia and the Amur-Ussuri region: whereas the mtDNA data point to an ancient divergence between peoples inhabiting the two regions, the Y-chromosomal haplogroup frequencies link the Tungusic peoples of central and northeastern Siberia with those of the Amur-Ussuri area, and linguistically the Evenks, Evens, Negidals, and South Tungusic populations such as the Udegey and Ulchi share a relatively recent common ancestor.

The historical expansion and the resulting fragmented settlement pattern of the Evenks and Evens raises the question to what extent different communities have intermarried with their geographic neighbours rather than their linguistic and cultural relatives. A previous investigation into the relationship of Evenks and Evens found evidence for shared ancestry in both the mtDNA and Y-chromosomal data, with subsequent isolation of men belonging to different subgroups as well as indications of intermarriage with neighbouring populations in the maternal line [15]. In this study, we refine our analysis with complete mtDNA genome sequences for four subgroups of Evenks and five subgroups of Evens in comparison to their linguistic relatives, the South Tungusic Udegey, as well as to their geographic neighbours the Yakuts, Yukaghirs, and Koryaks. We also include the geographic neighbours of the Udegey, the Nivkh, to shed light on the question to which extent admixture rather than shared ancestry has shaped the genepool of the populations of Siberia and the Amur-Ussuri region. To explore the paternal relationships of the North Tungusic groups, Y-chromosomal haplogroup and short tandem repeat (STR) data are taken into account. With this data set, we are able to demonstrate that genetic drift and differential admixture have attenuated the signal of shared ancestry among the North Tungusic populations, and that the Udegey are likely to be the result of admixture in the maternal line between indigenous Amur-Ussuri populations and Siberian populations presumably speaking Tungusic languages.

Results

MtDNA diversity and haplogroup composition

The populations of the Amur-Ussuri region (Udegey and Nivkh) are characterized by low sequence diversity (0.88) and intermediate and low nucleotide diversity values (0.0016 and 0.0011, respectively; Table 1). This contrasts with the Yakuts, who are among the populations studied here with the highest sequence and nucleotide diversity (0.98 and 0.0022-0.0023, respectively). The Sebjan and Kamchatkan Evens and the Stony Tunguska Evenks have relatively low sequence (0.86, 0.90, and 0.94, respectively) and intermediate nucleotide diversity values (0.0016, 0.0018, and 0.0015, respectively), which contrast with the Sakkyryyr Evens, whose sequence and nucleotide diversity are as high as those found in the Yakuts (0.98 and 0.0023).

Population abbrev linguistic affiliation geography N n S Seq div Seq div SD π π SD
all Evenk N. Tungusic Siberia 130 53 287 0,98 0,00 0,0020 0,0010
Taimyr TAI N. Tungusic Siberia 24 16 145 0,95 0,03 0,0020 0,0010
Stony Tunguska STE N. Tungusic Siberia 39 17 124 0,94 0,02 0,0015 0,0007
Nyukzha NYUK N. Tungusic Siberia 46 25 175 0,97 0,01 0,0021 0,0011
Iengra IENG N. Tungusic Siberia 21 13 107 0,96 0,02 0,0017 0,0009
all Even N. Tungusic Siberia 122 54 232 0,98 0,00 0,0020 0,0010
Sakkyryyr SAK N. Tungusic Siberia 23 19 150 0,98 0,02 0,0023 0,0012
Sebjan SEB N. Tungusic Siberia 18 8 71 0,86 0,06 0,0016 0,0008
Tompo TOM N. Tungusic Siberia 27 16 128 0,95 0,02 0,0018 0,0009
Berezovka BER N. Tungusic Siberia 15 11 85 0,95 0,04 0,0017 0,0008
Kamchatka KAM N. Tungusic Kamchatka 39 13 103 0,90 0,02 0,0018 0,0009
Udegey UDI S. Tungusic Amur-Ussuri 31 14 96 0,88 0,05 0,0016 0,0008
all Yakut Turkic Siberia 169 94 446 0,98 0,00 0,0023 0,0011
Vilyuy VIL_YAK Turkic Siberia 49 35 252 0,98 0,01 0,0022 0,0011
Central CNT_YAK Turkic Siberia 88 64 368 0,98 0,01 0,0023 0,0011
Northeast NE_YAK Turkic Siberia 32 24 185 0,98 0,01 0,0023 0,0011
Yukaghir YUK isolate Siberia 20 13 105 0,94 0,03 0,0018 0,0009
Koryak KOR Chukotko-Kamchatkan Kamchatka 15 8 75 0,90 0,05 0,0018 0,0009
Nivkh NIV isolate Amur-Ussuri 38 14 60 0,88 0,04 0,0011 0,0006

Table 1. mtDNA diversity values in the populations studied here with their linguistic affiliation and rough geographic location.

abbrev = abbreviation used in figures and tables; N = sample size; n = number of haplotypes; S = number of polymorphic sites; Seq div = sequence diversity; SD = standard deviation; π = nucleotide diversity
CSV

Figure 1 Map of Siberia showing approximate locations of sampled populations and their basic haplogroup composition.

FIGURE 1: Map of Siberia showing approximate locations of sampled populations and their basic haplogroup composition.

(Sub)population abbreviations as in Table… show more

As can be seen in Figure 1 and Table S1, haplogroups D4, C4b, and C4a1 are the most frequent haplogroups among the populations analysed here (16.3%-11.4% overall; cf. [17]). Although the Evens and Evenks are characterized by high frequencies of these common haplogroups, they also differ in their haplogroup composition: Evens have a much higher frequency of haplogroup Z (15.6%) than Evenks (4.6%), while Evenks have a much higher frequency of C4a2 (15.4%) than Evens (2.5%), as well as of haplogroup A (8.5%), which is absent among the latter. Subhaplogroup C4b3a is present only in Evens and Yukaghirs, as found previously [17]; in contrast, subhaplogroup C5d1, which was previously suggested to be common in Evens and Yukaghirs [17], is found in four Stony Tunguska Evenks as opposed to only one Yukaghir and two Evens (Table S1). Furthermore, the subhaplogroup of C4b carrying the T3306C transition defined by Fedorova et al. [17] as C4b9, which they suggest is common in Evenks, is found here only in Evens (belonging to the Sakkyryyr and Sebjan subpopulations).

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Figure 1. Map of Siberia showing approximate locations of sampled populations and their basic haplogroup composition.

(Sub)population abbreviations as in Table 1.

doi:10.1371/journal.pone.0083570.g001

Differences exist among the individual Evenk and Even subgroups, too (Table S1). For instance, two sequences belonging to haplogroup A2a are found among the Taimyr Evenks, but not in any of the other Tungusic or neighbouring populations. Haplogroup D5a2a2, which is frequent in Yakuts, is found in nearly 29% in the Iengra Evenks and nearly 9% in the Sakkyryyr Evens, but is absent in the Stony Tunguska Evenks and other Even subgroups. Among the Evens, haplogroup Z is found at particularly high frequency in the eastern subgroups Kamchatka (28.2%) and Berezovka (26.7%) and in intermediate frequency in the Tompo Evens (11.1%), but is low to absent in Sakkyryyr and Sebjan, respectively. All the individuals classified here as Z1a carry the A11252G transition and thus correspond to what was called Z1a3 by Fedorova et al. [17], while all individuals classified in our study as Z1a1 carry the G7521A and G8251A mutations and thus correspond to what they defined as clade Z1a1b.

The South Tungusic Udegey, who are the linguistic relatives of the Evenks and Evens, have a very different haplogroup composition (Table S1): they lack D4, exhibit only low frequencies of C4a1, and have high frequencies of haplogroups N9b (32.3%), M7a2a (16.1%), and M9a1 (9.7%). Other than one M7a2a sequence in the Nyukzha Evenks, these haplogroups are not found in any of the other populations studied here. In addition, the Udegey have 12.9% of haplogroup M8a1 which was not previously recorded in populations of Siberia or the Amur-Ussuri region. In their haplogroup composition, the Udegey also differ from their neighbours the Nivkh, who have 65.8% haplogroup Y1a and 26.3% D4m2, a haplogroup found in low frequencies in Evens and Yakuts, but lacking in the Udegey (Table S1).

MtDNA haplotype sharing analyses and networks

An analysis of shared haplotypes (Table S2) demonstrates that most of the sharing involves the different Yakut subgroups: 35 of the 54 haplotypes that are shared across different (sub)populations involve Yakuts, and 14 are shared only among different Yakut subgroups. Five haplotypes are shared only between Evenks and Yakuts, and five others are shared only between Evens and Yakuts. All five of the haplotypes shared solely between Evens and Yakuts are found in the Sakkyryyr Evens, and four are shared exclusively between Sakkyryyr Evens and Yakuts, demonstrating the considerable amount of admixture in the maternal line that has taken place between this Even subgroup and the Yakuts. Four haplotypes are shared only between Evens and Yukaghirs, while none are shared solely between Evenks and Yukaghirs, which is in good accordance with the greater geographic proximity of the Yukaghirs and the Evens. Three haplotypes are shared exclusively between Evenks and Evens; this contrasts with six haplotypes shared only among Evenk subgroups and four shared only among Evens. The Udegey, Nivkh, and Koryaks each share only one sequence with another population included here, although there is considerable haplotype sharing within these populations (Table S2). The analysis of haplotype sharing thus demonstrates the distinctiveness of the populations of the periphery (Amur-Ussuri region and Kamchatka), as also reflected in their divergent haplogroup composition (Table S1), a certain level of divergence between the Evenks and Evens, and the central position played by the Yakuts, who share haplotypes with Evenks, Evens, Yukaghirs, and even Nivkh and Udegey.

Analyses of haplotype sharing only provide information on identical sequences shared between populations; network analyses in addition show closely related, albeit not identical, sequences. Note, however, that the results of the two types of analysis are not entirely comparable, as they are based on different alignments, as described in the Material & Methods section below. The network of C4a (Figure 2) shows that whereas subhaplogroup C4a1 is widespread in Siberian populations, subhaplogroup C4a2 is dominated by Evenk and Yakut sequences. Thus, of 18 haplotypes, nine are found in Evenks and seven are found in Yakuts; only one haplotype, which is shared with Evenks, Yakuts, and Yukaghirs, is found in Evens. The network of haplogroup C4b (Figure 3) further illustrates the proximity of Evenks and Yakuts, who tend to fall upon the same branches with only one mutation between haplotypes (shown by asterisks in the figure), while the Evens tend to share branches with the Yukaghirs (indicated by arrows in the figure), confirming the genetic proximity of these populations that emerged in the analysis of shared haplotypes. This network also demonstrates that the Udegey C4b sequences originate from a central haplotype shared with several Evenks as well as a Yakut and a Buryat; haplotypes found in Evens also derive from this central node.

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Figure 2. MJ-network of mtDNA haplogroup C4a.

The North Tungusic haplotypes are coloured by population (Evenks and Evens) rather than subgroup. The size of the nodes is proportional to the number of individuals carrying that node, and the number of mutations is indicated along the branches. The labelled subhaplogroups are discussed in the text.

doi:10.1371/journal.pone.0083570.g002

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Figure 3. MJ-network of mtDNA haplogroup C4b.

The North Tungusic haplotypes are coloured by population (Evenks and Evens) rather than subgroup. The size of the nodes is proportional to the number of individuals carrying that node, and the number of mutations is indicated along the branches. The haplotypes marked by arrows and asterisks are discussed in the text.

doi:10.1371/journal.pone.0083570.g003

The network of different M and N subhaplogroups (Figure 4) clearly illustrates the distinctiveness of the Udegey, and suggests different affinities of the sequence types found in this population. The sequences belonging to subhaplogroups M9 and M7a2a are relatively close to sequences found in southern Siberian populations (Nyukzha Evenks, Buryats, Khamnigan, and Tuvan), while the M8 and N9b sequences are quite distinct, with only one sequence found in the Ulchi, another South Tungusic population of the Amur-Ussuri region, being shared with the largest Udegey N9b haplotype.

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Figure 4. MJ-network of various mtDNA M and N subhaplogroups.

The North Tungusic haplotypes are coloured by population (Evenks and Evens) rather than subgroup. The size of the nodes is proportional to the number of individuals carrying that node, and the number of mutations is indicated along the branches. Subhaplogroups discussed in the text are labelled.

doi:10.1371/journal.pone.0083570.g004

The network analyses also provide evidence of geneflow. The network of haplogroup D4 (Figure S1) demonstrates that the D4o2 sequence shared between Koryaks and Kamchatkan Evens (indicated by arrow 1 in the figure) is more likely to be due to gene flow from Kamchatkan Evens into Koryaks than the other way round, since haplogroup D4 is not at all characteristic of the populations of the Chukotka and Kamchatka Peninsulas. This network furthermore demonstrates that the Nivkh sequences belonging to subhaplogroup D4m2 stem from a haplotype shared with Yakuts (indicated by arrow 2 in Figure S1) and belong to the same branch as sequences found in Evenks, Evens, Yukaghirs, and South Siberian Buryats and Turkic speakers – all populations settled far to the north or west of the Nivkh. The network of D5a2 (Figure S2) demonstrates the effect of Yakut gene flow into neighbouring Tungusic populations: sequences belonging to this haplogroup are found especially in the Iengra Evenks, but are lacking from the Stony Tunguska Evenks, who are the most distant geographically from the Yakuts. Among the Even subgroups, it is found only in the Sakkyryyr Evens, a group that has already largely lost its indigenous Even language and now speaks Yakut.

The haplogroup A sequences found in the Stony Tunguska, Nyukzha, and Iengra Evenks, which belong to haplogroup A4, fall with other haplogroup A4 sequences from southern and western Siberian populations (Figure S3). They thus form part of the general geographic region of their provenance, although several mutations separate the Evenk haplotypes from those found in other populations. In contrast, the two Taimyr Evenk individuals, who carry an identical haplogroup A2a sequence, cluster with Koryak, Chukchi, and Eskimo individuals. Even though there is no direct sharing, only one mutation separates this haplotype from a sequence type found in Eskimo. In a previous study based only on HVR1 sequences, a Yakut-speaking Evenk from northwestern Yakutia (in the vicinity of the Taimyr Peninsula) was also found to carry an A2 sequence [14]. This is notable given the great geographic distances separating these populations.

Maternal population structure and genetic differentiation

As shown by the AMOVA analysis (Table 2), 9.5% of the total variance in the dataset is due to between-population differences. The proportion of the variance due to differences between four basic geographic groups (west, central, northeast, southeast) is smaller than the variance among the populations grouped by this criterion (4% vs. 6.3%), indicating that the geographic location of the populations has not had a major effect in shaping their genetic variation. This might be due to the extreme mobility of the nomadic North Tungusic groups. In contrast, grouping the populations by linguistic affiliation appears to provide a better fit to the data, with 6.7% of the variance being found between linguistic groups as compared to 4.5% between populations within groups. However, it should be noted that in this grouping there are four groups composed of only one population each (South Tungusic, Chukotko-Kamchatkan, Yukaghir, and Nivkh) – which excludes between-population variance – and is thus not comparable to the grouping based on geography.

percentage of variance
grouping criterion between groups between populations within populations
1 group (16 (sub)populations) 9.47** 90,53
4 geographic groups 4.01* 6.29** 89.71**
6 linguistic groups 6,66 4.54** 88.80**
1 group (Tungusic family) 8.39** 91,61
2 groups (N. Tungusic vs. S. Tungusic) 5,67 6.77** 87.55**
1 group (North Tungusic) 7.04** 92,96
2 groups (Evenks vs. Evens) -0,21 7.16** 93.05**
1 group (all Evenks) 8.28** 91,72
1 group (all Evens) 6.00** 94

Table 2. AMOVA analyses based on mtDNA ΦST values.

4 geographic groups: West (TAI, STE, NYUK, IENG, VIL_YAK), Central (SAK, SEB, TOM, CNTRL_YAK, NE_YAK), Northeast (BER, KAM, YUK, KOR), Southeast (UDI, NIV)
6 linguistic groups: North Tungusic (TAI, STE, NYUK, IENG, SAK, SEB, TOM, BER, KAM), South Tungusic (UDI), Turkic (VIL_YAK, CNTRL_YAK, NE_YAK), Chukotko-Kamchatkan (KOR), Yukaghir, Nivkh
* P-value < 0.05
** P-value < 0.01

When investigating only the Tungusic populations (Evens, Evenks, and Udegey), 8.4% of the variance is due to differences between (sub)populations. Only 5.7% of the variance can be explained by differences between groups when comparing the North Tungusic populations (Evens and Evenks) with the South Tungusic Udegey, with 6.8% of the variance being found between populations in each group. With respect to the North Tungusic populations, 7% of the variation is due to differences between subgroups. That these are due to differences among the individual Evenk and Even subgroups, and not to differences between the Evenk and Even populations, is demonstrated by the non-significant and negative proportion of variance due to between-group differences when comparing Evenks with Evens, while the proportion of between-population variance is highly significant and quite high when comparing only the Evenk subgroups (8.3%) and only the Even subgroups (6%) (Table 2).

In a three-dimensional MDS plot based on pairwise ΦST values, the Nivkh and Udegey are the biggest outliers (Figure 5, Figure S4 and Figure S5), with all the other populations clustering fairly closely in the first and second dimension (Figure 5). It is noteworthy that neither the Evenk nor the Even subgroups cluster together in the first or second dimension; in the third dimension, however, the Evenks are in relative proximity to each other. There is geographic clustering among the Even subgroups in the second dimension: the westernmost Sebjan and Sakkyryyr Evens are proximal to each other, as are the easternmost Kamchatkan and Berezovka Evens, and the Tompo Evens are located in an intermediate position. Nevertheless, the Tompo Evens are closer to the Yukaghirs than to other Even subgroups, as has been observed previously [15] (where the Tompo Evens were called Central Evens); the Kamchatkan Evens are close to the Koryaks in the first and second dimension, although the third dimension separates the Koryaks.

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Figure 5. Dimensions 1 vs. 2 of a three-dimensional MDS analysis.

Based on pairwise ΦST values between populations; stress = 0.06. (Sub)population abbreviations as in Table 1, with colours distinguishing the different populations: green = Evenks, red = Evens, pink = Udegey, blue = Yakuts, olive = Yukaghirs, orange = Koryaks, black = Nivkh.

doi:10.1371/journal.pone.0083570.g005

In a correspondence analysis (CA) based on the frequencies of basic haplogroups at the level of resolution shown in Figure 1, the distinct position of the Nivkh and Udegey due to their high frequencies of haplogroups Y1a and various M and N subgroups, respectively, causes all the other populations to cluster together (not shown). When excluding the Nivkh and Udegey, a central cluster is discernible (Figure 6), with the Koryaks, Berezovka Evens, and Kamchatkan Evens in outlying positions. Although the CA slightly distinguishes clusters of different North Tungusic subgroups, such as the Nyukzha and Iengra Evenks, or the Tompo and Sebjan Evens with the Taimyr Evenks, overall this plot illustrates the common haplogroup composition present in the central Siberian Evens and Evenks.

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Figure 6. CA plot.

Based on mtDNA haplogroup frequencies at the level of resolution depicted in Figure 1, excluding Nivkh and Udegey. (Sub)population abbreviations as in Table 1, with colours distinguishing the different populations: green = Evenks, red = Evens, blue = Yakuts, olive = Yukaghirs, orange = Koryaks; haplogroups in grey.

doi:10.1371/journal.pone.0083570.g006

A Mantel test of correlations between mtDNA ΦST and geographic distances reveals that this correlation is not significant when considering all populations (Table 3), in good accordance with the results of the AMOVA analysis. The correlation between the geographic and genetic distances among the Evenk and Even populations is also not significant; neither is the correlation only for the Evenks or Evens. However, the correlation is significant for the Even subgroups when excluding the Sakkyryyr Evens (Table 3), confirming the geographic cline apparent in the MDS plot (Figure S4).

comparison r P
all populations 0,24 0,12
Evens_Evenks 0,07 0,38
all Evenks 0,12 0,41
all Evens 0,46 0,11
4 Evens (no SAK) 0,71 0,04

Table 3. Results of Mantel tests between mtDNA ΦST and geographic distances.

Bayesian Skyline Analysis of mtDNA sequences

The Bayesian Skyline plots show three different patterns, illustrated here with the Yakuts (Figure 7A), the Evens (Figure 7B), and the Udegey (Figure 7C); the plots for the Evenks, Yukaghirs, Koryaks, and Nivkh are included in the Material (Figure S6). In the Yakuts, there is a notable decline in population size 3000-5000 years ago (ya) followed by a sharp increase ~1000 ya. This contrasts with the Evenks and Evens, where a notable decline in population size 1000-2000 ya is not followed by an increase. The Udegey, Yukaghirs, Nivkh, and Koryaks all have relatively flat curves with at most a gentle decline close to the present. Furthermore, the effective population size of the Yakuts, Evenks, and Evens is larger than that of the Udegey, Yukaghirs, Nivkh, and Koryaks.

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Figure 7. Bayesian Skyline Analysis plots.

Based on complete mtDNA genome sequences and a strict clock model. A: All Yakuts; B: All Evens; C: Udegey.

doi:10.1371/journal.pone.0083570.g007

Y-chromosome analyses

As can be seen in Table 4, haplogroup C3c1 (defined by SNP M86) is the most frequent Y-chromosomal haplogroup found in both the Evenks (56.6%) and the Evens (48.3%). As with the mtDNA haplogroup composition, there are notable differences between subgroups. The Taimyr Evenks, Stony Tunguska Evenks, and Tompo Evens carry high frequencies of haplogroup N1b (38.9%, 27.5%, and 42.9%, respectively), which is otherwise found at low frequency only in the Sakkyryyr Evens. Haplogroup N1c, which is highly characteristic of Yakuts [14,17], is found at very high frequency in the two western Even subgroups Sakkyryyr (76%) and Sebjan (64.3%) and in high frequency in the Iengra Evenks (22.2%) and Nyukzha Evenks (20.5%). In contrast, the eastern Even subgroups Berezovka and Kamchatka carry only haplogroup C3c1.

population N C* C3* C3c* C3c1 F* I* J2* N1b* N1c O* Q1* R1a* R1a1* reference
all Evenk 127 13 2 82 1 5 1 18 18 1 4
TAI 18 8 7 3 this study
STE 40 28 1$ 11 Pakendorf et al. 2006
NYUK 78 13 n/a 42 1 4 1 16 1 Karafet et al. 2002
IENG 9 2 4 2 1$$ Pakendorf et al. 2007
all Even 89 1 1 1 43 13 30
SAK 25 1 4 1 19 Pakendorf et al. 2007, this study
SEB 14 1 4 9 Pakendorf et al. 2007, this study
TOM 28 1 13 12 2 Pakendorf et al. 2007, this study
BER 7 7 this study
KAM 15 15 this study
all Yakut 184 3 1 1 1 173 1 4 Pakendorf et al. 2006
Yukaghir 13 1 1 2 1 4 4 Pakendorf et al. 2006

Table 4. Y-chromosomal haplogroup frequencies.

$ note that in the original publication, this STE individual had been erroneously genotyped as belonging to haplogroup F; retyping showed he belonged to haplogroup I-M170
$$ note that in the original publication, this IENG indivudal had been erroneously genotyped as belonging to haplogroup K; retyping showed he belonged to haplogroup O-M175

In a network of Y-STR haplotypes belonging to haplogroup C3c based on nine STRs and including published data, three major haplotypes are apparent in C3c1 (Figure 8). One of these consists entirely of Evenk individuals from different subgroups as well as Yakut-speaking Evenks from northwest Yakutia, in direct neighbourhood to the Taimyr Peninsula; one consists entirely of eastern Evens (Berezovka and Kamchatka) plus one Koryak individual, and the third consists of Even individuals from all five subgroups plus Yukaghirs and one Northeastern Yakut. Only one haplotype, belonging to subgroup C3c* (defined by the derived state at M48 and the ancestral state at M86, marked by an arrow in Figure 8), is shared between Evenks and Evens (the Iengra and the Sakkyryyr subgroup, respectively) as well as Yukaghirs. This parallels the findings of the mtDNA haplotype sharing analyses, where only three haplotypes were shared between Evenks and Evens that were not also shared with Yakuts or Yukaghirs.

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Figure 8. MJ-network of Y-chromosomal haplogroup C3c.

Based on nine Y-STRs. The North Tungusic haplotypes are coloured by subgroup. The size of the nodes is proportional to the number of individuals carrying that node, and the number of mutations is indicated along the branches. The haplotype marked by an arrow is discussed in the text. Note that the placement of the Taimyr Evenk haplotype #8 as undertaken by Network is erroneous; as evident from Table S3, this haplotype is only two mutational steps distant from haplotype #10, also labelled in the figure.

doi:10.1371/journal.pone.0083570.g008

As becomes apparent from the network of STR haplotypes belonging to haplogroup N1b (Figure 9), the 13 Evens carry only one haplotype, which is shared with Stony Tunguska Evenks; it is also found in one Yakut and one Tuvan. There is somewhat more diversity in the Evenks, with four different haplotypes, of which three are found in the Stony Tunguska Evenks, and two are found in the Taimyr Evenks; only one haplotype is shared between the two Evenk subgroups. The haplotypes found in the Turkic-speaking Tuvans from southern Siberia are distinct from those found in the Tungusic-speaking Evenks and Evens, with the exception of one individual who carries the haplotype also found in Evenks and Evens.

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Figure 9. MJ-network of Y-chromosomal haplogroup N1b.

Based on nine Y-STRs. The North Tungusic haplotypes are coloured by subgroup. The size of the nodes is proportional to the number of individuals carrying that node, and the number of mutations is indicated along the branches.

doi:10.1371/journal.pone.0083570.g009

The network of STR haplotypes belonging to haplogroup N1c is highly complex with several multidimensional cycles (Figure 10). As seen previously [15], the network is dominated by haplotypes found in the Yakuts and the Yakut-speaking Evenks. The most common Yakut haplotype is shared by seven Sakkyryyr and two Sebjan Evens as well as one Iengra Evenk; the second most common Yakut haplotype is shared by two Sebjan Evens and one Iengra Evenk. A further haplotype is shared by one Yakut, one Tompo and one Sebjan Even. A small portion of the network completely lacks Yakut individuals; this is removed from the closest Yakut haplotypes by at least two mutational steps. This contains a haplotype found in one Sebjan and 10 Sakkyryyr Evens, a haplotype shared by Koryaks and Tuvans, and a Yukaghir haplotype. Thus, the network analysis of haplogroup N1c demonstrates that both the Iengra Evenk haplotypes are shared with Yakuts, as are one out of two Tompo Even, five out of eight Sebjan Even, and seven out of 18 Sakkyryyr Even haplotypes. Furthermore, one Tompo and one Sakkyryyr Even haplotype differ by only one mutational step from Yakut haplotypes.

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Figure 10. RM-MJ network of Y-chromosomal haplogroup N1c.

Based on nine Y-STRs. The North Tungusic haplotypes are coloured by subgroup. The size of the nodes is proportional to the number of individuals carrying that node, and the number of mutations is indicated along the branches.

doi:10.1371/journal.pone.0083570.g010

Discussion

Relationships of Tungusic populations

The major hypotheses about the origins of the North Tungusic Evenks and Evens postulate either a deep split from the Tungusic peoples of the Amur-Ussuri region and a fairly ancient divergence of Evenks and Evens [4] or a much shallower divergence of Evenks and Evens and a fairly recent split of the Northern Tungusic and Amur Tungusic populations [5,6]. The results of the current investigation show that while the Evens and Evenks indeed stem from a common ancestral population, genetic drift and differential admixture with neighbouring but unrelated populations have played a role in shaping their diversity, as was already found in a previous study [15].

The shared paternal ancestry is apparent in the high frequencies of Y-chromosomal haplogroup C3c1 which characterise these populations, cf. [15,17,22,23]. The shared maternal ancestry of Evenks and Evens is evident in the presence at relatively high frequency of mtDNA haplogroups C4a, C4b, and D4, which leads to a lack of differentiation of most subgroups in the CA plot, and especially in the non-significant and negative between-group variance in the AMOVA analysis comparing Evenks with Evens. The effect of drift can be seen in the low mtDNA diversity in these populations as well as by their scattered location in the MDS analysis. The effect of gene flow is evident in the affinities of Evenks with Yakuts, and Evens with Yukaghirs emerging in the networks of mtDNA haplogroups C4a and C4b and the haplotype sharing analysis, as well as in the sharing of haplotypes belonging to Y-chromosomal haplogroup N1c with Yakuts.

These differential effects of drift and admixture have resulted in significant differences between individual Evenk and Even subgroups, as demonstrated by the AMOVA analysis (Table 2). Surprisingly, these differences are larger among the Evenk subgroups than among the Even subgroups, even though the latter are more widely dispersed geographically. Together with the significant correlation between geographic and genetic distances for four of the Even subgroups (Table 3), this might be an indication that the break-up of the ancestral Even population occurred at a later time than that of the Evenk ancestral population, possibly as a direct result of the Yakut expansion. As for the paternal lineages, although all North Tungusic subgroups have high frequencies of Y-chromosomal haplogroup C3c1, there is no sharing of C3c1 haplotypes between Evenks and Evens, indicating a fairly deep split between these populations and lack of subsequent admixture (Figure 8). Using the rho statistic [27] implemented in Network and a mutation rate of 0.0025 per locus per generation [28], we estimate the age of the STR diversity shared by Evenks and Evens to be 1916 ± 985 years. The age of the STR diversity specific to Evens is estimated to be 615 ± 418 years, that specific to Evenks 303 ± 177 years. The split of the Even and Evenk populations is thus estimated to have taken place between approximately 1900 BP and 500 BP – an estimate which brackets both the time of divergence proposed by Vasilevich [4] (~1500 BP) and that proposed by Tugolukov [5] and Janhunen [6] (sometime after 800 BP and possibly as recently as 400 BP). In a study of haplogroup C Y-chromosomes in northern Asia, Malyarchuk et al. [29] date the split between the Evenk and Even haplotypes to either 1400 (± 1060) or 390 (± 290) years ago, depending on whether the evolutionary or the pedigree-based mutation rate is used. The question of which mutation rate to use is still not settled, but it has been suggested for mtDNA data that it is preferable to use the pedigree rate in studies of relatively recent history, while the phylogenetic rate is preferable in studies of deep history [30,31]. Furthermore, a previous study of Yakut origins using the same set of Y-chromosomal STRs [14] found that the age resulting from the pedigree-based mutation rate was more compatible with linguistic, historical, and archaeological data for the origins of the Yakuts. Taking these circumstantial arguments into account lends greater weight to the younger date estimated by Malyarchuk et al. [29] and thus favours the late split between the Evenks and Evens suggested by Janhunen [6] and Tugolukov [5], and contradicts the early split proposed by Vasilevič [4].

As to the Tungusic populations of the Amur-Ussuri region, in the maternal line the Udegey appear quite distinct from their linguistic relatives the Evenks and Evens with respect to their haplogroup composition (Table S1). Nevertheless, although the second dimension of an MDS analysis separates the Udegey from the Siberian populations, in the first and third dimension they cluster with Yakuts and the Iengra Evenks (Figure S4). Similarly, in the AMOVA analysis, less than 6% of the variance is due to differences between the South Tungusic Udegey and the North Tungusic Evenks and Evens, in contrast to nearly 7% of the variance found among the different North Tungusic subgroups (Table 2), indicating that there are some affinities of the Udegey with their linguistic relatives. A direct link between the Udegey and the Evenks is evident in mtDNA haplogroup C4b: as shown in the network (Figure 3), the Udegey haplotypes are derived from a sequence type that is shared with all the Evenk subgroups. Links between the Udegey and southern Siberian populations are also apparent in the presence of haplogroup M7 and M9 (Table S1, Figure 4). These are found at low frequency in Mongolic-speaking populations, Tuvans from southern Siberia, and the Ulchi, a South Tungusic population of the Amur river; furthermore, M7 is found in Koreans with a frequency of nearly 10% [10,32]. The high frequency of haplogroup N9b and the presence of haplogroup Y1a, however, connects the Udegey with other populations of the Amur-Ussuri region rather than Siberia, as also shown in another study: in a PC analysis based on frequencies of mtDNA subhaplogroups the Udegey cluster with the Nivkh and the South Tungusic Ulchi of the Amur-Ussuri region, as well as, at a slight distance, with the North Tungusic Negidal and the Kamchatkan Koryaks and Itelmen [10]. This might indicate that the Udegey resulted from admixture between indigenous populations of the Amur-Ussuri region, such as those represented by the prehistoric “Okhotsk people” [33], and Tungusic-speaking immigrants from southern Siberia. This hypothesis of large-scale mixing in the prehistory of the Udegey is further confirmed by their combination of very low sequence diversity, which is as low as that found in the Nivkh, with intermediate levels of nucleotide diversity (Table 1). Alternatively, the shared haplotypes found in the Evenks and Udegey might be retentions from an earlier shared ancestral population; this would be in accordance with the proposed origin of the Tungusic languages and populations in the Amur region [6].

Gene flow in the history of individual North Tungusic subgroups

With respect to the individual North Tungusic subgroups, the Taimyr Evenks stand out in showing connections in the maternal line with populations far to the east, notwithstanding their settlement in northwestern Siberia. Thus, two individuals carry a sequence type belonging to mtDNA haplogroup A2a, which is practically absent in western and central Siberia, but found in high frequency in the Siberian Eskimos and Chukchi and in low frequency in Koryaks and Chuvantsi, all populations settled far to the east of the Taimyr Peninsula [10,34]. Another haplogroup that links the Taimyr Evenks with more easterly populations is Y1a, present in 12.5% of the Taimyr Evenks, but in no other Evenk subgroup of our sample. This haplogroup is found in very high frequency in the Nivkh (65.8%); it is also found in the Udegey and in the eastern Even subgroups Kamchatka and Berezovka (Table S1). It is furthermore present in high frequency in the Ulchi and Negidal, Tungusic populations of the Amur-Ussuri region and in 9%-10% in eastern Evenks as well as Koryaks from Kamchatka [10,20,32], as well as in low frequency in Central and Vilyuy Yakuts [17] (Table S1). How the presence of these haplogroups of far eastern provenance can be explained among the Taimyr Evenks is not clear; they are not found in their neighbours on the Taimyr Peninsula, the Turkic-speaking Dolgans or the Samoyedic Nganasan [10,17]. In their paternal lineages, the Taimyr Evenks do not differ from the Stony Tunguska Evenks, who are settled to their south: they have high frequencies of haplogroups C3c and N1b, and share three out of five C3c-STR haplotypes with the Stony Tunguska and Iengra Evenks and one of their two N1b-STR haplotypes. In addition, they show evidence of European admixture in the paternal line: three individuals carry haplogroup R1a (Table 4).

The Iengra Evenks are settled in the south of Yakutia in a region where intense contact and intermarriage between Yakuts and Evenks has been recorded [35], and they show clear evidence of Yakut admixture in both the paternal and the maternal line, sharing two Y-chromosomal N1c-STR haplotypes and two out of three mtDNA haplogroup D5a2a2 sequences with Yakuts. Although they are separated in the second dimension of the MDS analysis, probably in result of genetic drift [15], their close maternal affinities with their linguistic and geographic neighbours, the Nyukzha Evenks, are evident in the four haplotypes (31% of the Iengra mtDNA haplotypes) shared exclusively with the latter (Table S2).

The Sakkyryyr Evens also show evidence of Yakut admixture in both the maternal and the paternal lines. Thus, rather than clustering with their closest geographic and linguistic neighbours, the Sebjan Evens, they are pulled towards the Yakuts in the MDS and CA plots, and they share nine out of their 19 mtDNA haplotypes (47.4%) with the Yakuts, four of these uniquely (Table S2). Two of these belong to haplogroup F1b and one to haplogroup M7, which are characteristic of populations of southwestern and southern Siberia rather than those of northeastern and central Siberia [10,18,32,3638]. Furthermore, one shared haplotype belongs to haplogroup D5a2a2, which is characteristic of the Yakuts. This indicates that the direction of gene flow in these cases is likely to have been from Yakuts – who retain a signature of their southern origins [14,17] – into the Sakkyryyr Evens. This Yakut maternal admixture might explain the high sequence and nucleotide diversity values found in the Sakkyryyr Evens in comparison to other North Tungusic subgroups (Table 1). Likewise, the network analysis of Y-chromosomal haplogroup N1c (Figure 10) provides a clear indication of gene flow from Yakuts into the Sakkyryyr Evens, in that seven STR haplotypes are shared with Yakuts, with an additional haplotype separated by only one mutational step. Furthermore, a haplotype that was not included in the analysis because of a duplication in DYS393 is also shared with Yakuts (with the exception of the duplication [15]). Thus, 32% – 36% of the Sakkyryyr Even Y-chromosomes are most likely to be of Yakut origin. This indicates that the Sakkyryyr Even population incorporated entire Yakut communities, both men and women, during their history, and this might partly explain why the Sakkyryyr Evens have given up their North Tungusic language in favour of Yakut.

In contrast, the neighbouring Sebjan Evens do not show evidence of substantial amounts of Yakut gene flow in the maternal line: they are located at a distance from the Yakuts in the MDS plot and cluster with the Taimyr Evenks and the Tompo Evens in the CA analysis. Furthermore, they share only three of their eight haplotypes (37.5%) with Yakuts, none uniquely, and two of these shared haplotypes belong to haplogroups C4a1c and D4l2 characteristic of North Tungusic populations (Table S2). These shared haplotypes found in the Sebjan Evens might therefore be due to maternal Tungusic admixture into Yakuts during the expansion of the latter [14]. However, the proportion of Yakut male admixture in the Sebjan Evens is higher than that detected in the Sakkyryyr Evens: five Y-STR haplotypes belonging to haplogroup N1c are directly shared with Yakuts, and two more are separated from a common Yakut haplotype by two mutational steps. Furthermore, a haplotype not included in the network analysis because it contained a duplication at DYS393 is also shared with Yakuts (again excluding the duplication [15]). This indicates that approximately half (43% – 57%) of the Sebjan Even paternal genepool is of Yakut origins and indicates male-biased admixture from Yakuts to Evens rather than the incorporation of both maternal and paternal lineages detected in the Sakkyryyr Evens. Interestingly, although the Sebjan Evens have retained their Even language, this has undergone striking changes under the influence of Yakut [39].

The Tompo Evens are close to Yukaghirs in the MDS analysis based on mtDNA sequences, as was seen previously [15] (where this subgroup was called Central Evens). However, only two haplotypes are shared between Tompo Evens and Yukaghirs, and these are also shared with Stony Tunguska, Nyukzha, and Iengra Evenks and Kamchatkan Evens (Table S2). In the paternal line, the Tompo Evens are characterized by high frequencies of Y-chromosomal haplogroup N1b (Table 4), with all the individuals belonging to this haplogroup carrying a STR haplotype that is shared with Evenks. This haplogroup is found at highest frequency in the Samoyedic-speaking populations of northwestern Siberia, the Nganasan, Enets, and Nenets [22,24], and in high frequency in some Turkic-speaking populations of southern Siberia [26]. It is furthermore characteristic of North Tungusic populations of western Siberia, but is absent in those of the east: it is found in 39% in the Taimyr Evenks and 27.5% in the Stony Tunguska Evenks (Table 4), in 16.7% in a sample of ‘Western Evenks’ and in 24.4% in a geographically undefined sample of ‘Evenks’, but in only 2.5% in Chinese Evenks and is absent in Eastern Evenks, Evens, and Oroqen, who are closely related culturally and linguistically to Evenks [22,26]. The presence of this haplogroup in the Tompo Evens therefore appears indicative of paternal gene flow from Evenks. However, it is intriguing that this Evenk admixture led only to an incorporation of Y-chromosomal haplogroup N1b in the Tompo Evens, without any C3c1 Y-chromosomes being transferred. Possibly this presumed admixture event was restricted to one individual, with subsequent expansion of his Y-chromosomal lineage, as indicated by the fact that all the Tompo Evens carrying haplogroup N1b share the same STR haplotype.

The mtDNA haplogroup composition of the eastern Even subgroups, Berezovka and Kamchatka, with substantial frequencies of the characteristic eastern Siberian and Kamchatkan mtDNA haplogroups G1, Y1a and Z [10,20], indicates a certain amount of admixture with local populations during their eastward expansion. In contrast, their Y-chromosomal genepool consists solely of haplogroup C3c1, which is typical of North Tungusic populations, indicating that these interactions with local groups were biased towards the female line [15]. On Kamchatka, although the Evens have 15.4% of mtDNA haplogroup G1, which is found in very high frequencies in Kamchatkan Koryaks and Itelmen [20], there is no direct evidence for recent gene flow from Koryaks into the Even population. In contrast, gene flow from Evens into Koryaks can be shown to have taken place, both in the presence of a shared sequence type belonging to mtDNA haplogroup D4 and in the sharing of a Y-chromosomal haplotype belonging to haplogroup C3c1.

Demographic history of the populations

The mtDNA diversity values and Bayesian Skyline analyses (Table 1, Figure 7, Figure S6) show substantial differences in demographic history between the populations included in this study. The Yakuts stand out as having higher diversity values than most of the other populations; this is in good accordance with their much larger census population size in comparison to that of the other populations (478,000 Yakuts vs 38,000 Evenks, 21,000 Evens, 1500 Udegey, 1600 Yukaghir, 4600 Nivkh, and 7900 Koryaks in 2010 [40]). They furthermore show an increase in population size approximately 1000 years BP (Figure 7A); this fits with previous estimates based on the Y-chromosome and mtDNA [14,41] and is also in relatively good accordance with archaeological data showing that the ancestors of the Yakuts migrated to the north in the 13th or 14th centuries CE [42,43]. The Evenk and Even subgroups generally have lower diversity values than the Yakuts, with the exception of the Sakkyryyr Evens. The Udegey, Yukaghirs, Nivkh, and Koryaks, who are traditionally predominantly sedentary hunter-gatherers and especially fishermen, all have relatively low mtDNA diversity values and basically flat BSP curves with a lower effective population size than that found in the Evenks and Evens and especially Yakuts. This pattern, which indicates that they have had a constantly low effective population size, differs from the pattern found in the North Tungusic populations, who not only have a higher effective population size, but where a slight increase is apparent before the recent decline. This might reflect the differences in life-style between the sedentary hunter-gatherers and the nomadic Evenks and Evens, whose exceptional mobility would have increased their pool of potential spouses. The decline in population size evident in the BSPs for the Evens and Evenks overlaps the increase appearing in the Yakuts; it is therefore possible that the northward expansion of the Yakuts resulted in a decrease in population size of the North Tungusic populations.

Conclusions

Our analysis of complete mtDNA genome sequences and Y-chromosomal SNP and STR variation has revealed a differentiated picture of the relationships among Tungusic populations. Although the Amur Tungusic Udegey are linguistic relatives of the North Tungusic Evenks and Evens, in the maternal line most traces of their possible genetic relationship have been erased by the effects of drift and admixture both in the Siberian populations as well as in the Udegey. As to the Evenks and Evens, while they retain evidence of their shared ancestry, admixture with neighbouring populations, especially in the maternal line, has led to their genetic differentiation. In-depth investigations of the autosomal variation in these populations will enable deeper insights into their population history and relationships among each other and with other populations of Siberia.

Boris Malyarchuk and Miroslava Derenko, et al., Mitogenomic Diversity in Tatars from the Volga-Ural Region of Russia

  1. Mol Biol Evol (2010) 27 (10):2220-2226.doi: 10.1093/molbev/msq065

Abstract

To investigate diversity of mitochondrial gene pool of Tatars inhabiting the territory of the middle Volga River basin, 197 individuals from two populations representing Kazan Tatars and Mishars were subjected for analysis of mitochondrial DNA (mtDNA) control region variation. In addition, 73 mitochondrial genomes of individuals from Mishar population were sequenced completely. It was found that mitochondrial gene pool of the Volga Tatars consists of two parts, but western Eurasian component prevails considerably (84% on average) over eastern Asian one (16%). Eastern Asian mtDNAs detected in Tatars belonged to a heterogeneous set of haplogroups (A, C, D, G, M7, M10, N9a, Y, and Z), although only haplogroups A and D were revealed simultaneously in both populations. Complete mtDNA variation study revealed that the age of western Eurasian haplogroups (such as U4, HV0a, and H) is less than 18,000 years, thus suggesting re-expansion of eastern Europeans soon after the Last Glacial Maximum.

The Volga Tatars live in the central and eastern parts of European Russia and in western Siberia. They are the descendants of the Bulgar and Kipchak Turkic tribes who inhabited the western wing of the Mongol Empire, the area of the middle Volga River (Khalikov 1978; Kuzeev 1992). The Volga Bulgars settled on the Volga in the eighth century, where they mingled with Scythian- and Finno-Ugric-speaking peoples. After the Mongol invasion, much of the population survived and mixed with the Kipchak Tatars. Thus, in the Golden Horde time, the middle Volga River region became a melting pot of different people. In the 16th century, this area was conquered by “Ivan” the Terrible, first Tsar of Russia. Anthropologically, about 80% of the Volga Tatars belong today to Caucasoids and 20% to Mongoloids (Khalikov 1978). Linguistically, they speak language of a distinct branch of the Turkic group, within the Altaian family of languages.

According to results of studies of mitochondrial DNA (mtDNA) variation in populations of the Volga-Ural region, Tatars show intermediate frequencies of haplogroups characteristic of eastern Eurasia (about 12%) in relation to ethnic groups with highest (Finno-Ugric-speaking Udmurts and Komi-Permyaks and Turkic-speaking Bashkirs) and low (Finno-Ugric-speaking Mordvins, Mari, and Komi-Zyryans) frequencies of eastern Asian mtDNAs (Bermisheva et al. 2002). The presence of such mtDNAs in the mitochondrial gene pools of the Volga-Ural indigenous peoples suggests a substantial role of Siberian and central Asian populations in ethnic history of the Volga-Ural region. This region is also very important being a source of migration of eastern Europeans to the north of Europe. Genetic studies have shown that the Volga-Ural region may be a probable source for Saami and Finnish mitochondrial diversity because of the presence of some mtDNA haplogroups characteristic to the Volga-Ural populations (U5b1b1, V, and Z1a) in Fennoscandia (Ingman and Gyllensten 2007). Meanwhile, molecular genetic data indicate multiple migrations from the east to the north of Europe, the first being 6.0–7.0 ka ago and at least one additional migration 2.0–3.0 ka ago (Ingman and Gyllensten 2007).

Although there are several examples of research on the Volga Tatar populations (Bermisheva et al. 2002; Orekhov 2002; Kravtsova 2006), only mtDNA hypervariable segment (HVS) I sequences and coding region restriction fragment length polymorphisms (RFLPs) have been analyzed in these populations, and there are no studies performed at the level of complete mitochondrial genome resolution. Meanwhile, further development of phylogeographic studies in Europe requires a considerable enlargement of databases of the complete mitochondrial genomes in large population samples. Here, we present an analysis of the complete mtDNAs of the Volga Tatars, with the purpose of studying their genetic diversity.

Materials and Methods

A population sample of 197 individuals from two areas of Republic of Tatarstan (Russian Federation), eastern (n = 71) (Aznakaevo) and western (n = 126) (Buinsk), was studied. Tatars from Aznakaevo belong to a group of Kazan Tatars, whereas Tatars from Buinsk belong to a group of Mishars. The Kazan Tatars and the Mishars are two major groups among the Volga Tatars, which are characterized by linguistic and ethnogenetic particularities (Kuzeev 1992).

mtDNA Haplogroup Frequencies

In 197 individuals representing two populations of the Volga Tatars—the Kazan Tatars from Aznakaevo and the Mishars from Buinsk—we sequenced the mtDNA control region (between nps 15997 and 16526) (supplementary table S1, Supplementary Material online). Haplogroups were identified by means of RFLP analysis of the mtDNA-coding region. In general, 27 haplogroups were revealed in two populations studied (table 1). Most mtDNA haplotypes were assigned to western Eurasian haplogroups at frequencies of 76% in Aznakaevo population and 88% in Buinsk population. In Tatars, eastern Asian component seems to be heterogeneous, although only haplogroups A and D were revealed simultaneously in both populations. Western Eurasian haplogroups H, J, U4, and W were among the most common haplogroups in Tatar samples (table 1). Table 2 shows haplogroups frequency distribution in Tatars in comparison with neighboring eastern European populations, such as Bashkirs, Chuvash, Mari, Mordvins, Udmurts, Karelians, and Russians. Some differences between Tatar samples investigated in different studies can be revealed—for instance, the lower frequency of haplogroup U5 or higher frequency of haplogroups W and D in our sample (P < 0.05, t-test). However, frequency of eastern Asian mtDNAs was similar in both samples (16.2% and 12.8% in our and Bermisheva et al.’s [2002] study, respectively), thus placing Tatars between the Volga-Ural region populations with high (>20% in Bashkirs and Udmurts) and moderate (<10% in Chuvash, Mari, and Mordvins) frequencies of eastern Asian mtDNA component (table 2).

Topology of mtDNA Phylogenetic Networks in Tatars

The median network of 73 complete mtDNA sequences is shown in supplementary figure S1 (Supplementary Material online). This tree was constructed based on the existing classification of mtDNA haplogroups (van Oven and Kayser 2009). As seen in the tree, the majority of mtDNAs belong to a singular haplotypes within already known subhaplogroups. Specific subclusters of mtDNA haplotypes were revealed only in several cases—for W3 (two haplotypes), V1a (two), T2b* (three), U4b1b (two), U4d1 (two), and U4d as a whole (four).

However, some of the singular haplotypes appear to be informative for further development of mtDNA classification. Sample 23_Tm could be assigned to A10 according to nomenclature suggested by van Oven and Kayser (2009). However, phylogenetic analysis of complete mtDNAs (fig. 1) reveals that this sample belongs to haplogroup A8, which is defined now by transition at np 64 and consists of two related groups of lineages—A8a, with control region motif 146-16242 (previously defined as A8 by Derenko et al. [2007]), and A8b, with motif 16227C-16230 (supplementary table S3, Supplementary Material online). Analysis of HVS I and II sequences in populations indicates that transition at np 64 appears to be a reliable marker of haplogroup A8 (supplementary table S3,Supplementary Material online). The only exception, the probable back mutations at nps 64 and 146, has been described in Koryak haplotype EU482363 by Volodko et al. (2008). Therefore, parallel transitions at np 64 define not only Native American clusters of haplogroup A2, that is, its node A2c’d’e’f’g’h’i’j’k’n’p (Achilli et al. 2008; van Oven and Kayser 2009), but also northern Eurasian haplogroup A8. Both A8 and subhaplogroups are spread at relatively low frequencies in populations of central and western Siberia and in the Volga-Ural region. A8a is present even in Transylvania at frequency of 1.1% among Romanians, thus indicating that the presence of such mtDNA lineages in Europe may be mostly a consequence of medieval migrations of nomadic tribes from Siberia and the Volga-Ural region to Central Europe (Malyarchuk et al. 2006;Malyarchuk, Derenko, et al. 2008).

FIG. 1.

Complete mtDNA sequence-based phylogenetic tree of haplogroup A8. The tree is rooted in haplogroup A. Numbers along links refer to substitutions scored relative to the revised Cambridge reference sequence (Andrews et al. 1999). Transversions are further specified, and back mutations are underlined. Three additional complete sequences were taken from the literature (Starikovskaya et al. 2005; Derenko et al. 2007; Volodko et al. 2008) and designated by ES, MD, and NV, respectively, followed by “#” and the original sample code.

Another case requiring further phylogenetic specification is haplogroup N1c. We have sequenced N1c haplotype of individual 56_Tm and found that transition at np 11914 should be added to haplogroup-specific motif indicated in PhyloTree (van Oven and Kayser 2009). This is because two individuals belonging to two different branches of N1c share this mutation (supplementary fig. S2, Supplementary Material online). In addition, in haplogroups Y1b and T2f1, we have found that Tatar mtDNAs had shortcut haplogroup motifs, with a lack of transitions at nps 15221 for Y1b and 15028 for T2f. Taking into account that 15221 is a fairly conserved nonsynonymous mutation and 15028 is even more rare (with zero occurrences in 2,196 complete mitochondrial genomes surveyed by Soares et al. [2009]), one can assume that their haplogroup-specific motifs should be shortened.

Haplogroup U4 is one of the most frequent in populations of the Volga-Ural region and western Siberia (Bermisheva et al. 2002; Derbeneva, Starikovskaya, Volodko, et al. 2002; Derbeneva, Starikovskaya, Wallace, et al. 2002; Naumova et al. 2008). In Tatars, we sequenced ten mitochondrial genomes and found that they fall into three subhaplogroups—U4a, U4b, and U4d. Four sequences belong to U4a1*, U4a2b, and U4a2c1 subclusters (supplementary fig. S1, Supplementary Material online). Figure 2 demonstrates that haplotypes of two Tatar individuals 105_Tm and 115_Tm are clustered together with Slovak haplotype from our previous study (Malyarchuk, Grzybowski, et al. 2008) into subhaplogroup U4b1b. Haplogroup U4d could be subdivided into two subhaplogroups: U4d1 characterized by transition at np 2772 and U4d2 defined by motif 5567-10692-11326-11518-13105. Haplotypes of two Tatar individuals 58_Tm and 9_Tm are clustered with two Russians into subcluster U4d1, whereas Tatar (12_Tm and 15_Tm) and Czech haplotypes are combined into subcluster U4d2 (fig. 2).

FIG. 2.

Complete mtDNA sequence-based phylogenetic tree of subhaplogroups U4b and U4d. The tree is rooted in haplogroup U4. Numbers along links refer to substitutions scored relative to the revised Cambridge reference sequence (Andrews et al. 1999). Additional complete sequences were taken from the literature (Malyarchuk, Grzybowski, et al. 2008) and designated by BM followed by “#” and the original sample code. For subhaplogroups U4b1a and U4b2, only diagnostic mutations are shown.

Using the complete sequence and the synonymous mtDNA clocks (Soares et al. 2009), the coalescence age for 61 mitochondrial genomes of haplogroup U4 (from the present and our previous study) is ∼17.0 ka ago (table 3). Coalescence time estimates for subhaplogroups vary from 13.0 to 16.0 ka ago for mutation rate based on complete mtDNA variability and from 7.0 to 21.0 ka ago for synonymous mutation rate. Neutrality testing demonstrates that selection does not influence on variability of haplogroup U4 in eastern Europe (Ni = 0.46, P > 0.1).

View this table:

Table 3.

Age Estimates of mtDNA Haplogroups U4, H, HV0a, and V with ρ and from Two Different Molecular Clocks.

Previous studies have shown that the Volga-Ural region has an important role in the peopling of the northeast of Europe. It has been found that some Saami and Finnish mtDNA lineages (such as haplogroups U5b1b1, V, and Z1a) shared a common ancestor with lineages from the Volga-Ural region (Tambets et al. 2004; Achilli et al. 2005; Ingman and Gyllensten 2007). The divergence time for the Saami and Finnish haplogroup V sequences was estimated as 7.6 ka ago and for U5b1b1 as 5.5–6.6 ka ago (Ingman and Gyllensten 2007). Much lower age of haplogroup Z1a (2.7 ka ago) suggests also a more recent contribution of people from the Volga-Ural region to the Saami gene pool. In the present study, we sequenced five mitochondrial genomes of Tatars belonging to haplogroup HV0, so these additional data appear to be useful for molecular dating of haplogroup V. We analyzed 32 published haplogroup V mitochondrial genomes from populations of Finns and Saami (Finnilä et al. 2001; Ingman and Gyllensten 2007) and three novel genomes from populations of Russians and Czechs (EU567453-EU567455) (supplementary fig. S3,Supplementary Material online). As a result, we have found that three mtDNAs of Tatars fall into subcluster V1a that is very frequent among Finns (Finnilä et al. 2001). It is noteworthy that Tatars and Finns share mtDNAs from this subcluster on a large time span—from 7.9 and 2.8 ka ago (for complete genome and synonymous rates, respectively) for subcluster V1a to 0.85 ka ago and even less (for complete genome and synonymous rates) for small subcluster V1a1a1 (table 3). In addition, analysis of subcluster V3a demonstrates that divergence between Russian/Finnish mtDNAs is estimated as 4.8 and 7.9 ka ago (for complete genome and synonymous rates, respectively).

Based on complete mtDNA variation of eastern Europeans (for 40 mitochondrial genomes from populations of Finns, Saami, Tatars, Russians, and Czechs), haplogroup HV0a dates to ∼14.5 ka ago, fitting the time of expansion from European glacial refuge zones (the Franco-Cantabrian, Balkan, and Ukrainian ones) (table 3). Meanwhile, haplogroup V (39 genomes of eastern Europeans) dates to 11.8 ka ago for complete genome rate and to 6.9 ka ago for synonymous rate, that is, somewhat less than previously reported dating results for haplogroup V in Europe—13.7 (12.1–15.2) ka ago for complete genome rate and 12.2 (10.0–14.3) ka ago for synonymous rate (Soares et al. 2009).

Conclusions

In summation, mitochondrial gene pool of the Volga Tatars is characterized by high level of diversity and it can be seen as composite of both western and eastern Eurasian mtDNA haplogroups. In the Volga Tatars, there are no specific mtDNA clusters of eastern Asian origin, allowing us to suggest early presence of eastern Asians/Siberians in the Volga River basin. On the contrary, western Eurasian mtDNA lineages appear to be very diverse. The age of haplogroups U4 and HV0a, which is less than 18.0 ka ago, suggests re-expansion of eastern Europeans soon after the Last Glacial Maximum, as does the age of haplogroup H, which dates to ∼17.0 ka ago based on mtDNA diversity in Tatars (table 3). Much more detailed information on mtDNA diversification process in eastern Europe will be obtained after considerable enlargement of database of complete mitochondrial genomes created in the present study.

See another study by Miroslava Derenko Complete Mitochondrial DNA Analysis of Eastern Eurasian Haplogroups Rarely Found in Populations of Northern Asia and Eastern Europe

“haplogroup N9a is rarely found in the Volga-Ural region Tatars (~1%) and Bashkirs (1.5%) as well as in some eastern Europeans, like Russians from southwestern Russia (1.5%) and Czechs (0.6%) [37][40].

Haplogroup N9a.

Haplogroup N9a is characteristic of eastern Asian populations, where it is detected at a highest frequencies in Japan (4.6%), China (2.8%), Mongolia (2.1%) and Korea (3.9%) [8], [21], [32],[34]. Haplogroup N9a is rare in Taiwan (1.2%) and Island southeastern Asia (1.1%) [22], [30], but appears at greater frequencies in Mainland southeastern Asia (1.5–4.5%) [24], [33]. With the comparable frequencies this haplogroup is detected in several populations of northern (0.9%–4.6%) and central Asia (1.2–2.5%), but it is virtually absent in western and southern Asia [8], [32], [35], [36]. Interestingly, haplogroup N9a is rarely found in the Volga-Ural region Tatars (~1%) and Bashkirs (1.5%) as well as in some eastern Europeans, like Russians from southwestern Russia (1.5%) and Czechs (0.6%) [37][40].

In the current study we have reconstructed the phylogeny of haplogroup N9a based on 59 complete mtDNA genomes including ten newly sequenced samples and revised the classification of this haplogroup that was defined earlier as having seven main branches – N9a1’3; N9a2’4’5; N9a6–N9a10 [18]. Information from complete mtDNA sequencing reveals that Buryat sample (Br_623) and previously published Japanese sample (HNsq0240) from Tanaka et al. [21] share mutations at nps 11368 and 15090 and therefore belong to a rare N9a8 haplogroup (Figure S3). It should be noted that these two sequences showed deep divergence with each other being characterized by unique sets of seven and six mutations respectively. As follows from phylogenetic analysis data, our Barghut sample (Bt_81) shares transversions at nps 4668 and 5553 with two published Japanese samples [21] and therefore can be ascribed to a previously reported subcluster N9a2a3, Tatar sample (Tat_411G) which is identical to Japanese sample KAsq0018 [21] is a part of N9a2a2, Khamnigan (Khm_36) and Korean (Kor_87) mtDNAs belong to N9a1, whereas Korean (Kor_92) and Buryat (Br_433) variants can be identified as members of N9a3. Interestingly, Russian (Rus_BGII-19) and Czech (CZ_V-44) samples bearing transitions at nps 4913 and 12636 apparently belongs to a new subbranch N9a3a within haplogroup N9a3. Despite the low coalescence time estimates obtained for N9a3a (~1.3–2.3 kya) it is quite probable that its founder had been introduced into eastern Europe much earlier taking into account the age of a whole N9a3 estimated as 8–13 kya and the discovery of a N9a haplotypes in a Neolithic skeletons from several sites, located in Hungary and belonged to the Körös Culture and Alföld Linear Pottery Culture, which appeared in eastern Hungary in the early 8th millennium B.P. [41], [42].

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