mtDNA from Xinjiang

mtDNA from Xinjiang

A new study quantifies the level of Caucasoid admixture in various populations of the Xinjiang province of China, which ranges from 0% in the Han Chinese to 43% in the Uygur.

Mol Biol Evol. 2004 Aug 18 [Epub ahead of print]

Different Matrilineal Contributions to Genetic Structure of Ethnic Groups in the Silk Road Region in China.

Yao YG

Previous studies have shown that there were extensive genetic admixtures in the Silk Road region. In the present study, we analyzed 252 mtDNAs of five ethnic groups (Uygur, Uzbek, Kazak, Mongolian, and Hui) from Xinjiang Province, China (where once was the via route of the Silk Road), together with some reported data from the adjacent regions in Central Asia. In a simple way, we classified the mtDNAs into different haplogroups (monophyletic clades in the rooted mtDNA tree) according to the available phylogenetic information and compared their frequencies to show the differences among the matrilineal genetic structures of these populations with different demographic histories. With the exception of 8 unassigned M(*), N(*) and R(*) mtDNAs, all the mtDNA types identified here belonged to defined subhaplogroups of haplogroups M and N (including R) and consisted of subsets of both the eastern and western Eurasian pools, thus providing direct evidence in supporting the suggestion that Central Asia be the place of the genetic admixture of the East and the West. Although our samples were from the same geographic location, a decreasing tendency of the western Eurasian-specific haplogroup frequency was observed, with the highest frequency present in Uygur (42.6%) and Uzbek (41.4%), followed by Kazak (30.2%), Mongolian (14.3%), and Hui (6.7%). No western Eurasian type was found in Han Chinese samples from the same place. The frequencies of the eastern Eurasian-specific haplogroups also varied in these samples. Combined with the historical records, ethno-origin, migratory history, and marriage custom might play different roles in shaping the matrilineal genetic structure of different ethnic populations resided in this region.

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mtDNA of ancient central Asians

mtDNA of ancient central Asians

An interesting new paper confirms the anthropological and archaeological picture of a westward spread of Caucasoids in Central Asia in early prehistoric times, followed by the spread of Mongoloids in the opposite direction during the 1st millennium BC. The Caucasoid-Mongoloid hybrid population resulting from these interactions is similar in terms of mtDNA with present-day Central Asians with some noted differences (e.g., presence of additional West Eurasian haplogroups). In the ancient samples, West Eurasian haplogroups H, HV, I, T*, T1, U*, U1, U5, U5a1 and W were represented:

• HV sequences have matches in the Central Mediterranean region
• H sequences are split between the common Cambridge Reference Sequence (CRS) found in many populations, and two other sequences found in the Central Mediterranean and the Caucasus
• The I sequence is present in a modern Central Asian and also in individuals from the Caucasus
• The W sequence is widespread in West Eurasia
• T* sequences are widespread in Europe, the Near East and the Central Mediterranean region
• T1 is widespread in West Eurasia, but also found sporadically in East Eurasia
• The U1a sequences are found in Turks, Armenians and Caucasians
• The U5a sequence has been found in an Egyptian
• The U5a1 sequence is frequent in the Caucasus and present in Europe, while a different U5a1 was reported previously in Mongolia

The East Eurasian haplogroups belong to A*, M*, M4 and G2:

• The M* sequence was observed in an Indian individual
• The M4 sequence has not been previously reported
• The G2 sequence is found in present-day China and Central Asia
• One A sequence is found in present-day Central Asians and Indians, while the other two have a motif found in a modern Chukchi

Most (78%) of the sequences are of West Eurasian (Caucasoid) origin, but before the 7th c. BC, East Eurasian (Mongoloid) sequences are absent, although they could be present up to 20.6% (p<0.05).
Proc R Soc Lond B Biol Sci. 2004 May 7;271(1542):941-7. 

Unravelling migrations in the steppe: mitochondrial DNA sequences from ancient central Asians.
Lalueza-Fox C et al.

This study helps to clarify the debate on the Western and Eastern genetic influences in Central Asia. Thirty-six skeletal remains from Kazakhstan (Central Asia), excavated from different sites dating between the fifteenth century BC to the fifth century AD, have been analysed for the hypervariable control region (HVR-I) and haplogroup diagnostic single nucleotide polymorphisms (SNPs) of the mitochondrial DNA genome. Standard authentication criteria for ancient DNA studies, including multiple extractions, cloning of PCR products and independent replication, have been followed. The distribution of east and west Eurasian lineages through time in the region is concordant with the available archaeological information: prior to the thirteenth-seventh century BC, all Kazakh samples belong to European lineages; while later an arrival of east Eurasian sequences that coexisted with the previous west Eurasian genetic substratum can be detected. The presence of an ancient genetic substratum of European origin in West Asia may be related to the discovery of ancient mummies with European features in Xinjiang and to the existence of an extinct Indo-European language, Tocharian. This study demonstrates the usefulness of the ancient DNA in unravelling complex patterns of past human migrations so as to help decipher the origin of present-day admixed populations.

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