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Haplogroup O3 (M122) is a descendant haplogroup of haplogroup O. Some researchers believe that it first appeared in China approximately 10,000 years ago. The prehistoric peopling of East Asia by modern humans remains controversial with respect to early population migrations. In a systematic sampling and genetic screening of an East Asian–specific Y-chromosome haplogroup (O3-M122) in 2,332 individuals from diverse East Asian populations, results indicate that the O3-M122 lineage is dominant in East Asian populations, with an average frequency of 44.3%.

Distribution: Although Haplogroup O3 appears to be primarily associated with Chinese populations, it also forms a significant component of the Y-chromosome diversity of most modern populations of the East Asian region. Haplogroup O3 is found in over 50% of all modern Chinese males (with frequency ranging from 30/101 = 29.7% among Pinghua-speaking Hans in Guangxi to 110/148 = 74.3% among Hans in Changting, Fujian), about 40% of Manchu, Korean, and Vietnamese males, about 33.3% to 62% of Filipino males, about 10.5% to 55.6% of Malaysian males, about 10% (4/39 Guide County, Qinghai) to 45% (22/49 Zhongdian County, Yunnan) of Tibetan males, about 20% (10/50 Shuangbai, northern Yunnan) to 44% (8/18 Xishuangbanna, southern Yunnan) of Yi males, about 25% of Zhuang and Indonesian males, and about 16% to 20% of Japanese males. The distribution of Haplogroup O3 stretches far into Central Asia (approx. 40% of Dungans, 30% of Salars, 28% of Bonan, 24% of Dongxiang, 18% to 22.8% of Mongolians, 12% of Uyghurs, 9% of Kazakhs, 6.2% of Altayans, and 4.1% of Uzbeks) and Oceania (approx. 25% to 32.5% of Polynesians, 18% to 27.4% of Micronesians, and 5% of Melanesians), albeit with reduced frequencies of most subclades. It should be noted that Haplogroup O3* Y-chromosomes, which are not defined by any identified downstream markers, are actually more common among certain non-Han Chinese populations than among Han Chinese ones, and the presence of these O3* Y-chromosomes among various populations of Central Asia, East Asia, and Oceania is more likely to reflect a very ancient shared ancestry of these populations rather than the result of any historical events. It remains to be seen whether Haplogroup O3* Y-chromosomes can be parsed into distinct subclades that display significant geographical or ethnic correlations.

Haplogroup O3 is also found very frequently among populations of Northeast India (Garo 42/71 = 59.2%, Khasi 112/353 = 31.7%) and Nepal (Tamang 39/45 = 86.7%, Newar 14/66 = 21.2%, general population of Kathmandu 16/77 = 20.8%).

Among all the populations of East and Southeast Asia, Haplogroup O3 is most closely associated with those that speak a Sinitic, Tibeto-Burman, or Hmong-Mien language. Haplogroup O3 comprises about 50% or more of the total Y-chromosome variation among the populations of each of these language families. The Sinitic and Tibeto-Burman language families are generally believed to be derived from a common Sino-Tibetan protolanguage, and most linguists place the homeland of the Sino-Tibetan language family somewhere in northern China. The Hmong-Mien languages and cultures, for various archaeological and ethnohistorical reasons, are also generally believed to have derived from a source somewhere north of their current distribution, perhaps in northern or central China. The Tibetans, however, despite the fact that they speak a language of the Tibeto-Burman language family, have high percentages of the otherwise rare haplogroups D1 and D3, which are also found at much lower frequencies among the members of some other ethnic groups in East Asia and Central Asia.

Haplogroup O3 has been implicated as a diagnostic genetic marker of the Austronesian expansion when it is found in populations of Oceania. Its distribution in Oceania is mostly limited to the traditionally Austronesian culture zones, including moderately high frequencies in the Philippines, Malaysia, Indonesia, and Polynesia, with generally lower frequencies found in coastal and island Melanesia, Micronesia, and Taiwanese aboriginal tribes.

The subgroup O3a5-M134 is particularly closely associated with Sino-Tibetan populations, and it is generally not found outside of areas where a Sino-Tibetan language is currently spoken or that are historically supposed to have undergone Chinese colonization or immigration, such as Korea, Japan, Vietnam, Malaysia, the Philippines, and Indonesia. However, its presence among non-Sino-Tibetan populations is always very limited and never amounts to more than 10% of the total Y-chromosome diversity. There are also reports that Y-chromosomes belonging to Haplogroup O3a5 have been sampled from populations of such far-flung places as Western Samoa. Surprisingly, Haplogroup O3a5-M134 Y-chromosomes have also been found in about 1% to 3% of indigenous Australian men in the northwest of that continent, which might indicate that a certain degree of contact has occurred between the Austronesian expansion from Asia and some indigenous Australian populations. Within Japan, the subgroup O3a5-M134 forms the majority of the haplogroup O3 Y-chromosomes detected.

Haplogroup O3's brother clade, Haplogroup O1, displays a similar geographical distribution, being found among nearly all the populations of East and Southeast Asia, but generally at a frequency much lower than that of Haplogroup O3. Another brother clade, Haplogroup O2, has an impressive extent of dispersal, as it is found among the males of populations as widely separated as the Kolarians of India and the Japanese of Japan; however, Haplogroup O2's distribution is much more patchy, and the Haplogroup O2 Y-chromosomes found among the Mundas and the Japanese belong to distinct subclades.

Subclades: This phylogenetic tree of haplogroup subclades is based on ISOGG-2011

 

Haplogroup O3-M122: Found frequently among populations of East Asia, Southeast Asia, and culturally Austronesian regions of Oceania, with a moderate distribution in Central Asia.

 

 

* Y-Chromosome Evidence of Southern Origin of the East Asian Specific Haplogroup O3-M122 by Hong Shi, et al.

Abstract: The prehistoric peopling of East Asia by modern humans remains controversial with respect to early population migrations. Here, we present a systematic sampling and genetic screening of an East Asian–specific Y-chromosome haplogroup (O3-M122) in 2,332 individuals from diverse East Asian populations. Our results indicate that the O3-M122 lineage is dominant in East Asian populations, with an average frequency of 44.3%. The microsatellite data show that the O3-M122 haplotypes in southern East Asia are more diverse than those in northern East Asia, suggesting a southern origin of the O3-M122 mutation. It was estimated that the early northward migration of the O3-M122 lineages in East Asia occurred ∼25,000–30,000 years ago, consistent with the fossil records of modern humans in East Asia.

 

The Phylogenetic Relationships of the O3-M122 SNPs and Haplotypes

 

Distribution of the East Asian–Specific Y-Chromosome Haplogroups in Worldwide Populations

 

The Frequency Distribution of the O3-M122 Haplotypes in East Asian and Other Continental Populations

 

Distribution of the O3-M122 Haplotypes in the East Asian Populations Studied

 

The Contour Maps of the Y-Haplotype–Frequency Distribution

 

The mMp of Multidimensional Scaling Analysis Based on the O3-M122 SNP Haplotype Distribution

 

 

* Paternal Genetic Affinity Between Western Austronesians and Daic Populations by Hui Li, et al.

Geographic Distribution of Sampled Populations and Migration Routes Suggested by Y Chromosome Analysis

 

Y-SNP Haplogroup Frequencies of the Newly Studied Samples (%)

(C, D*, D1, F, M, K, O*, O1a*, O1a2, O2a*, O2a1, O3*, O3a1, O3a4, O3a5, O3a5a, P)

 

 

* The Northeast Indian Passageway: A Barrier or Corridor for Human Migrations? by Richard Cordaux, et al.

Map of India and East/Southeast Asia that indicates the frequency distribution of Y-haplogroup O-M134 (in black)

 

Y-Chromosome Haplogroup Frequencies in Four Northeast Indian Tribal Populations

(Adi, Apatani, Nishi, Naga)

 

 

* The Himalayas as a Directional Barrier to Gene Flow by Tenzin Gayden, et al.

Abstract: High-resolution Y-chromosome haplogroup analyses coupled with Y–short tandem repeat (STR) haplotypes were used to (1) investigate the genetic affinities of three populations from Nepal—including Newar, Tamang, and people from cosmopolitan Kathmandu (referred to as “Kathmandu” subsequently)—as well as a collection from Tibet and (2) evaluate whether the Himalayan mountain range represents a geographic barrier for gene flow between the Tibetan plateau and the South Asian subcontinent. The results suggest that the Tibetans and Nepalese are in part descendants of Tibeto-Burman–speaking groups originating from Northeast Asia. All four populations are represented predominantly by haplogroup O3a5-M134–derived chromosomes, whose Y-STR–based age (±SE) was estimated at 8.1±2.9 thousand years ago (KYA), more recent than its Southeast Asian counterpart. The most pronounced difference between the two regions is reflected in the opposing high-frequency distributions of haplogroups D in Tibet and R in Nepal. With the exception of Tamang, both Newar and Kathmandu exhibit considerable similarities to the Indian Y-haplogroup distribution, particularly in their haplogroup R and H composition. These results indicate gene flow from the Indian subcontinent and, in the case of haplogroup R, from Eurasia as well, a conclusion that is also supported by the admixture analysis. In contrast, whereas haplogroup D is completely absent in Nepal, it accounts for 50.6% of the Tibetan Y-chromosome gene pool. Coalescent analyses suggest that the expansion of haplogroup D derivatives—namely, D1-M15 and D3-P47 in Tibet—involved two different demographic events (5.1±1.8 and 11.3±3.7 KYA, respectively) that are more recent than those of D2-M55 representatives common in Japan. Low frequencies, relative to Nepal, of haplogroup J and R lineages in Tibet are also consistent with restricted gene flow from the subcontinent. Yet the presence of haplogroup O3a5-M134 representatives in Nepal indicates that the Himalayas have been permeable to dispersals from the east. These genetic patterns suggest that this cordillera has been a biased bidirectional barrier.

 

The Hierarchical Phylogenetic Relationships and Frequencies (in percentages) of the 24 Paternal Haplogroups Observed in Tibetan and Nepalese Populations

 

Geographic Distributions of Major Y-Chromosome Haplogroup Frequencies

 

 

* Genetic Affinities Among the Lower Castes and Tribal Groups of India: Inference from Y chromosome and Mitochondrial DNA by Ismail Thanseem, et al.

Y Chromosomal Haplogroups and Their Frequencies (%) in Three South Indian Tribal Populations

(Pardhan, Andh, Naikpod)

 

 

* Y-Chromosome Evidence Suggests a Common Paternal Heritage of Austro-Asiatic Populations by Vikrant Kumar, et al.

Rooted Maximum-Parsimony Tree of Haplogroups Defined by Binary Markers Along with Their Frequency in Different Groups

(Mundari, Khasi, Nicobarese, Garo)

 

The Isofrequency Map Portraying Spatial Distribution of Haplogroups in Asia and Oceania for O-M122

 

 

* Analyses of Genetic Structure of Tibeto-Burman Populations Reveals Sex-Biased Admixture in Southern Tibeto-Burmans by Bo Wen, et al.

Y-SNP Haplogroup Frequency in TB Populations

 

 

* Molecular Analysis of TBL1Y, a Y-Linked Homologue of TBL1X Related with X-Linked Late-Onset Sensorineural Deafness by Yan HT, et al.

Abstract: Recent progress in sequencing the human Y chromosome has unveiled a series of X-Y homologous genes. In the present study, we focused on Transducin beta-like 1Y (TBL1Y), which is a Y-linked homologue of TBL1X that is related with X-linked late-onset sensorineural deafness. Recently, it has been shown that TBLR1, another homologue whose gene resides on chromosome 3, and TBL1X act as a corepressor/coactivator exchanger for several nuclear receptors and transcription factors. However, the expression pattern and function of TBL1Y remain unknown. The RT-PCR analysis of the TBL1 family revealed that TBL1Y was expressed in all 13 tissues examined but not in leukocytes. Among the cell lines tested, however, it was only expressed in NT2/D1 cells and in lymphoblasts transformed with Epstein Barr (EB) virus. To compare the functions of the TBL1 family, we generated a series of expression plasmids for GAL4DBD-fused proteins of the TBL1 family. We carried out dual luciferase assays using these plasmids in combination with a plasmid having a luciferase reporter gene harboring 5xGAL4 binding sites. Unlike the other constructs, GAL4DBD-fused TBL1Y did not repress the promoter activity. Moreover, we found three novel polymorphisms in the TBL1Y gene, IVS7+9G>A, G268C, and IVS7+1G>C, which is presumed to cause splicing error. These polymorphisms are found in males within Y-haplogroup O3 (XO3e), which is defined as the Y-haplogroup O3 excluding O3e, a branch of O3. The results show that TBL1Y differs from other members of the TBL1 family in expression and function, suggesting other roles in maleness.

 

 

* Y-Chromosome Evidence for Common Ancestry of Three Chinese Populations with a High Risk of Esophageal Cancer by Huang H, et al.

Abstract: High rates of esophageal cancer (EC) are found in people of the Henan Taihang Mountain, Fujian Minnan, and Chaoshan regions of China. Historical records describe great waves of populations migrating from north-central China (the Henan and Shanxi Hans) through coastal Fujian Province to the Chaoshan plain. Although these regions are geographically distant, we hypothesized that EC high-risk populations in these three areas could share a common ancestry. Accordingly, we used 16 East Asian-specific Y-chromosome biallelic markers (single nucleotide polymorphisms; Y-SNPs) and six Y-chromosome short tandem repeat (Y-STR) loci to infer the origin of the EC high-risk Chaoshan population (CSP) and the genetic relationship between the CSP and the EC high-risk Henan Taihang Mountain population (HTMP) and Fujian population (FJP). The predominant haplogroups in these three populations are O3*, O3e*, and O3e1, with no significant difference between the populations in the frequency of these genotypes. Frequency distribution and principal component analysis revealed that the CSP is closely related to the HTMP and FJP, even though the former is geographically nearer to other populations (Guangfu and Hakka clans). The FJP is between the CSP and HTMP in the principal component plot. The CSP, FJP and HTMP are more closely related to Chinese Hans than to minorities, except Manchu Chinese, and are descendants of Sino-Tibetans, not Baiyues. Correlation analysis, hierarchical clustering analysis, and phylogenetic analysis (neighbor-joining tree) all support close genetic relatedness among the CSP, FJP and HTMP. The network for haplogroup O3 (including O3*, O3e* and O3e1) showed that the HTMP have highest STR haplotype diversity, suggesting that the HTMP may be a progenitor population for the CSP and FJP. These findings support the potentially important role of shared ancestry in understanding more about the genetic susceptibility in EC etiology in high-risk populations and have implications for determining the molecular basis of this disease.

Excerpt: Esophageal cancer (EC) is one of the most common fatal cancers worldwide and has high incidences in some geographical regions. In China, most EC patients live in the socalled ‘‘EC belt,’’, which stretches from central China westward through Central Asia to northern Iran. The best-known region for high EC risk is the north-central Henan Taihang Mountain area (the HTM population [HTMP]), situated among the Henan, Hebei, and Shanxi Provinces (Fig. 1). Less well-known regions are the southeastern littoral Chaoshan Plain in Guangdong Province (the CS population [CSP]) and the Minnan area of Fujian Province (the FJ population [FJP]). Although the 2 latter provinces are relatively geographically isolated from the interior of China, they are still considered to reside in the EC belt and evidence exists for a high EC risk in these areas.

 

Geographic Distribution of the Three Studied EC High-risk Populations

 

The Two-Dimensional Map of Y-SNP Frequencies

(2. Fujian EC high-risk population, 1. Chaoshan EC high-risk population, 3. Henan Taihang Mountain EC high-risk population, 12. Hakka Han, 5. Liaoning Han, 4. Hebei Han)

1, Chaoshan EC high-risk population; 2, Fujian EC high-risk population; 3, Henan Taihang Mountain EC high-risk population; 4, Hebei Han; 5, Liaoning Han; 6, Xinjiang Han; 7, Shangdong Han; 8, Gansu Han; 9, Shanxi Han; 10, Neimeng Han; 11, Henan Han; 12, Hakka Han; 13, Hunan Han; 14, Hubei Han; 15, Guangzhou Han; 16, Zhejiang Han; 17, Jiangxi Han; 18, Shanghai Han; 19, Anhui Han; 20, Jiangsu Han; 21, Yunnan Han; 22, Guangxi Han; 23, Sichuan Han. 4–11 refer to Northern Han and 12–23 to Southern Han.

 

The Two-dimensional Graphs of Y-STR Frequencies

(2. Fujian EC high-risk population, 3. Henan Taihan Mountain EC high-risk population, 16. Manchu)

(4. Fujian Han, 13. Tibetan, 18. Naxi, 14. Uygur, 15. Krigiz, 10. Dongbei Han)

The three EC high-risk populations and Manchu form 2 clusters; the three Northern Han (labeled 10–12) and five Southern Han populations (labeled 5–9) form another group. The remaining populations are scattered. 1, Chaoshan EC high-risk population; 2, Fujian EC high-risk population; 3, Henan Taihang Mountain EC high-risk population; 4, Fujian Han; 5, Anhui Han; 6, Yunnan Han; 7, Henan Han; 8, Zhejiang Han; 9, Guangzhou Han; 10, Dongbei Han; 11, Beijing Han; 12, Tianjing Han; 13, Tibetan; 14, Uygur; 15, Krigiz; 16, Manchu; 17, Shui; 18, Naxi; 19, Zhuang. 4–9 refer to Southern Hans, 10–12 to Northern Hans, 13–17 to Northern minority nationalities, 18–19 to Southern minority nationalities.

 

 

* Genetic Evidence Supports Demic Diffusion of Han Culture by Bo Wen, et al.

NRY Haplogroup Distribution in Han Populations

Population	n	C*	D/E	D1	F*	K*	O3*	O3d	O3e	O1*	O1b	O2a*	O2a1	Q1	P*
		M130	YAP	M15	M89	M9	M122	M7	M134	M119	M110	M95	M88	M120	M45
Northern Han
Gansu	60	7	5		6	10	11		11	5		1		3	1
Hebei	14				2	1	3		7	1
Henan	50	2			2	11	16		10	4				4	1
Liaoning	48	1	1		11	8	13		9	2		1		2
Neimeng	60	12	3		4	8	13		16	1		1		2
Shandong 1	85	14	1	2	3	12	36		12			1		4
Shandong 2	100	4			11	13	32		30	6		1		3
Shannxi 1	63	2	3		4	11	16		22	1		1		1	2
Shannxi 2	27				3	9	5		8	1				1
Xinjiang	51	2	1		3	9	15		15	2				2	2
Southern Han
Anhui	22	3				4	6		4	4				1
Fujian	148	4	1		3	21	80	6	24	3	1	4		1
Guangdong	64	3		1		8	15		19	5		7	5	1
Guangxi	26	2				4	4		5	4		2	5
Hubei	18	1				2	5	1	6	3
Hunan	15					2	5		4	2		2
Jiangsu	100	6	2		3	19	25	2	19	18		4		2
Jiangxi	21	1	1		2	4	4		5	3		1
Shanghai	55	4	2			9	14	1	9	14				2
Sichuan	63	3		1		10	16	2	18	5		6	2
Yunnan 1	27	3			1	1	5		15	1		1
Yunnan 2	66	4		2	2	15	25	4	10			2		2
Zhejiang	106	10				6	26		28	29		5		2

 

 

* Partial Duplication at AZFc on the Y Chromosome Is a Risk Factor for Impaired Spermatogenesis in Han Chinese in Taiwan by Yi-Wen Lin, et al.

The Y Chromosome Haplogroups of Han Taiwanese

(C, D, N*, N1, N3, O*, O1*, O1a, O1b, O2, O3*, O3a, O3c, O3d, O3e, Q, R)

 

 

* More Genetic Sharing among the Populations of Taiwan than Expected: A Plain tribes (Pinpu) Perspective by
Marie Lin, et al.

Results and Discussion: YSNP (paternal lineages) analysis showed 55% of Siraya and 70% of Pazeh men sharing paternal lineages O1a*, O1a1*, O1a2, O3*, O3a* and O3a3* with TwA and ISEA, and except for O1a* and O1a2, were also seen in Fujian (which we here classify as CSEA). Among other Y haplogroups, O2*, O2a*, O3a4*, O3a3c* and O3a3c1 comprised 40% of the Siraya and 28% of Pazeh gene pool and were also commonly seen all over CSEA and ISEA. Male movement between CSEA, ISEA and Taiwan will be better understood when high definition NRY-SNP determination (and associated Y-STR) of other Asian populations become available.

 

 

* 永恆的西拉雅族－遺傳基因的研究 by 林媽利

Excerpt: 分析173人男性的西拉雅族人的父系血緣，發現父系血緣約全部由O群構成，有O*，O1*，O1b，O2*，O2a*，O3a*(O3*)，O3c(O3a3)，O3a4b(O3d*)，O3a5a1(O3e1a)，O3a5a(O3e1*)，O3a5b(O3e*)及O3b血緣，除此外尚有少數C及N*的血緣。

這些血緣除了O1b血緣只出現在台灣原住民外，其他的血緣全分佈在別的亞洲族群，在我們超過1000人父系血緣的資料中，除O1b外其他的血緣也在中國、福建、越南、泰國、印尼及菲律賓找到。

西拉雅族共有14%(35/173)的父系血緣屬於原住民的O1b血緣，西拉雅族屬O1*血緣有71人，41%(71/173)，因O1*血緣可來自原住民(泰雅族有98%屬這血緣)也可來自福建移民，所以利用其中32人(SL)的16個YSTR結果與台灣原住民238人及福建人23人O1*父系血緣YSTR的資料做neighbor network分析，以探究西拉雅族人的O1*的父系血緣是來自福建移民或者是源自原來的台灣原住民。一起分析的O1* YSTR資料包括阿美族(AM)16人、泰雅族(AT)49人、排灣族(PW)15人、卑南族(PU)14人、魯凱族(RU)22人、賽夏族(SA, SB)21人、太魯閣族(TK)19人、邵族(TH)19人、鄒族(TS)38人、雅美族(YA, YB, YC, YD, YE, YF)25人、菲律賓巴丹人(BD)10人、台灣人(AD)5人及福建人(只有號碼)23人。分析的結果顯示在圖二的O1*父系血緣網狀關係圖上，中心的網狀處是顯示基因的相關性，這關係圖很明顯的把福建人與台灣原住民區分開來，灰色區為平埔族及高山原住民區，圈起來的區域(在時鐘9點的位置)為福建人區，可看到被分析的32人西拉雅族中8人落在福建人區，表示這8人或25% (8/32=25%) O1*西拉雅族父系血緣來自福建的移民(8人為SL233, SL320, SL314, SL316, SL014, SL019, SL030, SL321)，其他24人(75%)的O1*血緣落在高山原住民區(灰色區)，顯示這75%西拉雅族的O1*父系血緣來自原住民(平埔公或高山公)。在圖二西拉雅族及巴宰族屬原住民的O1*父系血緣常在同一區出現，顯示這兩族平埔族的父系血緣在遺傳上接近及相關。

 

 

* 臺灣原住民族的Y 染色體多樣性與華南史前文化的關連性 by 陳叔倬

 

Prehistoric Cultures: Taosi (陶寺), Daxi (大溪), Wucheng (吳城)

 

 

* Paternal Genetic Structure of Hainan Aborigines Isolated at the Entrance to East Asia by Li D, et al.

Abstract

Background: At the southern entrance to East Asia, early population migration has affected most of the Y-chromosome variations of East Asians.

Methodology/Principal Findings: To assess the isolated genetic structure of Hainan Island and the original genetic structure at the southern entrance, we studied the Y chromosome diversity of 405 Hainan Island aborigines from all the six populations, who have little influence of the recent mainland population relocations and admixtures. Here we report that haplogroups O1a* and O2a* are dominant among Hainan aborigines. In addition, the frequency of the mainland dominant haplogroup O3 is quite low among these aborigines, indicating that they have lived rather isolated. Clustering analyses suggests that the Hainan aborigines have been segregated since about 20 thousand years ago, after two dominant haplogroups entered East Asia (31 to 36 thousand years ago).

Conclusions/Significance: Our results suggest that Hainan aborigines have been isolated at the entrance to East Asia for about 20 thousand years, whose distinctive genetic characteristics could be used as important controls in many population genetic studies.

 

Y chromosome Haplogroup Frequencies

 

 

* Ancient DNA Evidence Supports the Contribution of Di-Qiang People to the Han Chinese Gene Pool by Zhao YB, et al.

Abstract: Han Chinese is the largest ethnic group in the world. During its development, it gradually integrated with many neighboring populations. To uncover the origin of the Han Chinese, ancient DNA analysis was performed on the remains of 46 humans (1700 to 1900 years ago) excavated from the Taojiazhai site in Qinghai province, northwest of China, where the Di-Qiang populations had previously lived. In this study, eight mtDNA haplogroups (A, B, D, F, M*, M10, N9a, and Z) and one Y-chromosome haplogroup (O3) were identified. All analyses show that the Taojiazhai population presents close genetic affinity to Tibeto-Burman populations (descendants of Di-Qiang populations) and Han Chinese, suggesting that the Di-Qiang populations may have contributed to the Han Chinese genetic pool.

 

 

* Gene Pool Differences Between Northern and Southern Altaians Inferred from the Data on Y-Chromosomal Haplogroups by Khar'kov VN, et al.

Abstract: Y-chromosomal haplogroups composition and frequencies were analyzed in Northern and Southern Altaians. In the gene pool of Altaians a total of 18 Y-chromosomal haplogroups were identified, including C3xM77, C3c, DxM15, E, F*, J2, I1a, I1b, K*, N*, N2, N3a, O3, P*, Q*, R1*, R1a1, and R1b3. The structured nature of the Altaic gene pool is determined by the presence of the Caucasoid and Mongoloid components, along with the ancient genetic substratum, marked by the corresponding Western and Eastern Eurasian haplogroups. Haplogroup R1a1 prevailed in both ethnic groups, accounting for about 53 and 38% of paternal lineages in Southern and Northern Altaians, respectively. This haplogroup is thought to be associated with the eastward expansion of early Indo-Europeans, and marks Caucasoid element in the gene pools of South Siberian populations. Similarly to haplogroup K*, the second frequent haplogroup Q* represents paleo-Asiatic marker, probably associated with the Ket and Samoyedic contributions to the Altaic gene pool. The presence of lineages N2 and N3a can be explained as the contribution of Finno--Ugric tribes, assimilated by ancient Turks. The presence of haplogroups C3xM77, C3c, N*, and 03 reflects the contribution of Central Asian Mongoloid groups. These haplogroups, probably, mark the latest movements of Mongolian migrants from the territory of contemporary Tuva and Mongolia. The data of factor analysis, variance analysis, cluster analysis, and phylogenetic analysis point to substantial genetic differentiation of Northern and Southern Altaians. The differences between Northern and Southern Altaians in the haplogroup composition, as well as in the internal haplotype structure were demonstrated.

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Roman Legion in China

Yongchang County (永昌县) is a county located in the province of Gansu in China. It belongs to the prefecture of Jinchang. The ancient North Silk Road passes through Yongchang County; numerous Han envoys were sent west along this trackway, some parties exceeding 100 members late in the first millennium BC. The Han Dynasty sent one mission to Parthia, which was reciprocated at around 100 BC: Roman emissaries were captured by the Chinese in 30 BC along the Silk Road at Yongchang.

During recent years, the county has entered the sight of media because many of the inhabitants of Liqian village (驪靬) are thought to be descendants of a Roman legion. The history records of the town indicate that it was founded by captured combatants of the Battle of Zhizhi during 36 BC. In a geography book of the eastern Han Dynasty it is recorded that "Local people call the ancestors of the Roman prisoners-of-war Lijian, the word Lijian being the Chinese name for something or someone of Greco-Roman origin. A number of the town's inhabitants still bear some features of Europeans. A DNA test is being conducted in early 2007 in the attempt to find genetic evidence supporting this claim.

The result of this specific study is negative. The study concludes: "Overall, a Roman mercenary origin could not be accepted as true according to paternal genetic variation, and the current Liqian population is more likely to be a subgroup of the Chinese majority Han".。

 

 

Villager Cai Junnian with his green eyes and ruddy complexion

* Roman Descendants Found in China? by Richard Spencer

Excerpt: Residents of a remote Chinese village are hoping that DNA tests will prove one of history's most unlikely legends — that they are descended from Roman legionaries lost in antiquity.

Scientists have taken blood samples from 93 people living in and around Liqian, a settlement in north-western China on the fringes of the Gobi desert, more than 200 miles from the nearest city.

They are seeking an explanation for the unusual number of local people with western characteristics — green eyes, big noses, and even blonde hair — mixed with traditional Chinese features.

"I really think we are descended from the Romans," said Song Guorong, 48, who with his wavy hair, six-foot frame and strikingly long, hooked nose stands out from his short, round-faced office colleagues.

 

 

* Studies on Paternal Genetics of Liqian People from Yongchang County of Gansu Province, China by 论文

Liqian people, officially recognized as Han Chinese by P. R. China, live in some small village located in Yongchang County of Gansu province, China. Many of them have light colored hair and Caucasian features, which are sharply different from Han Chinese and most ethnic minorities. Recent years, Liqian people were well known to all with controversial hypothesis of ancient Roman mercenary origin. In 1955, Homer H. Dubs proposed that some Roman soldiers captured by the Parthians after Crassus"s defeat at Carrhae in 53 B.C. were eventually hired as mercenaries by a Hun warlord in the western frontier past the boundaries of the Han Empire and were captured by the Chinese and allowed to form their own city, based on the Roman model. The hypothesis has been adopted by some scholars. It was, however, disputed by many historians. Several decades passed, the hypothesis remains hotly debated. No direct evidence, paternal genetic contribution seems particular necessary. To test this hypothesis, we surveyed more than 12 Y chromosome binary polymorphisms by use of PCR (polymerase chain reaction), PCR-RFLP (restriction fragment length polymorphism), DHPLC (Denaturing High Performance Liquid Chromatography) methods and 12 short tandem repeat (Y-STRs) loci by using Powerplex~(?) Y system for 227 male individuals representing four Chinese populations: Liqians, Yugurs, Uygur and Tibetans. In comparison with worldwide populations, the following results were obtained. 1. Eleven Y-SNP haplogroup and 75 Y-STR haplotype were observed for 87 unrelated Liqian males. At the haplogroup level, the Liqians presented low genetic diversity with a single highest frequent haplogroup O3-M122 (71.3%). When 12 fast-evolving Y-STRs were used, the genetic diversity of Liqians is high than 0.98. In present study, 77% Liqian Y chromosomes were restricted to East Asia. It is unexpected that the frequency of Haplogroup O-M175, an East Asian-specific haplogoup, is relatively higher in Liqian people than that in most populations in North China. 2. Principal Component (PC) based on Y-SNPs and multidimensional scaling (MDS) analysis on basis of Y-STRs suggests that the Liqians is closely related to Chinese populations, especially Han Chinese populations, whereas greatly deviate from Central Asian and West Eurasian populations. The positions of populations within some clusters correspond well to their predefined assignments to specific regional groups. One conclusion can also be drawn from these analyses: despite the ascertainment bias in the binary markers, PC result based on Y-SNPs is consistent with MDS result on basis of Y-STRs. In addition, further phylogenetic analysis confirmed the genetic affinity between Liqian and Han Chinese populations. 3. By PC and MDS analysis, we found two old populations: Han Chinese and Mongolians, which showed close genetic relationship to Liqians. In subsequent admixture analysis, the two populations were assumed to be parental populations of Liqians, and the Liqians is regarded as hybride population. Admixture proportional analysis suggested that the genetic contribution from Han Chinese amount to 78% in Liqians. 4. The Liqians and the Yugurs, regarded as kindred populations with common origins, present underlying genetic difference in Median-joining network and admixture proportional analysis. 5. Liqian population show close affinities to its geographic neighbors. This is confirmed in Mantel test (r=0.646, P =0.003), which show a strong and highly significant partial correlation between genetics and geography among population mentioned in our study. 6. Statistically, the Liqian showed non-significant genetic difference to Han Chinese in North China, and significant genetic difference to other Eurasian populations. 7. When we compare Liqian minimal haplotypes (9 loci "minimal haplotype") with worldwide data in YHRD, most Liqian haplotypes were found in East Asia and South Asia. Only two matches were found in Europe, but they belonged to East Asia-specific Haplogroup O-M122. The incompatible result probably originated from recurrent mutation of fast-evloving Y-STRs. Overall, Roman mercenary origin could not be accepted as a history truth according to paternal genetic variation, and the current Liqian population is more likely to be a subgroup of Chinese majority Han. Our studies provided genetic evidence for the origin of the Liqian people, and inriched to human genetic database. The 12 Y-STR polymorphism markers are highly discriminating in the Chinese Liqian population, and they may be powerful for paternity testing and personal identification.