mtDNA and Y chromosomes of Tungus

PLoS ONE 8(12): e83570. doi:10.1371/journal.pone.0083570

Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers

Ana T. Duggan et al.

Evenks and Evens, Tungusic-speaking reindeer herders and hunter-gatherers, are spread over a wide area of northern Asia, whereas their linguistic relatives the Udegey, sedentary fishermen and hunter-gatherers, are settled to the south of the lower Amur River. The prehistory and relationships of these Tungusic peoples are as yet poorly investigated, especially with respect to their interactions with neighbouring populations. In this study, we analyse over 500 complete mtDNA genome sequences from nine different Evenk and even subgroups as well as their geographic neighbours from Siberia and their linguistic relatives the Udegey from the Amur-Ussuri region in order to investigate the prehistory of the Tungusic populations. These data are supplemented with analyses of Y-chromosomal haplogroups and STR haplotypes in the Evenks, Evens, and neighbouring Siberian populations. We demonstrate that whereas the North Tungusic Evenks and Evens show evidence of shared ancestry both in the maternal and in the paternal line, this signal has been attenuated by genetic drift and differential gene flow with neighbouring populations, with isolation by distance further shaping the maternal genepool of the Evens. The Udegey, in contrast, appear quite divergent from their linguistic relatives in the maternal line, with a mtDNA haplogroup composition characteristic of populations of the Amur-Ussuri region. Nevertheless, they show affinities with the Evenks, indicating that they might be the result of admixture between local Amur-Ussuri populations and Tungusic populations from the north.

Link

Clarifying the phylogeny of Y-chromosome haplogroup C3c

A short and to the point paper that addresses the issue of classification within Y-haplogroup C3c and refines our knowledge about the distribution of both C3c* and C3c1. I wish more researchers would publish such short technical papers that refine the classification of their Y-chromosome samples as more phylogenetic information becomes available.

From the paper:

In our study, the highest frequencies of subhaplogroup C3c1-(M77, M86) were observed in Tungusic-speaking people of North-Eastern Asia, such as Evens and Evenks, as well as in Turkic-speaking Altaian Kazakhs and Mongolic-speaking Kalmyks. These results are in agreement with previous observations based on separate or joint genotyping of M77 and M86 markers.3,9,12,16

C3c* haplotypes were detected in aboriginal populations of North- Eastern Asia—Koryaks (28.2%) and Evens (1.6%) from the Sea of Okhotsk coast (Magadan region) and West Evenks (2.4%) from Central Siberia (Evenki Autonomous District) (Table 1). Earlier, two Evenk individuals from southern part of Yakutia, one Yakut-speaking Evenk and one Yukaghir were found to belong to C3c*.2,3 Therefore, the geographic distribution of subhaplogroup C3c* is limited to the eastern part of Siberia.

The authors apply the evolutionary mutation rate -although they acknowledge that molecular dating is controversial- to obtain ages of 9.9 (C3c), 6.5 (C3c1), and 4.5 (C3c*). While I don't trust the ability of Y-STR-based molecular dating to provide reasonably accurate age estimates, I would not be surprised if C3c1 was somehow implicated in the deeper origins of the Altaic language family, at least in the "narrow-sense" (Mongolian-Tungusic-Turkic).

J Hum Genet. 2012 Jul 19. doi: 10.1038/jhg.2012.93. [Epub ahead of print]

On the Y-chromosome haplogroup C3c classification.

Malyarchuk BA, Derenko M, Denisova G.

Abstract As there are ambiguities in classification of the Y-chromosome haplogroup C3c, relatively frequent in populations of Northern Asia, we analyzed all three haplogroup-defining markers M48, M77 and M86 in C3-M217-individuals from Siberia, Eastern Asia and Eastern Europe. We have found that haplogroup C3c is characterized by the derived state at M48, whereas mutations at both M77 and M86 define subhaplogroup C3c1. The branch defined by M48 alone would belong to subhaplogroup C3c*, characteristic for some populations of Central and Eastern Siberia, such as Koryaks, Evens, Evenks and Yukaghirs. Subhaplogroup C3c* individuals could be considered as remnants of the Neolithic population of Siberia, based on the age of C3c*-short tandem repeat variation amounting to 4.5±2.4 thousand years.

Link

Multidimensional scaling and ADMIXTURE across Northern Eurasia corresponds to geography and language

Here is a multi-dimensional scaling plot of a number of North Eurasian populations. In comparison to my previous post, I have excluded Americans and Greenlanders, and added several other populations from Central Asia and West Eurasia.

Population labels have been printed in the co-ordinates of the population averages; these largely correspond with identifiable blobs of colored points, but note that some populations have several outliers, so labels appear in white space. Most notable in that respect are the Koryak, Chukchi, and the Nganasan, all of whom have some apparently European-admixed individuals.

"Mongol" corresponds to Rasmussen et al. (2010) Mongol sample, while "Mongola" to the HGDP-CEPH one. The population codes on the left may not be clearly visible as they overlap with each other and are CEU, LT, HU (relatively unadmixed Caucasoids), FI/RU (Uralian-admixed northern Caucasoids), IR/TR (Altaic-admixed southern Caucasoids). The West Eurasian part of the plot can be seen blown up on the right.

The correspondence with geography and language is striking. Siberian isolates from the extreme north and east, Koryak and Chuckhi are on top; HapMap Chinese at the bottom. Between them are Uralians (Selkup, Yukagir, Nganassan) and Altaics (Mongol-Tungus-Turkic people).

Below is ADMIXTURE analysis for the same set of populations, for K=7:

Finns and Russians seem to have an excess of the "Nganasan" component over the Altaic, while Turks have the opposite. Below is a table of Fst distances between components:

The close relationship between the two Caucasoid components is apparent (Fst=0.033), but note fairly large Fst divergences between the morphologically Mongoloid groups. I attribute this mostly to the very low population sizes of these groups, which have probably affected them by drift. For the less demographically constrained Altaic and East Asian components, Fst=0.044.

If you are not familiar with these ethnic groups, the Red Book of the Peoples of the Russian Empire and the Ethnologue indexes on Altaic and Uralic are invaluable, as are the portraits of ethnic groups of China. On the right a picture of a Nganasan.

UPDATE: Also, a past post from the blog, collating Y-haplogroup N frequencies with anthropological descriptions. Nganasans apparently belong to haplogroup N at a frequency of 92.1%!

Social selection in Y-chromosome haplogroup C3 clusters

There was another recent paper on Y-chromosome haplogroup C recently. The authors of the current paper also present dates with both the evolutionary and genealogical mutation rate. They write:

The age of accumulated STR variation within hg C3, estimated using the method of Zhivotovsky et al. (2004), is about 14.9 ky or 4.1 ky depending on the mutation rate values selected for calculations (Table 3). The older time estimate is most compatible with the view that hg C3 haplotypes were present in Siberia during the Last Glacial Maximum from where the ancestors of C3b Native Americans migrated to the Beringia (Karafet et al., 2002; Zegura et al., 2004).

However, as I noted in my review of the earlier paper:

A case in point is haplogroup C3b-P39; according to the authors' date, this ought to be related to the early arrival of the ancestors of Amerindians, but haplogroup C in the Americans has a strong relationship with Na-Dene speakers such as Athapaskans, and it seems to me that a late spread of this haplogroup is more consistent with its limited geographical distribution and strong linguistic associations.

If C3 had spread into the Americas "early" (together with the other main haplogroup, Q), then we would expect to see it today all over the Americas (perhaps lost here and there due to drift in small populations), and in all language groups. However, this is not what we see. Hence, I am inclined to believe in the more recent spread of C3 into the Americas, together with Na-Dene speakers.

From the paper:

The median joining network of subcluster C3c appears to be complex, with several common haplotypes present in different populations (Fig. 2). Our analysis revealed that the age of this subcluster is about 5.9 ky or 1.6 ky, whereas the age of subcluster C3d appears to be younger – about 2.0 ky or 0.5 ky, depending on the mutation rate values selected.

Haplogroup C3c dominates Kalmyks, Evenks, Evens, i.e. Mongolic-Tungusic populations; C3d in Mongols, Buryats, Khamnigans (Mongolic-speakers).

As I noted in the Cohen Modal Haplotype paper, age estimation must harmonize with both the observed Y-STR variation and known demography. The key questions are: has there been enough time for haplogroup ? to accumulate so much variation, and to grow to such a population size?

Younger haplogroup ages often hit a stumbling block in trying to explain demography (hence my reservations on the CMH paper). Yet, it is much easier to consider massive demographic growth/social selection in Mongols and associated peoples, as the evidence for that growth and expansion is a part of history, and it also harmonizes with what we know about nomadic peoples.

In any case, the real age could be different than the point estimates, both due to the limitations of Y-STR markers, as well as the potential presence of outliers, in which the recently expanded group within a haplogroup dominates the age estimate.

The authors also deal with the Genghis Khan "star cluster" which is part of the paragroup C3*. Here is what they have to say:

It is suggested that this subcluster appears to have originated in Mongolia about 1 ky ago, taking into account the genealogical mutation rate (Zerjal et al., 2003). Our present and previous (Derenko et al., 2007b) studies have shown that the highest frequency of the “star cluster” in C3∗ is observed in Mongols (35%), whereas in Siberia it varies from 8% in Altaian Kazakhs and 6.5% in Buryats to less than 3% in Tuvinians, Altaians and Shors (Table S2). According to our data, the age of the “star cluster” in C3∗ is 2.8 ± 1.0 or 0.78 ± 0.27 ky, based on the evolutionary and genealogical mutation rates, respectively.

Genghis Khan flourished about 0.8ky. If we accept (as I do) the genealogical rate as closer to the truth, then the "star cluster" is related to Genghis and his male relatives, otherwise it is a completely unrelated phenomenon.

Annals of Human Genetics DOI: 10.1111/j.1469-1809.2010.00601.x

Phylogeography of the Y-chromosome haplogroup C in northern Eurasia

Boris Malyarchuk et al.

To reconstruct the phylogenetic structure of Y-chromosome haplogroup (hg) C in populations of northern Eurasia, we have analyzed the diversity of microsatellite (STR) loci in a total sample of 413 males from 18 ethnic groups of Siberia, Eastern Asia and Eastern Europe. Analysis of SNP markers revealed that all Y-chromosomes studied belong to hg C3 and its subhaplogroups C3c and C3d, although some populations (such as Mongols and Koryaks) demonstrate a relatively high input (more than 30%) of yet unidentified C3* haplotypes. Median joining network analysis of STR haplotypes demonstrates that Y-chromosome gene pools of populations studied are characterized by the presence of DNA clusters originating from a limited number of frequent founder haplotypes. These are subhaplogroup C3d characteristic for Mongolic-speaking populations, “star cluster” in C3* paragroup, and a set of DYS19 duplicated C3c Y-chromosomes. All these DNA clusters show relatively recent coalescent times (less than 3000 years), so it is probable that founder effects, including social selection resulting in high male fertility associated with a limited number of paternal lineages, may explain the observed distribution of hg C3 lineages.

Link

Ancient DNA from frozen Yakuts

From the paper:

Sixty one percent (8 out of 13) of the haplotypes (Ht1, Ht2, Yaka56, 65, 71, 80, 81, 86) were affiliated to the N1c (TAT-C) haplogroup on the basis of the SNP analyses. This haplogroup is considered as the most frequent in the Yakut population, and its frequency varies across studies from 75% [12] to 100% [13]. Sample YAKa26 was affiliated to haplogroups K . The SNP typing was inconclusive for 5 individuals (YAKa17, 19, 47, 49 and 57); nevertheless the affiliation to N1c was excluded on the basis of the absence of the TAT-C mutation.

and:

The origin of the most frequent Y-chromosomal haplotypes (Ht1 and Ht2) was difficult to establish on the basis of genetic information. Indeed, these two lineages belonging to haplogroup N1c seem to be restricted to Yakut populations, and were probably present since the period they were first located in Central Yakutia. Interestingly, the comparison with archaeological data revealed that the male individuals (YAKa34, 39, 40, 69, 78) at the beginning of the 18th century, identified as Clan Chiefs (or tojons) on the basis of their grave goods (weapons, jewelry, silk clothes, richly ornamented saddles and signet rings), belonged to these two haplotypes. Therefore, archaeological data could bring interesting information in tracing back the origin of these enigmatic male lineages. Indeed, the grave goods of the 15th/17th centuries (weapons and horse harnesses) and the construction of coffins with an empty trunk from the 18th century are similar to the burial customs of the Cis-Baïkal area [44] and of the Egyin Gol Necropolis during the 3rd century BC [45-47]. This suggests that the male ancestors of the Yakuts were probably formed of a small group of horse-riders originating from Northern Mongolia or the Baïkal Lake.

and:

Based on the analyses of the maternal and paternal lineages of ancient Yakuts, we were able to demonstrate that the formation of this population started before the 15th century, with a small group of settlers composed of horse-riders from the Cis-Baïkal region and a small number of women from different South Siberian origins.

BMC Evolutionary Biology doi:10.1186/1471-2148-10-25

Human evolution in Siberia: from frozen bodies to ancient DNA

Eric Crubezy et al.

Abstract (provisional)

Background
The Yakuts contrast strikingly with other populations from Siberia due to their cattle- and horse-breeding economy as well as their Turkic language. On the basis of ethnological and linguistic criteria as well as population genetic studies, it has been assumed that they originated from South Siberian populations. However, many questions regarding the origins of this intriguing population still need to be clarified (e.g. precise origin of paternal lineages and admixture rate with indigenous populations). This study attempts to better understand the origins of the Yakuts, by performing genetic analyses on 58 mummified frozen bodies dated from the 15th to the 19th century, excavated from Yakutia (Eastern Siberia).

Results
High quality data were obtained for the autosomal STRs, Y-chromosomal STRs and SNPs and mtDNA due to exceptional sample preservation. A comparison with the same markers on seven museum specimens excavated 3 to 15 years ago showed significant differences in DNA quantity and quality. Direct access to ancient genetic data from these molecular markers combined with the archaeological evidence, demographical studies and comparisons with 166 contemporary individuals from the same location as the frozen bodies, helped us to clarify the microevolution of this intriguing population.

Conclusion
We were able to trace the origins of the male lineages to a small group of horse-riders from the Cis-Baikal area. Furthermore, mtDNA data showed that intermarriages between the first settlers with Evenks women led to the establishment of genetic characteristics during the 15th century that are still observed today.

Link (pdf)

New YHRD release

An August 10 release of the YHRD - Y Chromosome Haplotype Reference Database.

Twenty populations were added or updated today: two Amerindian tribal populations from the Formosa province in Argentina (Pilaga, Toba), one from Venezuela (Caracas), two from provinces in Colombia (Boyaca, Cundinamarca), three from Siberian nomad populations (Western and Central Evens, Iengra Evenks), one from Belarus (Pinsk), three from Ukraine (Kiev, Lviv, Lugansk), three populations from Capetown in South Africa, three from Ravenna, Rimini and Val Marecchia in Italy, one from Hungary, one from Peru and one from Oran in Algeria.

Mating patterns amongst Siberian reindeer hunters

Am J Phys Anthropol. 2007 Jul;133(3):1013-27

Mating patterns amongst Siberian reindeer herders: inferences from mtDNA and Y-chromosomal analyses.

Pakendorf B, Novgorodov IN, Osakovskij VL, Stoneking M.

The Evenks and Evens, who speak closely related languages belonging to the Northern Tungusic branch of the Tungusic family, are nomadic reindeer herders and hunters. They are spread over an immense territory in northeastern Siberia, and consequently different subgroups are in contact with diverse peoples speaking Samoyedic, Turkic, Mongolic, Chukotka-Kamchatkan, and Yukaghir languages. Nevertheless, the languages and culture of the Evenks and Evens are similar enough for them to have been classified as a single ethnic group in the past. This linguistic and cultural similarity indicates that they may have spread over their current area of habitation relatively recently, and thus may be closely related genetically. On the other hand, the great distances that separate individual groups of Evens and Evenks from each other might have led to preferential mating with geographic neighbors rather than with linguistically related peoples. In this study, we assess the correlation between linguistic and genetic relationship in three different subgroups of Evenks and Evens, respectively, via mtDNA and Y-chromosomal analyses. The results show that there is some evidence of a common origin based on shared mtDNA lineages and relatively similar Y-haplogroup frequencies amongst most of the Evenk and Even subgroups. However, there is little sharing of Y-chromosomal STR haplotypes, indicating that males within Evenk and Even subgroups have remained relatively isolated. There is further evidence of some female admixture in different Even subgroups with their respective geographic neighbors. However, the Tungusic groups, and especially the Evenks, show signs of genetic drift, making inferences about their prehistory difficult.

Link

Distribution of Genghis Khan's descendants

Genetika. 2007 Mar;43(3):422-6.

[Distribution of the male lineages of Genghis Khan's descendants in northern Eurasian populations]

[Article in Russian]

[No authors listed]

Data on the variation of 12 microsatellite loci of Y-chromosome haplogroup C3 were used to screen lineages included in the cluster of Genghis Khan's descendants in 18 northern Eurasian populations (Altaian Kazakhs, Altaians-Kizhi, Teleuts, Khakassians, Shorians, Tyvans, Todjins, Tofalars, Sojots, Buryats, Khamnigans, Evenks, Mongols, Kalmyks, Tajiks, Kurds, Persians, and Russians; the total sample size was 1437 people). The highest frequency of haplotypes from the cluster of the Genghis Khan's descendants was found in Mongols (34.8%). In Russia, this cluster was found in Altaian Kazakhs (8.3%), Altaians (3.4%), Buryats (2.3%), Tyvans (1.9%), and Kalmyks (1.7%).

Link

New edition of YHRD database is online

From the curators of YHRD:

Hi Dienekes,

we have launched release 20 of the YHRD database, the largest update ever with 4,755 new haplotypes. See the news below and a geographical overview as an attachment.

December 28 YHRD update (Lutz Roewer, Sascha Willuweit)

The largest update since the database was started in 2000! Release 20 is out with 46,720 haplotypes in 386 populations. 44,863 haplotypes of these are completely typed for 9 and 17,824 for 11 loci. Twenty-nine populations were added today: from Ningxia in China (Han), from Qinghai in China (Salar), from Hungary including Romani speakers, from Germany (Bonn), from Sweden (Saami from Jokkmokk), from Norway (Bergen), from Libya (Tripolis), from Yemen (Sanaa), from Mexico (Chihuahua and Mexico City), from Serbia (Novi Sad), from Siberia (Stony Tunguska Evenks, Yakut speaking Evenks, Yakuts, Yukaghir, Tuva), from Western Russia (Belgorod, Kaluga, Mineralnye Vody, Nizhnii Novgorod, Orel, Pskov, Saratov, Tula, Vladimir, Volot, Yaroslavl) and from Southeastern Poland. Ten populations were updated: from Colombia (province Antioquia), from Ningxia in China (Hui), from Taiwan (Han), from Norway (Eastern, Central, Northern, Southern, Western parts and from Oslo) as well as from Russia (Novgorod). In two populations erroneous allele calls were corrected: Taraz (Kazakhstan) and Andalucia/Extremadura (Spain). We would like to thank the following colleagues for submissions, updates and corrections: Bofeng Zhu and his group (Shaanxi, P.R.China), Pamszav Horolma and her group (Budapest, Hungary), Anke Junge and her group (Bonn, Germany), Cheng-Hwai Tzeng and his group (Taipei, Taiwan), Andreas Karlsson and his group (Linkoeping, Sweden), Anibal Gaviria and his group (Medellin, Colombia), Thomas Rothaemel and his group (Hannover, Germany), Berit Myhre Dupuy and her group (Oslo, Norway), Uta Immel and her group (Halle, Germany), Hector Rangel-Villalobos and his group (Ocotlan, Mexico), Miljen Maletin and his group (Novi Sad, Serbia), Brigitte Pakendorf and her group (Leipzig, Germany), Marcin Wozniak and his group (Bydgoszcz, Poland), Grzegorz Kaczmarczyk and his group (Krakow, Poland) and Maria Jose Farfan and her group (Sevilla, Spain).

We wish you a happy new year !

Lutz Roewer, Sascha Willuweit
YHRD curators

Y chromosomes of South Siberians

A very interesting paper about South Siberia, a contact region between Caucasoids and Mongoloids right in the middle of Asia. First, the anthropological picture, which has been established for quite some time:

Unfortunately, archaeological records alone with the lack of human skeletal remains are inconclusive about the anthropological traits, which were characteristic for the Upper Paleolithic Siberian population. East Asian features thought to have been derived from early modern East Asians exist in the tooth from the Denisova Cave in the Altai region and in human remains from the Afontova Gora II site and indicate that the East Asians had moved into southwestern Siberia by 21,000 B.P. or even earlier (Alekseev 1998). Yet, the Upper Paleolithic artifacts from the 23,000-year-old Mal’ta site near Lake Baikal in south-central Siberia (Medvedev et al. 1996) have been found in association with skeletal remains that bear similar morphology with contemporary anatomically modern humans teeth from Europe thus providing the evidence for links between Siberia and the West during the Upper Paleolithic. Thus, on assuming that during the Upper Paleolithic the population of South Siberia was closely related to other East Asian populations, then during the Neolithic, admixture with populations from Eastern Europe probably occurred. The prevalence of European features among steppe zone inhabitants of Tuva, Altai, Khakassia, and West Mongolia became the most significant since the Bronze Age or even earlier (Alexeev and Gohman 1984; Alexeev 1989). The boundary of the Eastern European influence is clearly fixed at Lake Baikal. To the east of Baikal no palaeoanthropological find bears any traces of European admixture (Alekseev 1998).

Of importance is the discovery that R1a1 chromosomes in Siberians and Eastern Europeans are differentiated, and are both quite old, predating the spread of the Kurgan culture.

Divergency estimates based on Y-chromosome microsatellite variation indicate that, despite the haplotype diversity value of Eastern European R1a1-lineages exceeds that in South Siberia, the estimated ages for this haplogroup are almost equal in both regional groups—11,270±4,070 years in South Siberia and 11,380±3,200 years in Eastern Europe. These values are very close to the divergence time between the two regional groups studied (10,310±3,140 years). These results suggest that an isolation of the regional groups occurred soon after the origin of the R1a1 haplogroup.

Finally, here are the haplogroup frequencies in the various populations tested.



Update: The most frequent haplotype (#40) in Siberians, defined over (DYS19, DYS385a, DYS385b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439) is: 16 11 14 14 18 25 11 11 13 14 11 10. This was not found in the extensive Russian sample, so it may represent a quite distinctive Central Asian haplotype.

Interestingly, a search in YHRD with this haplotype revealed only a single match in the Hungarian-speaking sample Lunca de Sus, Romania [Csángó]. This may serve to illustrate the paucity of relevant samples in YHRD. If we exclude DYS438 and DYS439 which are not typed in all samples in YHRD, then additional matches are found in Central Anatolian Turks, Szekely (also Hungarian-speaking) from Romania and in Ljubljana, Slovenia. If we further remove the fast-mutating DYS385 markers, then the following matches are found.



Let's hope that more Central Asian and Siberian samples are added to YHRD soon!

Human Genetics (Early view)

Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions

Miroslava Derenko et al.

Abstract In order to investigate the genetic history of autochthonous South Siberian populations and to estimate the contribution of distinct patrilineages to their gene pools, we have analyzed 17 Y-chromosomal binary markers (YAP, RPS4Y711, SRY-8299, M89, M201, M52, M170, 12f2, M9, M20, 92R7, SRY-1532, DYS199, M173, M17, Tat, and LLY22 g) in a total sample of 1,358 males from 14 ethnic groups of Siberia (Altaians-Kizhi, Teleuts, Shors, Tuvinians, Todjins, Tofalars, Sojots, Khakassians, Buryats, Evenks), Central/Eastern Asia (Mongolians and Koreans) and Eastern Europe (Kalmyks and Russians). Based on both, the distribution pattern of Y-chromosomal haplogroups and results on AMOVA analysis we observed the statistically significant genetic differentiation between the populations of Baikal and Altai–Sayan regions. We suggest that these regional differences can be best explained by different contribution of Central/Eastern Asian and Eastern European paternal lineages into gene pools of modern South Siberians. The population of the Baikal region demonstrates the prevalence of Central/Eastern Asian lineages, whereas in the populations of Altai and Sayan regions the highest paternal contribution resulted from Eastern European descent is revealed. Yet, our data on Y-chromosome STRs variation demonstrate the clear differences between the South Siberian and Eastern European R1a1-lineages with the evolutionary ages compatible with divergence time between these two regional groups.

Link

mtDNA and Y chromosomes of Yakuts

In agreement with a recent autosomal DNA study on the Yakuts, this ethnic group is characterized by mainly Mongoloid mtDNA haplogroups (A, B, C, D, G, and F) as well as the Uralic-Mongoloid Y-haplogroup N3.

Genetika. 2003 Jul;39(7):975-81. Related Articles, Links

[MtDNA and Y-chromosome lineages in the Yakut population]

Puzyrev VP et al.

The structure of female (mtDNA) and male (Y-chromosome haplotypes) lineages in the Yakut population was examined. To determine mtDNA haplotypes, sequencing of hypervariable segment I and typing of haplotype-specific point substitutions in the other parts of the mtDNA molecule were performed. Y haplogroups were identified through typing of biallelic polymorphisms in the nonrecombining part of the chromosome. Haplotypes within haplogroups were analyzed with seven microsatellite loci. Mitochondrial gene pool of Yakuts is mainly represented by the lineages of eastern Eurasian origin (haplogroups A, B, C, D, G, and F). In Yakuts haplogroups C and D showing the total frequency of almost 80% and consisting of 12 and 10 different haplopypes, respectively, were the most frequent and diverse. The total part of the lineages of western Eurasian origin ("Caucasoid") was about 6% (4 haplotypes, haplogroups H, J, and U). Most of Y chromosomes in the Yakut population (87%) belonged to haplogroup N3 (HG16), delineated by the T-C substitution at the Tat locus. Chromosomes of haplogroup N3 displayed the presence of 19 microsatellite haplotypes, the most frequent of which encompassed 54% chromosomes of this haplogroup. Median network of haplogroup N3 in Yakuts demonstrated distinct "starlike phylogeny". Male lineages of Yakuts were shown to be closest to those of Eastern Evenks.

Link