Europeans = Neolithic farmers, Mesolithic hunter-gatherers and "Ancient North Eurasians" (etc.)

A new preprint on the bioRxiv reports ancient DNA from a Mesolithic European hunter-gatherer from Luxembourg whose mtDNA was published a few years ago and a Neolithic European LBK farmer from Germany, as well as several Mesolithic hunter-gatherers from Sweden.

The Luxembourg sample is similar to the Iberian La Brana samples and the Swedish Mesolithic samples are similar to Swedish Neolithic hunter-gatherers. The LBK farmer is similar to Oetzi and a Swedish TRB farmer and to Sardinians. The authors also study the recently published Mal'ta Upper Paleolithic sample from Lake Baikal and find that it is part of an "Ancient North Eurasian" population that also admixed into West Eurasians on top of the Neolithic/Mesolithic mix.

The authors' proposed model and admixture estimates:

It seems that the estimates go all the way to "almost pure" Early European farmer ancestry but "West European Hunter-Gatherer" and "Ancient North Eurasian" ancestry isn't found unmixed in any modern populations. The model seems to agree with Raghavan et al. that Karitiana are "Mal'ta"-admixed but also finds the most basal Eurasian ancestry in the European Neolithic farmer. The authors write:

The successful model (Fig. 2A) also suggests 44 ± 10% “Basal Eurasian” admixture into the ancestors of Stuttgart: gene flow into their Near Eastern ancestors from a lineage that diverged prior to the separation of the ancestors of Loschbour and Onge. Such a scenario, while never suggested previously, is plausible given the early presence of modern humans in the Levant25, African-related tools made by modern humans in Arabia26, 27, and the geographic opportunity for continuous gene flow between the Near East and Africa28

The Swedish/Luxembourg Mesolithic hunter-gatherers are all mtDNA-haplogroup U and Y-chromosome haplogroup I, so again no R1a/R1b in early European samples.

An interesting finding is that the Luxembourg hunter-gatherer probably had blue eyes (like a Mesolithic La Brana Iberian, a paper on which seems to be in the works) but darker skin than the LBK farmer who had brown eyes but lighter skin. Raghavan et al. did not find light pigmentation in Mal'ta (but that was a very old sample), so with the exception of light eyes that seem established for Western European hunter-gatherers (and may have been "darker" in European steppe populations, but "lighter" in Bronze Age South Siberians?), the origin of depigmentation of many recent Europeans remains a mystery. Ancient DNA continues to surprise at every turn.

UPDATE (4/4/2014): a new version of the preprint.

bioRxiv doi: 10.1101/001552

Ancient human genomes suggest three ancestral populations for present-day Europeans

Iosif Lazaridis et al.

Analysis of ancient DNA can reveal historical events that are difficult to discern through study of present-day individuals. To investigate European population history around the time of the agricultural transition, we sequenced complete genomes from a ~7,500 year old early farmer from the Linearbandkeramik (LBK) culture from Stuttgart in Germany and an ~8,000 year old hunter-gatherer from the Loschbour rock shelter in Luxembourg. We also generated data from seven ~8,000 year old hunter-gatherers from Motala in Sweden. We compared these genomes and published ancient DNA to new data from 2,196 samples from 185 diverse populations to show that at least three ancestral groups contributed to present-day Europeans. The first are Ancient North Eurasians (ANE), who are more closely related to Upper Paleolithic Siberians than to any present-day population. The second are West European Hunter-Gatherers (WHG), related to the Loschbour individual, who contributed to all Europeans but not to Near Easterners. The third are Early European Farmers (EEF), related to the Stuttgart individual, who were mainly of Near Eastern origin but also harbored WHG-related ancestry. We model the deep relationships of these populations and show that about ~44% of the ancestry of EEF derived from a basal Eurasian lineage that split prior to the separation of other non-Africans.

Link

mtDNA from Late Bronze Age West Siberia (Stary Sad)

From the paper:

All of the samples studied have a different sequence of mitochondrial DNA HVR I (Table). An analysis of haplotype structure enabled its attribution to five mitochondrial DNA haplogroups: western Eurasian U2e, U5a, T and eastern Eurasian C and A10. A mixed gene pool structure combining mitochondrial DNA groups typical of human populations from western and eastern parts of Eurasia, have been ascertained for all ancient Western-Siberian forest-steppe human populations that we have studied to date (Pilipenko, 2010).

The authors identify two components in the population: (i) the "indigenous" mixed population of West Eurasian (U2e+U5a) and East Eurasian (A10+C), and (ii) the intrusive Andronovo (Fedorovka) (T). They also hint about a special article on the autochthony of the A10 lineages in the region. We now seem to have fairly good data about the existence of a wide West/East Eurasian interaction zone from eastern Europe to Siberia, and it would certainly be interesting to see when this zone was first formed; in any case, it seems clear that at least in the central-northern parts of Eurasia admixture between East and West has been going on for a while.

The more interesting question is where did the mtDNA haplogroup-T in Fedorovo groups come from? In Europe, for which we have the best data, T makes its appearance with early Neolithic groups, but it's difficult to imagine that this was the source of T in West Siberia. I would not be surprised if the entrance of T into the boreal zone occurred via the Caucasus, although Grigoriev derives them "from the Near East through Iran and Central Asia into the Irtish basin." Ancient DNA reveals the gradual appearance of new players in both Europe and West Siberia, but their ultimate source(s) and migratory paths remains elusive.

Related:

• Population strata in the West Siberian plain (Baraba forest steppe)

Archaeology, Ethnology and Anthropology of Eurasia Volume 40, Issue 4, December 2012, Pages 62–69

An Analysis Of Mitochondrial Dna From The Pakhomovskaya Population Of The Late Bronze Age, Western Siberia

V.I. Molodin et al.

This article presents the results of an analysis of mitochondrial DNA extracted from bone samples from Stary Sad – a burial ground representing the eastern variant of the Late Bronze Age Pakhomovskaya culture in the Baraba forest-steppe, Western Siberia. Comparison with mitochondrial DNA data from earlier populations of the region and also with archaeological facts, points to the origins of the Pakhomovskaya people. Certain components of their gene pool were evidently derived from the local pre-Andronovo populations, others from the actual Andronovo (Fedorovka) population and also from later immigrants. In this article an integrative reconstruction based on biological and cultural facts is proposed.

Link

mtDNA of Cres Islanders

Coll Antropol. 2009 Dec;33(4):1323-8.

Mitochondrial DNA heritage of Cres Islanders--example of Croatian genetic outliers.

Jeran N, Havas Augustin D, Grahovac B, Kapović M, Metspalu E, Villems R, Rudan P.

Diversity of mitochondrial DNA (mtDNA) lineages of the Island of Cres was determined by high-resolution phylogenetic analysis on a sample of 119 adult unrelated individuals from eight settlements. The composition of mtDNA pool of this Island population is in contrast with other Croatian and European populations. The analysis revealed the highest frequency of haplogroup U (29.4%) with the predominance of one single lineage of subhaplogroup U2e (20.2%). Haplogroup H is the second most prevalent one with only 27.7%. Other very interesting features of contemporary Island population are extremely low frequency of haplogroup J (only 0.84%), and much higher frequency of haplogroup W (12.6%) comparing to other Croatian and European populations. Especially interesting finding is a strikingly higher frequency of haplogroup N1a (9.24%) presented with African/south Asian branch almost absent in Europeans, while its European sister-branch, proved to be highly prevalent among Neolithic farmers, is present in contemporary Europeans with only 0.2%. Haplotype analysis revealed that only five mtDNA lineages account for almost 50% of maternal genetic heritage of this island and they present supposed founder lineages. All presented findings confirm that genetic drift, especially founder effect, has played significant role in shaping genetic composition of the isolated population of the Island of Cres. Due to presented data contemporary population of Cres Island can be considered as genetic "outlier" among Croatian populations.

Link

R1a1/U2e male in 2,000-year old Mongolian Xiongnu

Related:

• Some mtDNA links between Europe and Asia
• 30,000 year old mtDNA haplogroup U2 from Kostenki
• More on prehistoric South Siberians (Keyser et al. 2009)

American Journal of Physical Anthropology doi:10.1002/ajpa.21242

A western Eurasian male is found in 2000-year-old elite Xiongnu cemetery in Northeast Mongolia

Kijeong Kim et al.

Abstract

We analyzed mitochondrial DNA (mtDNA), Y-chromosome single nucleotide polymorphisms (Y-SNP), and autosomal short tandem repeats (STR) of three skeletons found in a 2,000-year-old Xiongnu elite cemetery in Duurlig Nars of Northeast Mongolia. This study is one of the first reports of the detailed genetic analysis of ancient human remains using the three types of genetic markers. The DNA analyses revealed that one subject was an ancient male skeleton with maternal U2e1 and paternal R1a1 haplogroups. This is the first genetic evidence that a male of distinctive Indo-European lineages (R1a1) was present in the Xiongnu of Mongolia. This might indicate an Indo-European migration into Northeast Asia 2,000 years ago. Other specimens are a female with mtDNA haplogroup D4 and a male with Y-SNP haplogroup C3 and mtDNA haplogroup D4. Those haplogroups are common in Northeast Asia. There was no close kinship among them. The genetic evidence of U2e1 and R1a1 may help to clarify the migration patterns of Indo-Europeans and ancient East-West contacts of the Xiongnu Empire. Artifacts in the tombs suggested that the Xiongnu had a system of the social stratification. The West Eurasian male might show the racial tolerance of the Xiongnu Empire and some insight into the Xiongnu society.

Link

30,000 year old mtDNA haplogroup U2 from Kostenki

The discovery ties in well with my thoughts in Migrationism Strikes Back. Indeed it ties in well with some of my comments in that post to the effect that the late European foragers tested recently (who belonged to mtDNA haplogroup U) were not significantly different from the earlier hunter-gatherers of Europe. So, we have continuity of U-types in Europe across tens of thousands of years, interrupted by the Neolithic ander latintrogression of the full package of modern Caucasoid haplogroups (the so-called other "Daughters of Eve").

The BBC has a story.

Current Biology doi:10.1016/j.cub.2009.11.068

A Complete mtDNA Genome of an Early Modern Human from Kostenki, Russia

Johannes Krause et al.

Abstract

The recovery of DNA sequences from early modern humans (EMHs) could shed light on their interactions with archaic groups such as Neandertals and their relationships to current human populations. However, such experiments are highly problematic because present-day human DNA frequently contaminates bones [1,2]. For example, in a recent study of mitochondrial (mt) DNA from Neolithic European skeletons, sequence variants were only taken as authentic if they were absent or rare in the present population, whereas others had to be discounted as possible contamination [3,4]. This limits analysis to EMH individuals carrying rare sequences and thus yields a biased view of the ancient gene pool. Other approaches of identifying contaminating DNA, such as genotyping all individuals who have come into contact with a sample, restrict analyses to specimens where this is possible [5,6] and do not exclude all possible sources of contamination. By studying mtDNA in Neandertal remains, where contamination and endogenous DNA can be distinguished by sequence, we show that fragmentation patterns and nucleotide misincorporations can be used to gauge authenticity of ancient DNA sequences. We use these features to determine a complete mtDNA sequence from a ∼30,000-year-old EMH from the Kostenki 14 site in Russia.

Link

Some mtDNA links between Europe and Asia

I was planning on writing up a more complete narrative for this post, but I don't think the evidence is -as of yet- strong enough to support very strong speculation. I will simply say that the recent results of Bramanti et al. for a U-dominated older mtDNA stratum in Central/North-eastern Europe can be reasonably extended to cover both North-western Europe and northern Eurasia up to Lake Baikal, the prehistoric limit between Caucasoids and Mongoloids.

This boreal zone of U dominance contrasts with that of the Neolithic and Bronze Age inhabitants, where the familiar mix of ten or so main Caucasoid haplogroups makes its appearance, in various proportions and in various degrees of admixture at the eastern end of its expansion. The eastern Caucasoids were probably derived from both (i) West Asia via the spread of the Neolithic economy to the east wherever it could be ecologically supported, (ii) in the more northern parts, from migrations across the steppe from Central and Eastern Europe.

More ancient DNA research is needed to establish (i) how complete was the U dominance in the pre-Neolithic northern zone, and (ii) when, and where did the other Caucasoid haplogroups break into it.

Anyway, here is the post as it stands:

Ricaut et al. (2004) discovered the presence of mtDNA haplogroup N1a (16147A, 16172C, 16223T, 16248T, and 16355T) in an Iron Age Scytho-Siberian skeleton from the Altai, reporting the presence of haplogroup N1a among Iranians and upper caste Havik Brahmins from India.

The same sequence was detected in a Neolithic Central European (DER1) of the Linearbandkeramik (LBK) culture, with reported modern matches in Egypt and Armenia. The following haplogroups were detected in the Neolithic LBK gene pool: H*, N1a, K, HV, T2, V, J, W, U3.

A later study by Gokcumen et al. (2008) discovered the presence of N1a in modern Kazakhs from the Altai:

The haplotypic variation within the seven N1a samples was relatively high (Table 2), with these haplotypes belonging to both the European and Central Asian branches of this haplogroup, as recently defined by Haak et al. (2005). Thus, the source of N1a haplotypes in Altaian Kazakhs was unclear, although they seemed to have originated west of this part of Central Asia (Gokcumen et al., 2007).

Haplogroup N1a was found to be a genuine signature of the Central European Neolithic by contrasting its high representation in the LBK with the overwhelming presence of haplogroup U (and especially U5 and U4) mtDNA among the Paleolithic and Mesolithic populations of the region.

A separate Neolithic Funnel Beaker (TRB) sample from Scandinavia (Malmström et al. 2009) included only three individuals belonging to haplogroups H, J, and T. Obviously, a sample of 3 is insufficient, but the absence of haplogroup U in it parallels that of the LBK. By contrast, the contemporaneous Mesolithic Pitted Ware culture, represented by 19 samples had single instances of J, and T (which may be due to admixture with the TRB), a single instance of haplogroup V, one of the few ones thought to be European in origin, and a gene pool that was apparently dominated by haplogroups U4 and U5. The picture emerging from the northmost European hunter-gatherers is one of a restricted set of haplogroups where U subclades were dominant (about 3/4).

N1a was also detected in medieval high-status Hungarians:

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.

While, as we saw, N1a was frequent among Neolithic Central Europeans, its absence in Hungarian commoners suggests that it was re-introduced -in the high status individuals- from Asia.

Interestingly, there has been European and Asian mtDNA evidence that allows us to have a good idea of the mtDNA landscape on which N1a-bearing people migrated from west to east:

The pre-farming foragers of Europe were dominated by mtDNA haplogroup U. The easternmost sample in the aforementioned study was from Samara, in European Russia and consisted of a U5a, and a U5a1 sample. How far to the west and east did the U-dominated population of pre-Neolithic northern Caucasoids extend?

Neolithic Siberians from Lake Baikal, the eastermost anthropologically attested limit of prehistoric Caucasoid populations had only U5a as a Western Caucasoid element in a population dominated by Eastern Eurasian mtDNA. Similarly, the Lokomotiv Siberian burials from Lake Baikal only had U5a in an other Mongoloid mtDNA gene pool. Yu Hong, a Sogdian in China (1,400 years ago) also belonged to haplogroup U5.

U5a was not limited to the territory of Central Europe to China in ancient times. It was the haplogroup of Cheddar Man, a Paleolithic Briton, and U5a1 or U5a1a has also been detected in a Mycenaean from Bronze Age Greece. Interestingly, U5a1 seems to have decreased in frequency in Britain from the 4th c. to the present.

Is it possible that negative selection is affecting mtDNA frequencies in Europe? U-haplogroup turns up in many ancient DNA samples, but the discovery that it was absent (or non-detectible) in Neolithic farmers raises the possibility that its reduced frequency may be due to demography, i.e., the overwhelming of Paleolithic foragers by Neolithic (and later) intruders.

We know that in the Bronze and subsequent ages, Siberians from Krasnoyarsk belonged to a rich assortment of Caucasoid haplogroups. It seems that newcomers from the West joined the U-dominated earliest settlers:

Twenty samples were found to belong to west Eurasian haplogroups (U2, U4,
U5a1, T1, T3, T4, H5a, H6, HV, K, and I), whereas the 6 remaining samples were attributed to east Eurasian haplogroups (Z, G2a, C, F1b and N9a).

At the other end of the Eurasiatic steppe, in the Bronze Age site of Eulau in Germany, the gene pool was also quite different from that of the Paleolithic inhabitants, with haplogroups K1b, U5b, I, H, X2, K1a2 detected.

Haplogroup X2 represents another link between the west and Siberia according to Reidla et al. (2003):

Overall, it appears that the populations of the Near East, the Caucasus, and Mediterranean Europe harbor subhaplogroup X2 at higher frequencies than those of northern and northeastern Europe (P less than .05) and that X2 is rare in Eastern European as well as Central Asian, Siberian, and Indian populations and is virtually absent in the Finno-Ugric and Turkic-speaking people of the Volga-Ural region. [...] the few Altaian (Derenko et al. 2001) and Siberian haplogroup X lineages are not related to the Native American cluster, and they are more likely explained by recent gene flow from Europe or from West Asia.

The Tubalar, Altaic speakers from the northeastern Altai showed a mixed Caucasoid-Mongoloid mtDNA gene pool, with the western component consisting of haplogroups H8, U4b, U5a1, and X2e:

Specifically, northeastern Altai appears to be a good candidate for the ancestral homeland of the haplogroup U4b, which is apparently ancient European. For some haplogroups, such as X2e, the relatively recent arrival to the Altai region is more likely.

Derenko et al. (2002) discovered a rich assortment of Caucasoid haplogroups in several populations from the Altai, including all aforementioned ones (H, HV1, J*, J1, J1b1, T1, T4, U1a, U2, U3, U4, U5a1, I, X and N1a):

The applied approach permitted identification of 60% of mtDNA types the majority of which had southern Caucasoid origin. Less than 10% of mtDNA types were of eastern European origin.

Derenko et al. (2003) also studied several populations from South Siberia where the Caucasoid component was much diminished (17%) with the following haplogroups present: H, U, J, T, I, N1a, X.

More on prehistoric South Siberians (Keyser et al. 2009)

This seems like a compendium of these authors' previous work (see here and links therein) which had appeared in forensic journals so far; there seems to be more material in this paper than in the previous shorter papers, but as far as I can tell, no new genetic results.

There is also supplementary data in the article.

From the paper:

The additional analysis performed on Xiongnu specimens revealed that whereas none of the specimens from the Egyin Gol valley bore this haplogroup, the Scytho-Siberian skeleton from the Sebÿstei site exhibited R1a1 haplogroup.

A previous study on Egyin Gol from Mongolia by Keyser et al.

More from the paper:

A search in the YHRD database as well as in our own databank revealed that none of the Y-STR haplotypes obtained from the south Siberian samples perfectly matched (at 17 loci) those included in the databases. Nevertheless, when not all loci were scored, matches were found for all samples except two (S07 and S32) for which even the search based on the 9-loci minimal haplotype was fruitless (Table 4).

The article includes fairly comprehensive searches of the discovered Y-chromosome and mtDNA types in modern populations.

The mtDNA results:

Twenty samples were found to belong to west Eurasian haplogroups (U2, U4,
U5a1, T1, T3, T4, H5a, H6, HV, K, and I), whereas the 6 remaining samples were attributed to east Eurasian haplogroups (Z, G2a, C, F1b and N9a).

Interestingly:

Moreover, it is likely that some mtDNA lineages were carried to southern Siberia from the Volga–Ural region. Incidentally, in the fifth century BC, Herodotus mentioned transit trade occurring in Central Asia along a route that stretched from the Urals in the west to the Altai and the Minusinsk Basin in the east (Hemphill and Mallory 2004). In Altai, the presence of the R1a1 haplogroup in the middle of the fifth century BC is confirmed by the sample SEB 96K2 of Ricaut et al. (2004) which was found to belong to this Y-haplogroup. The boundary of the eastern European influence seems to be fixed at the peri-Baikal area since no R1a1 haplogroup was found in the Xiongnu specimens of the Northern border of Mongolia.

Link to Ricaut et al. (2004). This is in good agreement with the anthropological picture by Alexeev:

"The boundary of the Europeoid movement is clearly fixed at Lake Baikal. To the east of Baikal no palaeoanthropological find bears any traces of Europeoid admixture."

See also my compendium on ancient Y-chromosome studies.

Human Genetics doi:10.1007/s00439-009-0683-0

Ancient DNA provides new insights into the history of south Siberian Kurgan people.

Keyser C. et al.

Abstract

To help unravel some of the early Eurasian steppe migration movements, we determined the Y-chromosomal and mitochondrial haplotypes and haplogroups of 26 ancient human specimens from the Krasnoyarsk area dated from between the middle of the second millennium BC. to the fourth century AD. In order to go further in the search of the geographic origin and physical traits of these south Siberian specimens, we also typed phenotype-informative single nucleotide polymorphisms. Our autosomal, Y-chromosomal and mitochondrial DNA analyses reveal that whereas few specimens seem to be related matrilineally or patrilineally, nearly all subjects belong to haplogroup R1a1-M17 which is thought to mark the eastward migration of the early Indo-Europeans. Our results also confirm that at the Bronze and Iron Ages, south Siberia was a region of overwhelmingly predominant European settlement, suggesting an eastward migration of Kurgan people across the Russo-Kazakh steppe. Finally, our data indicate that at the Bronze and Iron Age timeframe, south Siberians were blue (or green)-eyed, fair-skinned and light-haired people and that they might have played a role in the early development of the Tarim Basin civilization. To the best of our knowledge, no equivalent molecular analysis has been undertaken so far.

Link

mtDNA haplogroup U2d and medieval nomads

Hum Biol. 2008 Oct;80(5):565-71.

Mitochondrial haplogroup u2d phylogeny and distribution.

Malyarchuk B, Derenko M, Perkova M, Vanecek T.

Abstract

The sequencing of the entire mitochondrial DNA belonging to haplogroup U2d reveals that this clade is defined by four coding-region mutations at positions 1700, 4025, 11893, and 14926. Phylogenetic analysis suggests that western Eurasian haplogroup U2d appears to be a sister clade with the Indo-Pakistani haplogroup U2c. Results of a phylogeographic analysis of published population data on the distribution of haplogroup U2d indicate that the presence of such mtDNA lineages in Europe may be mostly a consequence of medieval migrations of nomadic tribes from the Caucasus and eastern Europe to central Europe.

Link

Ancient mtDNA from Krasnoyarsk Siberians

This is a short paper; there are no new Y chromosome results, the old ones were reported here. In the current paper:

Moreover, these SNP analyses allowed us to obtain additional information regarding haplotype assignment: two samples, initially classified as belonging to haplogroup H, were found to belong to H6 and H5a, respectively. Three other samples sharing a haplotype identical with the CRS or previously classified as H were found to belong to haplogroup U.

With respect to the haplogroup U mtDNA, they were not able to assign it to a sub-haplogroup, but:

it would be necessary to design new SNPs to determine to which sub-haplogroup within haplogroup U they belong, knowing that it can not be haplogroup U2, U4 and U5a, already tested in our SNapShot assay.

Haplogroup H6 is fairly old in Central Asia (Loogvali et al. 2004, Mol. Biol. Evol. 21(11):2012–2021. 2004), so the authors focus on H5a which they link with a European origin, as suggested by Pereira et al. 2005 (http://www.genome.org/cgi/doi/10.1101/
gr.3182305). The authors mention that:

This subclade is distributed at low levels across Europe and is absent from the Caucasus and the Near East, suggesting a European origin as reported by Pereira et al. [2].

Roostalu et al. (2006) Mol. Biol. Evol. 24(2):436–448. 2007 lists several West Asian populations, although it would be interesting to see a wider sampling.

H5a occurs in Russians at a frequency of 1.8%, which is lower than Romania (7.8%), and Poland (13.2%), Czech Republic (3.2%) (Pereira et al. 2008), Slovakia (4.3%, Malyarchuck et al. 2008, doi: 10.1111/j.1469-1809.2007.00410.x), and the Balkans (10% of H which occurs at a frequency of 45% = 4.5%, Loogvali et al. 2004, Balkans=Croats+Albanians+Greeks) vs. Eastern Slavs (7/165 of H, i.e., 4.2% of H, which occurs at a frequency of 40% = 1.7%, Loogvali et al. 2004, Eastern Slavs = Russians and Ukrainians).

In conclusion, a European origin of H5a in Krasnoyarsk Siberians is consistent with its higher frequency in many European populations compared to Central Asians and Altaians (Loogvali et al. 2004); however, the higher frequency does not occur in Russia and the Ukraine, but further west, in the Balkans and Central Europe.

Forensic Science International: Genetics Supplement Series doi:10.1016/j.fsigss.2007.10.133

Tracing back ancient south Siberian population history using mitochondrial and Y-chromosome SNPs

Christine Keyser et al.

Abstract

Southern Siberian populations have been the subject of intense works attempting to shed light on the peopling of Siberia. From these works, it appeared that south Siberian populations are the reflect of the complex interactions that occurred at different times between Eastern and Western Eurasian people. According to paleoantropological and modern molecular data, European populations predominated in south Siberia during the Bronze age whereas Asian component began to increase from the Iron age. To test this hypothesis we determined the mitochondrial and Y-chromosomal haplotypes and haplogroups of 29 ancient specimens from the Krasnoyarsk area (Southern Central Siberia) dating from the Bronze and Iron ages. The data obtained supported the hypothesis of the prevalence of Western Eurasian component in Southern Central Siberia in the Bronze age. Moreover, they allowed us to propose a geographic origin of the Krasnoyarsk population during this period.

Link

Ancient mtDNA from Iron Age Denmark

Am J Phys Anthropol. 2007 Nov 28 [Epub ahead of print]

Rare mtDNA haplogroups and genetic differences in rich and poor Danish Iron-Age villages.

Melchior L, Gilbert MT, Kivisild T, Lynnerup N, Dissing J.

The Roman Iron-Age (0-400 AD) in Southern Scandinavia was a formative period, where the society changed from archaic chiefdoms to a true state formation, and the population composition has likely changed in this period due to immigrants from Middle Scandinavia. We have analyzed mtDNA from 22 individuals from two different types of settlements, Bøgebjerggård and Skovgaarde, in Southern Denmark. Bøgebjerggård (ca. 0 AD) represents the lowest level of free, but poor farmers, whereas Skovgaarde 8 km to the east (ca. 200-270 AD) represents the highest level of the society. Reproducible results were obtained for 18 subjects harboring 17 different haplotypes all compatible (in their character states) with the phylogenetic tree drawn from present day populations of Europe. This indicates that the South Scandinavian Roman Iron-Age population was as diverse as Europeans are today. Several of the haplogroups (R0a, U2, I) observed in Bøgebjerggård are rare in present day Scandinavians. Most significantly, R0a, harbored by a male, is a haplogroup frequent in East Africa and Arabia but virtually absent among modern Northern Europeans. We suggest that this subject was a soldier or a slave, or a descendant of a female slave, from Roman Legions stationed a few hundred kilometers to the south. In contrast, the haplotype distribution in the rich Skovgaarde shows similarity to that observed for modern Scandinavians, and the Bøgebjerggård and Skovgaarde population samples differ significantly (P approximately 0.01). Skovgaarde may represent a new upper-class formed by migrants from Middle Scandinavia bringing with them Scandinavian haplogroups.

Link

Phylogeny of mtDNA haplogroup N in India

Many new mtDNA studies including the previously posted one on mtDNA haplogroup H are based on complete sequencing of mtDNA, allowing for a very detailed phylogenetic study of the populations examined. This is much easier for mtDNA compared to chromosomal DNA, since the former is much shorter. Studies based on complete sequencing typically have to use small samples, but the resulting phylogenetic knowledge can then be applied to larger population samples, by testing only the informative polymorphic loci discovered.

A new study examines Indian mtDNA in this manner, and especially the macrohaplogroup N, which reaches its highest frequencies in Caucasoid populations, although its specific subclades are found in non-Caucasoids, e.g., Australoids. Most Indian matrilineages belong to a different maclohaprogroup, M, which is shared with the Mongoloids, although Indians harbor clades different from those of Mongoloids, indicating that they are both descended from ancient "Proto-Asian" populations. Both M and N predate the emergence of the modern racial divisions of mankind.

Macrohaplogroup N is shared between Indians and West Eurasians but as this new paper indicates, in India it contains clades likely to be the result of admixture with West Eurasians, but also more ancient clades lacking in West Eurasia; these latter ones are indigenous to India, representing its earliest colonization.

Am. J. Hum. Genet., 75:000, 2004

Phylogeny of Mitochondrial DNA Macrohaplogroup N in India, Based on Complete Sequencing: Implications for the Peopling of South Asia

Malliya gounder Palanichamy et al.

To resolve the phylogeny of the autochthonous mitochondrial DNA (mtDNA) haplogroups of India and determine the relationship between the Indian and western Eurasian mtDNA pools more precisely, a diverse subset of 75 macrohaplogroup N lineages was chosen for complete sequencing from a collection of >800 control-region sequences sampled across India. We identified five new autochthonous haplogroups (R7, R8, R30, R31, and N5) and fully characterized the autochthonous haplogroups (R5, R6, N1d, U2a, U2b, and U2c) that were previously described only by first hypervariable segment (HVS-I) sequencing and coding-region restriction-fragment–length polymorphism analysis. Our findings demonstrate that the Indian mtDNA pool, even when restricted to macrohaplogroup N, harbors at least as many deepest-branching lineages as the western Eurasian mtDNA pool. Moreover, the distribution of the earliest branches within haplogroups M, N, and R across Eurasia and Oceania provides additional evidence for a three-founder-mtDNA scenario and a single migration route out of Africa.

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mtDNA in Maharashtra (India)

A new study examines mitochondrial diversity in the population of Maharashtra (India) and confirms the authochthonous development of mtDNA haplogroup M in India, and finds that the indigenous clades U2 and U7 are the most important subclades of U in this population. The coalescence age for M is ~45000 ± 641 and for U it is ~25600 ± 1624. According to the authors, these results demonstrate that:

Thus, this reconfirms that India has witnessed two major expansion phases that have influenced the wide assortment of the Maharshtrian and other Indian lineages. The more recent phase, which according to our estimation started around 25600 years ago, is well reflected in the coalescence age of U. This period seems to correspond to the transition from the Middle to the Upper Paleolithic. The first expansion phase may reflect a demographic burst immediately after the initial peopling of India around 45000 years ago.

Annals of Human Genetics
OnlineEarly doi:10.1046/j.1529-8817.2004.00108.x

Mitochondrial DNA Diversity in Tribal and Caste Groups of Maharashtra (India) and its Implication on Their Genetic Origins

M. M. Baiga et al.

Summary

Genetic relationships among caste-groups are not uniform across the geographical regions of India. Many anthropologists have speculated on the tribal origin of some caste groups in Maharashtra and other states of India. To test this hypothesis, we used neutral mtDNA markers to study genetic relatedness among tribal and caste groups from Maharashtra. Descriptive statistics such as nucleotide diversity, gene diversity and average mismatches were found to be of the same magnitude. Phylogenetic network analysis exhibited a star-like expansion that may date back to the peopling of Eurasia, ~50,000 year ago. The reconstruction of mtDNA haplogroups showed that both the caste and tribal populations share similar branches of the tree. Also, the coalescence age estimation of caste and tribal populations suggests the persistence of maternal lineages with their root in early late Pleistocene. Our mtDNA analyses show some preliminary and significant evidence for the origin of prehistoric tribal and hierarchical caste societies of Maharashtra.

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