A study of genetic diversity of three isolated populations in Xinjiang using Y-SNP

indo-european-indo-iranian-migrations

New open access paper (in Chinese) A study of genetic diversity of three isolated populations in Xinjiang using Y-SNP, by liu et al. Acta Anthropologica Sinitica (2018)

Abstract:

The Keriyan, Lopnur and Dolan peoples are isolated populations with sparse numbers living in the western border desert of our country. By sequencing and typing the complete Y-chromosome of 179 individuals in these three isolated populations, all mutations and SNPs in the Y-chromosome and their corresponding haplotypes were obtained. Types and frequencies of each haplotype were analyzed to investigate genetic diversity and genetic structure in the three isolated populations. The results showed that 12 haplogroups were detected in the Keriyan with high frequencies of the J2a1b1 (25.64%), R1a1a1b2a (20.51%), R2a (17.95%) and R1a1a1b2a2 (15.38%) groups. Sixteen haplogroups were noted in the Lopnur with the following frequencies: J2a1 (43.75%), J2a2 (14.06%), R2 (9.38%) and L1c (7.81%). Forty haplogroups were found in the Dolan, noting the following frequencies: R1b1a1a1 (9.21%), R1a1a1b2a1a (7.89%), R1a1a1b2a2b (6.58%) and C3c1 (6.58%). These data show that these three isolated populations have a closer genetic relationship with the Uygur, Mongolian and Sala peoples. In particular, there are no significant differences in haplotype and frequency between the three isolated populations and Uygur (f=0.833, p=0.367). In addition, the genetic haplotypes and frequencies in the three isolated populations showed marked Eurasian mixing illustrating typical characteristics of Central Asian populations.

population-distribution-map
Figure 1. The populations distribution map. Left: Uluru. Center: Dali Yabuyi. Right: Kaerqu.

My knowledge of written Chinese is almost zero, so here are some excerpts with the help of Google Translate:

The source of 179 blood samples used in the study is shown in Figure 1. The Keriyan blood samples were collected from Dali Yabuyi Township, Yutian County (39 samples). The blood samples of the Lopnur people were collected from Kaerqu Township, Yuli County (64 cases); the blood samples of the Dolan people were collected from the town of Uluru, Awati County (76).

haplotype-frequency-uighur
Columns one and two are the Keriyan haplotypes and frequencies, respectively; the third and fourth columns are the Lopnur haplotypes and frequencies; the last four columns are the Daolang haplotypes and frequencies.

The composition and frequency of the Keriyan people’s haplogroup are closest to those of the Uighurs, and both Principal Component Analysis and Phylogenetic Tree Analysis show that their kinship is recent. We initially infer that the Keriyan are local desert indigenous people. They have a connection with the source of the Uighurs. Chen et al. [42] studied the patriarchal and maternal genetic analysis of the Keriyan people and found that they are not descendants of the Tibetan ethnic group in the West. The Keriyan people are a mixed group of Eastern and Western Europeans, which may originate from the local Vil group. Duan Ranhui [43] and other studies have shown that the nucleotide variability and average nucleotide differences in the Keriyan population are between the reported Eastern and Western populations. The phylogenetic tree also shows that the populations in Central Asia are between the continental lineage of the eastern population and the European lineage of the western population, and the genetic distance between the Keriyan and the Uighurs is the closest, indicating that they have a close relationship.

y-chromosome-pca

Regarding the origin of the Lopnur people, Purzhevski judged that it was a mixture of Mongolians and Aryans according to the physical characteristics of the Lopnur people. In 1934, the Sino-Swiss delegation discovered the famous burials of the ancient tombs in the Peacock River. After research, they were the indigenous people before the Loulan period; the researcher Yang Lan, a researcher at the Institute of Cultural Relics of the Chinese Academy of Social Sciences, said that the Lopnur people were descendants of the ancient “Landan survivors”. However, the Loulan people speaking an Indo-European language, and the Lopnur people speaking Uyghur languages contradict this; the historical materials of the Western Regions, “The Geography of the Western Regions” and “The Western Regions of the Ming Dynasty” record the Uighurs who lived in Cao Cao in the late 17th and early 18th centuries. Because of the occupation of the land by the Junggar nobles and their oppression, they fled. Some of them were forced to move to the Lop Nur area. There are many similar archaeological discoveries and historical records. We have no way to determine their accuracy, but they are at different times, and there is a great difference in what is heard in the same region. (…) The genetic characteristics of modern Lopnur people are the result of the long-term ethnic integration of Uyghurs, Mongols, and Europeans. This is also consistent with the similarity of the genetic structure of the Y chromosome of Lopnur in this study with the Uighurs and Mongolians. For example, the frequency of J haplogroup is as high as 59.37%, while J and its downstream sub-haplogroup are mainly distributed in western Europe, West Asia and Central Asia; the frequency of O, R haplogroup is close to that of Mongolians.

y-chromosome-frequency
1) KA: Keriya, LB: Rob, DL: Daolang, HTW: Hetian Uygur, HTWZ: and Uygur, TLFW: Turpan Uighur, HZ: Hui, HSKZ: Kazakh, WZBKZ: Wuhuan Others, TJKZ: Tajik, KEKZZ: Kirgiz, TTEZ: Tatar, ELSZ: Russian XBZ: Xibo, MGZ: Mongolian, SLZ: Salar, XJH: Xinjiang Han, GSH: Gansu Han, GDH: Guangdong Han SCH: Sichuan Han. 2) Reference population data source literature 19-22. After the population names in the table have been marked, all the shorthands in the text are referred to in this table. 3) Because the degree of haplotypes of each reference population is different to each sub-group branch, the sub-group branches under the same haplogroup are merged when the population haplogroup data is aggregated, for example: for haplogroup G Some people are divided into G1a and G2a levels, others are assigned to G1, G2, and G3, while some people can only determine G this time. Therefore, each subgroup is merged into a single group G.

According to Ming History·Western Biography, the Mongolians originated from the Mobei Plateau and later ruled Asia and Eastern Europe. Mongolia was established, and large areas of southern Xinjiang and Central Asia were included. Later, due to the Mongolian king’s struggle for power, it fell into a long-term conflict. People of the land fled to avoid the war, and the uninhabited plain of the lower reaches of the Yarkant River naturally became a good place to live. People from all over the world gathered together and called themselves “Dura” and changed to “Dang Lang”. The long-term local Uyghur exchanges that entered the southern Mongolian monks and “Dura” were gradually assimilated [44]. According to the report, locals wore Mongolian clothes, especially women who still maintained a Mongolian face [45]. In 1976, the robes and waistbands found in the ancient time of the Daolang people in Awati County were very similar to those of the ancients. Dalang Muqam is an important part of Daolang culture. It is also a part of the Uyghur Twelve Muqam, and it retains the ancient Western culture, but it also contains a larger Mongolian culture and relics. The above historical records show that the Daolang people should appear in the Chagatai Khanate and be formed by the integration of Mongolian and Uighur ethnic groups. Through our research, we also found that the paternal haplotype of the Daolang people is contained in both Uygur and Mongolian, and the main haplogroups are the same, whereas the frequencies are different (see Table 3). The principal component analysis and the NJ analysis are also the same. It is very close to the Uyghur and the Mongolian people, which establishes new evidence for the “mixed theory” in molecular genetics.

main-haplogroup-uighur
Genetic relationship between the three isolated populations: the Uygur and the Mongolian is the closest, and the main haplogroup can more intuitively compare the source composition of the genetic structure of each population. Haplogroups C, D, and O are mainly distributed in Asia as the East Asian characteristic haplogroup; haplogroups G, J, and R are mainly distributed in continental Europe, and the high frequency distribution is in Europe and Central Asia.

If the nomenclature follows a recent ISOGG standard, it appears that:

The presence of exclusively R1a-Z93 subclades and the lack of R1b-M269 samples is compatible with the expansion of R1a-Z93 into the area with Proto-Tocharians, at the turn of the 3rd-2nd millennium BC, as suggested by the Xiaohe samples, supposedly R1a(xZ93).

Now that it is obvious from ancient DNA (as it was clear from linguistics) that Pre-Tocharians separated earlier than other Late PIE peoples, with the expansion of late Khvalynsk/Repin into the Altai, at the end of the 4th millennium, these prevalent R1a (probably Z93) samples may be showing a replacement of Pre-Tocharian Y-DNA with the Andronovo expansion already by 2000 BC.

Lacking proper assessment of ancient DNA from Proto-Tocharians, this potential early Y-DNA replacement is still speculative*. However, if that is the case, I wonder what the Copenhagen group will say when supporting this, but rejecting at the same time the more obvious Y-DNA replacement in East Yamna / Poltavka in the mid-3rd millennium with incoming Corded Ware-related peoples. I guess the invention of an Indo-Tocharian group may be near…

*NOTE. The presence of R1b-M269 among Proto-Tocharians, as well as the presence of R1b-M269 among Tarim Basin peoples in modern and ancient times is not yet fully discarded. The prevalence of R1a-Z93 may also be the sign of a more recent replacement by Iranian peoples, before the Mongolian and Turkic expansions that probably brought R1b(xM269).

Also, the presence of R1b (xM269) samples in east Asia strengthens the hypothesis of a back-migration of R1b-P297 subclades, from Northern Europe to the east, into the Lake Baikal area, during the Early Mesolithic, as found in the Botai samples and later also in Turkic populations – which are the most likely source of these subclades (and probably also of Q1a2 and N1c) in the region.

Related

Consequences of Damgaard et al. 2018 (II): The late Khvalynsk migration waves with R1b-L23 lineages

chalcolithic_early-asia

This post should probably read “Consequences of Narasimhan et al. (2018),” too, since there seems to be enough data and materials published by the Copenhagen group in Nature and Science to make a proper interpretation of the data that will appear in their corrected tables.

The finding of late Khvalynsk/early Yamna migrations, identified with early LPIE migrants almost exclusively of R1b-L23 subclades is probably one of the most interesting findings in the recent papers regarding the Indo-European question.

Although there are still few samples to derive fully-fledged theories, they begin to depict a clearer idea of waves that shaped the expansion of Late Proto-Indo-European migrants in Eurasia during the 4th millennium BC, i.e. well before the expansion of North-West Indo-European, Palaeo-Balkan, and Indo-Iranian languages.

Late Khvalynsk expansions and archaic Late PIE

Like Anatolian, Tocharian has been described as having a more archaic nature than the rest of Late PIE. However, Pre-Tocharian belongs to the Late PIE trunk, clearly distinguishable phonetically and morphologically from Anatolian.

It is especially remarkable that – even though it expanded into Asia – it has more in common with North-West Indo-European, hence its classification (together with NWIE) as part of a Northern group, unrelated to Graeco-Aryan.

The linguistic supplement by Kroonen et al. accepts that peoples from the Afanasevo culture (ca. 3000-2500 BC) are the most likely ancestors of Tocharians.

NOTE. For those equating the Tarim Mummies (of R1a-Z93 lineages) with Tocharians, you have this assertion from the linguistic supplement, which I support:

An intermediate stage has been sought in the oldest so-called Tarim Mummies, which date to ca. 1800 BCE (Mallory and Mair 2000; Wáng 1999). However, also the language(s) spoken by the people(s) who buried the Tarim Mummies remain unknown, and any connection between them and the Afanasievo culture on the one hand or the historical speakers of Tocharian on the other has yet to be demonstrated (cf. also Mallory 2015; Peyrot 2017).

New samples of late Khvalynsk origin

These are are the recent samples that could, with more or less certainty, correspond to migration waves from late Khvalynsk (or early Yamna), from oldest to most recent:

  • The Namazga III samples from the Late Eneolithic period (in Turkmenistan), dated ca. 3360-3000 BC (one of haplogroup J), potentially showing the first wave of EHG-related steppe ancestry into South Asia. Not related to Indo-Iranian migrations.

NOTE. A proper evaluation with further samples from Narasimhan et al. (2018) is necessary, though, before we can assert a late Khvalynsk origin of this ancestry.

  • Afanasevo samples, dated ca. 3081-2450 BC, with all samples dated before ca. 2700 BC uniformly of R1b-Z2103 subclades, sharing a common genetic cluster with Yamna, showing together the most likely genomic picture of late Khvalynsk peoples.

NOTE 1. Anthony (2007) put this expansion from Repin ca. 3300-3000 BC, while his most recent review (2015) of his own work put its completion ca. 3000-2800. While the migration into Afanasevo may have lasted some time, the wave of migrants (based on the most recent radiocarbon dates) must be set at least before ca. 3100 BC from Khvalynsk.

NOTE 2. I proposed that we could find R1b-L51 in Afanasevo, presupposing the development of R1b-L51 and R1b-Z2103 lineages with separating clans, and thus with dialectal divisions. While finding this is still possible within Khvalynsk regions, it seems we will have a division of these lineages already ca. 4250-4000 BC, which would require a closer follow-up of the different inner late Khvalynsk groups and their samples. For the moment, we don’t have a clear connection through lineages between North-West Indo-European groups and Tocharian.

tocharian-early-copper-age
Early Copper Age migrations in Asia ca. 3300-2800, according to Anthony (2015).
  • Subsequent and similar migration waves are probably to be suggested from the new sample of Karagash, beyond the Urals (attributed to the Yamna culture, hence maintaining cultural contacts after the migration waves), of R1b-Z2103 subclade, ca. 3018-2887 BC, potentially connected then to the event that caused the expansion of Yamna migrants westward into the Carpathians at the same time. Not related to Indo-Iranian migrations.
  • The isolated Darra-e Kur sample, without cultural adscription, ca. 2655 BC, of R1b-L151 lineage. Not related to Indo-Iranian migrations.
  • The Hajji Firuz samples: I4243 dated ca. 2326 BC, female, with a clear inflow of steppe ancestry; and I2327 (probably to be dated to the late 3rd millennium BC or after that), of R1b-Z2103 lineage. Not related to Indo-Iranian migrations.

NOTE. A new radiocarbon dating of I2327 is expected, to correct the currently available date of 5900-5000 BC. Since it clusters nearer to Chalcolithic samples from the site than I4243 (from the same archaeological site), it is possible that both are part of similar groups receiving admixture around this period, or maybe I2327 is from a later period, coinciding with the Iron Age sample F38 from Iran (Broushaki et al. 2016), with which it closely clusters. Also, the finding of EHG-related ancestry in Maykop samples dated ca. 3700-3000 BC (maybe with R1b-L23 subclades) offers another potential source of migrants for this Iranian group.

NOTE. Samples from Narasimhan et al. (2018) still need to be published in corrected tables, which may change the actual subclades shown here.

These late Khvalynsk / early Yamna migration waves into Asia are quite early compared to the Indo-Iranian migrations, whose ancestors can only be first identified with Volga-Ural groups of Yamna/Poltavka (ca. 3000-2400 BC), with its fully formed language expanding only with MLBA waves ca. 2300-1200 BC, after mixing with incoming Abashevo migrants.

While the authors apparently forget to reference the previous linguistic theories whereby Tocharian is more archaic than the rest of Late PIE dialects, they refer to the ca. 1,000-year gap between Pre-Tocharian and Proto-Indo-Iranian migrations, and thus their obvious difference:

The fact that Tocharian is so different from the Indo-Iranian languages can only be explained by assuming an extensive period of linguistic separation.

Potential linguistic substrates in the Middle East

A few words about relevant substrate language proposals.

Euphratic language

What Gordon Whittaker proposes is a North-West Indo-European-related substratum in Sumerian language and texts ca. 3500 BC, which may explain some non-Sumerian, non-Semitic word forms. It is just one of many theories concerning this substratum.

eneolithic_steppe
Diachronic map of Eneolithic migrations ca. 4000-3100 BC

This is a summary of his findings from his latest writing on the subject (a chapter of a book on Indo-European phonetics, from the series Copenhagen Studies in Indo-European):

In Sumerian and Akkadian vocabulary, the cuneiform writing system, and the names of deities and places in Southern Mesopotamia a body of lexical material has been preserved that strongly suggests influence emanating from a superstrate of Indo-European origin. his Indo-European language, which has been given the name Euphratic, is, at present, attested only indirectly through the filters of Sumerian and Akkadian. The attestations consist of words and names recorded from the mid-4th millennium BC (Late Uruk period) onwards in texts and lexical lists. In addition, basic signs that originally had a recognizable pictorial structure in proto-cuneiform preserve (at least from the early 3rd millennium on) a number of phonetic values with no known motivation in Sumerian lexemes related semantically to the items depicted. This suggests that such values are relics from the original logographic values for the items depicted and, thus, that they were inherited from a language intimately associated with the development of writing in Mesopotamia. Since specialists working on proto-cuneiform, most notably Robert K. Englund of the Cuneiform Digital Library Initiative, see little or no evidence for the presence of Sumerian in the corpus of archaic tablets, the proposed Indo-European language provides a potential solution to this problem. It has been argued that this language, Euphratic, had a profound influence on Sumerian, not unlike that exerted by Sumerian and Akkadian on each other, and that the writing system was the primary vehicle of this influence. he phonological sketch drawn up here is an attempt to chart the salient characteristics of this influence, by comparing reconstructed Indo-European lexemes with similarly patterned ones in Sumerian (and, to a lesser extent, in Akkadian).

His original model, based on phonetic values in basic proto-cuneiform signs, is quite imaginative and a very interesting read, if you have the time. His Academia.edu account hosts most of his papers on the subject.

We could speculate about the potential expansion of this substrate language with the commercial contacts between Uruk and Maykop (as I did), now probably more strongly supported because of the EHG found in Maykop samples.

NOTE. We could also put it in relation with the Anatolian language of Mari, but this would require a new reassessment of its North-West Indo-European nature.

Nevertheless, this theory is far from being mainstream, anywhere. At least today.

NOTE. The proposal remains still hypothetic, because of the flaws in the Indo-European parallels – similar to Koch’s proposal of Indo-European in Tartessian inscriptions. A comprehensive critic approach to the theory is found in Sylvie Vanséveren’s A “new” ancient Indo-European language? On assumed linguistic contacts between Sumerian and Indo-European “Euphratic”, in JIES (2008) 36:3&4.

Gutian language

References to Gutian are popping up related to the Hajji Firuz samples of the mid-3rd millennium.

The hypothesis was put forward by Henning (1978) in purely archaeological terms.

This is the relevant excerpt from the book:

(…) Comparativists have asserted that, in spite of its late appearance, Tokharian is a relatively archaic form of Indo-European.3 This claim implies that the speakers of this group separated from their Indo-European brethren at a comparatively early date. They should accordingly have set out on their migrations rather early, and should have appeared within the Babylonian sphere of influence also rather early. Earlier, at any rate, than the Indo-Iranians, who spoke a highly developed (therefore probably later) form of Indo-European. Moreover, as some of the Indo-Iranians after their division into Iranians and Indo-Aryans4 appeared in Mesopotamia about 1500 B.C., we should expect the Proto-Tokharians about 2000 B.C. or even earlier.

If, armed with these assumptions as our working hypothesis, we look through the pages of history, we find one nation – one nation only – that perfectly fulfills all three conditions, which, therefore, entitles us to recognize it as the “Proto-Tokharians”. Tis name was Guti; the intial is also spelled with q (a voiceless back velar or pharyngeal), but the spelling with g is the original one. The closing -i is part of the name, for the Akkadian case-endings are added to it, nom. Gutium etc. Guti (or Gutium, as some scholars prefer) was valid for the nation, considered as an entity, but also for the territory it occupied.
(…).

The text goes on to follow the invasion of Babylonia by the Guti, and further eastward expansions supposedly connected with these, to form the attested Tocharians.

The referenced text by Thorkild Jakobsen offers the interesting linguistic data:

Among the Gutian rulers is one Elulumesh, whose name is evidently Akkadian Elulum slightly “Gutianized” by the Gutian case(?) ending -eš.40 This Gutian ruler Elulum is obviously the same man whom we find participating in the scramble for power after the death of Shar-kali-sharrii; his name appears there in Sumerian form without mimation as Elulu.

The Gutian dynasty, from ca. 22nd c. BC appears as follows:

gutian-rulers

I don’t think we could derive a potential relation to any specific Indo-European branch from this simple suffix repeated in Gutian rulers, though.

The hypothesis of the Tocharian-like nature of the Guti (apart from the obvious error of considering them as the ancestors of Tocharians) remains not contrasted in new works since. It was cited e.g. by Gamkrelidze and Ivanov (1995) to advance their Armenian homeland, and by Mallory and Adams in their Encyclopedia (1997).

It lies therefore in the obscurity of undeveloped archaeological-linguistic hypotheses, and its connection with the attested R1b-Z2103 samples from Iran is not (yet) warranted.

Related: