Reconstructing the human genetic history of mainland Southeast Asia: Insights from genome-wide data from Thailand and Laos

Thailand and Laos, located in the center of Mainland Southeast Asia (MSEA), harbor diverse ethnolinguistic groups encompassing all five language families of MSEA: Tai-Kadai (TK), Austroasiatic (AA), Sino-Tibetan (ST), Hmong-Mien (HM), and Austronesian (AN). Previous genetic studies of Thai/Lao populations have focused almost exclusively on uniparental markers and there is a paucity of genome-wide studies. We therefore generated genome-wide SNP data for 33 ethnolinguistic groups, belonging to the five MSEA language families from Thailand and Laos, and analyzed these together with data from modern Asian populations and SEA ancient samples. Overall, we find genetic structure according to language family, albeit with heterogeneity in the AA-, HM-, and ST-speaking groups, and in the hill tribes, that reflects both population interactions and genetic drift. For the TK speaking groups, we find localized genetic structure that is driven by different levels of interaction with other groups in the same geographic region. Several Thai groups exhibit admixture from South Asia, which we date to ∼600–1000 years ago, corresponding to a time of intensive international trade networks that had a major cultural impact on Thailand. An AN group from Southern Thailand shows both South Asian admixture as well as overall affinities with AA-speaking groups in the region, suggesting an impact of cultural diffusion. Overall, we provide the first detailed insights into the genetic profiles of Thai/Lao ethnolinguistic groups, which should be helpful for reconstructing human genetic history in MSEA and selecting populations for participation in ongoing whole genome sequence and biomedical studies

A genetic contribution from the Far East into Ashkenazi Jews via the ancient Silk Road

Contemporary Jews retain a genetic imprint from their Near Eastern ancestry, but obtained substantial genetic components from their neighboring populations during their history. Whether they received any genetic contribution from the Far East remains unknown, but frequent communication with the Chinese has been observed since the Silk Road period. To address this issue, mitochondrial DNA (mtDNA) variation from 55,595 Eurasians are analyzed. The existence of some eastern Eurasian haplotypes in eastern Ashkenazi Jews supports an East Asian genetic contribution, likely from Chinese. Further evidence indicates that this connection can be attributed to a gene flow event that occurred less than 1.4 kilo-years ago (kya), which falls within the time frame of the Silk Road scenario and fits well with historical records and archaeological discoveries. This observed genetic contribution from Chinese to Ashkenazi Jews demonstrates that the historical exchange between Ashkenazim and the Far East was not confined to the cultural sphere but also extended to an exchange of genes

Mapping human genetic diversity in Asia

Asia harbors substantial cultural and linguistic diversity, but the geographic structure of genetic variation across the continent remains enigmatic. Here we report a large-scale survey of autosomal variation from a broad geographic sample of Asian human populations. Our results show that genetic ancestry is strongly correlated with linguistic affiliations as well as geography. Most populations show relatedness within ethnic/linguistic groups, despite prevalent gene flow among populations. More than 90% of East Asian (EA) haplotypes could be found in either Southeast Asian (SEA) or Central-South Asian (CSA) populations and show clinal structure with haplotype diversity decreasing from south to north. Furthermore, 50% of EA haplotypes were found in SEA only and 5% were found in CSA only, indicating that SEA was a major geographic source of EA populations

Mitochondrial DNA variation of Tai Speaking Peoples in Northern Thailand

The genetic structure and genetic affinity of Tai ethnic populations in northern Thailand has never been investigated, therefore their biological ancestor as well as their history is not clearly resolved. In this study, we examined the D-loop fragment of the mitochondrial DNA in 496 unrelated individuals belonging to 4 Tai ethnic groups from 10 villages: 4 Yuan, 4 Lue, 1 Yong and 1 Khuen. Based on a comparison of 522- bp sequences at the position 16048-16569, 195 distinct haplotypes defined by 130 polymorphic sites were distinguished. Of these, 154 types were unique to their respective populations, whereas 41 were shared by two or more populations. The studied Tai populations showed evidence of demographic expansion with corresponding estimated expansion times of more than 66,000 years before the present. During historical migration and settlement, intensive genetic drift and founder effects left their imprint as population differentiation. Genetic affinity among the populations was not consistent with their linguistic classification. The Yuan or Khon Muang in northern Thailand exhibited a close relationship to the Tai groups in South and Southeast China, which supported the immigrant hypothesis and their ancestor’s origin. However, an admixture between the Khon Muang and the Lawa and Mon, the long existing populations of northern Thailand, needs to be investigated

Genetic structure of Khon Mueang populations along a historical Yuan migration route in Northern Thailand

The genetic structure and diversity of the Khon Mueang, who constitute the majority of the current northern Thai populations, is poorly understood. In present study, 433 unrelated individuals from 10 Khon Mueang villages, located in different geographic areas along historical Yuan migration route, were analyzed using the mtDNA hypervariable region (HVR) 1 and 17 Y chromosome short tandem repeats (Y-STRs) as markers. The studied populations from the Chiang Mai-Lamphun basin showed the evidence of demographic expansion and gene flow process in this area. Genetic structure of the geographically diverse Khon Mueang was driven by geography, while genetic differentiation of Chiang Mai-Lamphun populations was shaped by genetic exchange with the neighbouring populations in the area. Contrasting patterns of mtDNA and Y chromosome variations, influenced by sex-bias rates of migration and admixture, suggests that male and female Khon Mueang do not have identical demographic histories

Complete mitochondrial genomes of Thai and Lao populations indicate an ancient origin of Austroasiatic groups and demic diffusion in the spread of Tai–Kadai languages

The Tai–Kadai (TK) language family is thought to have originated in southern China and spread to Thailand and Laos, but it is not clear if TK languages spread by demic diffusion (i.e., a migration of people from southern China) or by cultural diffusion, with native Austroasiatic (AA) speakers switching to TK languages. To address this and other questions, we obtained 1234 complete mtDNA genome sequences from 51 TK and AA groups from Thailand and Laos. We find high genetic heterogeneity across the region, with 212 different haplogroups, and significant genetic differentiation among different samples from the same ethnolinguistic group. TK groups are more genetically homogeneous than AA groups, with the latter exhibiting more ancient/basal mtDNA lineages, and showing more drift effects. Modeling of demic diffusion, cultural diffusion, and admixture scenarios consistently supports the spread of TK languages by demic diffusion

Cultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand

The Hmong-Mien (HM) and Sino-Tibetan (ST) speaking groups are known as hill tribes in Thailand; they were the subject of the first studies to show an impact of patrilocality vs. matrilocality on patterns of mitochondrial (mt) DNA vs. male-specific portion of the Y chromosome (MSY) variation. However, HM and ST groups have not been studied in as much detail as other Thai groups; here we report and analyze 234 partial MSY sequences (∼2.3 mB) and 416 complete mtDNA sequences from 14 populations that, when combined with our previous published data, provides the largest dataset yet for the hill tribes. We find a striking difference between Hmong and IuMien (Mien-speaking) groups: the Hmong are genetically different from both the IuMien and all other Thai groups, whereas the IuMien are genetically more similar to other linguistic groups than to the Hmong. In general, we find less of an impact of patrilocality vs. matrilocality on patterns of mtDNA vs. MSY variation than previous studies. However, there is a dramatic difference in the frequency of MSY and mtDNA lineages of Northeast Asian (NEA) origin vs. Southeast Asian (SEA) origin in HM vs. ST groups: HM groups have high frequencies of NEA MSY lineages but lower frequencies of NEA mtDNA lineages, while ST groups show the opposite. A potential explanation is that the ancestors of Thai HM groups were patrilocal, while the ancestors of Thai ST groups were matrilocal. Overall, these results attest to the impact of cultural practices on patterns of mtDNA vs. MSY variation

Close genetic relationship between central Thai and Mon people in Thailand revealed by autosomal microsatellites

Central Thailand is home to diverse populations with the central Thai constituting the major group, while the Mon, who migrated from southern Myanmar, are sparsely distributed within the region. A total of 338 individuals of eight central Thai (246 samples) and three Mon populations (92 samples) were newly genotyped. When combined with our previously published Mon data, this provides a total of 139 Mon samples. We found genetic similarity between the central Thai and Mon and weak sub-structuring among Thais from central, northern, and northeastern Thailand. The forensic parameter results show high discrimination values which are appropriate for forensic personal identification and paternity testing in both the central Thai and Mon; the probabilities of excluding paternity are 0.999999112 and 0.999999031, respectively, and the combined discrimination power is 0.9999999999999999999999 in both groups. This regional allelic frequency on forensic microsatellites may serve as a useful reference for further forensic investigations in both Thailand and Myanmar

Genetic affinity and admixture of northern Thai people along their migration route in northern Thailand: evidence from autosomal STR loci

The Khon Mueang (KM) are the largest group of northern Thai people. Our previous mtDNA studies have suggested an admixture process among the KM with the earlier Mon-Khmer-speaking inhabitants of this region. In this study, we evaluate genetic affinities and admixture among 10 KM populations in northern Thailand lying along the historical Yuan migration route, and 10 neighboring populations belonging to 7 additional ethnic groups: Lawa, Mon (Mon-Khmer-speaking groups), Shan, Yuan, Lue, Khuen and Yong (Tai-speaking groups) by analyzing 15 hypervariable autosomal short tandem repeat loci. The KM exhibited close relationships with neighboring populations, especially the Tai-speaking groups, reflecting an admixed origin of the KM. Admixture proportions were observed in all KM populations, which had a higher contribution from the parental Tai than the Mon-Khmer groups. Different admixture patterns of the KM along the migration route might indicate high heterogeneity among the KM. These patterns were not directly associated with geographical proximity, suggesting other factors, like variation in the timing of admixture with the existing populations may have had an important role. More genetic data from different marker systems solely transmitted through the male or female lineages are needed to complete the description of genetic admixture and population history of the K

Contrasting maternal and paternal genetic variation of hunter-gatherer groups in Thailand

The Maniq and Mlabri are the only recorded nomadic hunter-gatherer groups in Thailand. Here, we sequenced complete mitochondrial (mt) DNA genomes and ~2.364 Mbp of non-recombining Y chromosome (NRY) to learn more about the origins of these two enigmatic populations. Both groups exhibited low genetic diversity compared to other Thai populations, and contrasting patterns of mtDNA and NRY diversity: there was greater mtDNA diversity in the Maniq than in the Mlabri, while the converse was true for the NRY. We found basal uniparental lineages in the Maniq, namely mtDNA haplogroups M21a, R21 and M17a, and NRY haplogroup K. Overall, the Maniq are genetically similar to other negrito groups in Southeast Asia. By contrast, the Mlabri haplogroups (B5a1b1 for mtDNA and O1b1a1a1b and O1b1a1a1b1a1 for the NRY) are common lineages in Southeast Asian non-negrito groups, and overall the Mlabri are genetically similar to their linguistic relatives (Htin and Khmu) and other groups from northeastern Thailand. In agreement with previous studies of the Mlabri, our results indicate that the Malbri do not directly descend from the indigenous negritos. Instead, they likely have a recent origin (within the past 1,000 years) by an extreme founder event (involving just one maternal and two paternal lineages) from an agricultural group, most likely the Htin or a closely-related group