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East Asia harbors substantial genetic, physical, cultural and linguistic diversity, but the detailed structures and interrelationships of those aspects remain enigmatic. This question has begun to be addressed by a rapid accumulation of molecular anthropological studies of the populations in and around East Asia, especially by Y chromosome studies. The current Y chromosome evidence suggests multiple early migrations of modern humans from Africa via Southeast Asia to East Asia. After the initial settlements, the northward migrations during the Paleolithic Age shaped the genetic structure in East Asia. Subsequently, recent admixtures between Central Asian immigrants and northern East Asians enlarged the genetic divergence between southern and northern East Asia populations. Cultural practices, such as languages, agriculture, military affairs and social prestige, also have impacts on the genetic patterns in East Asia. Furthermore, application of Y chromosome analyses in the family genealogy studies offers successful showcases of the utility of genetics in studying the ancient history.
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... This coincided with the retreat of the glaciers and the subsequent reoccupation of the region. The migration routes and patterns of this expansion are still being studied, but it is believed that Haplogroup O mainly spread across East Asia by (1) traversing eastward to southeast Asia and then into southern China, where O-M95, O-M119 and O-M7 groups were developed, and (2) northward route into modern Sichuan and Yunnan, before it finally reached upper and middle Yellow River and evolved into one major ancestral lineage of modern Han Chinese-O-M134*117 as well as other Sino-Tibetan groups (Ning et al. 2016;Wang and Li 2013). Another study (Shi et al. 2005) showed that most of the major STR haplotypes occurred in southern populations living in modern-day Burma, Yunnan, Thailand, and northeastern India, which is likely the origin place of haplogroup-O. ...
... Migration of the Y chromosome haplogroup O in East Asia, fromWang and Li (2013) ...
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This chapter explores the significance of the Southwest Silk Road in shaping Chinese civilization by examining paleo-archaeological, genetic, historical, and linguistic evidence. The Southwest Silk Road, connecting East Asia and Western Eurasia through Bangladesh and northeastern India, played a crucial role in the formation of Chinese civilization. Genetic analysis reveals migration routes of dominant Y-chromosome haplogroups (O, N, C, D) overlapping the Silk Road, with O-M134 becoming ancestors of proto-Sino-Tibetan speakers. Bangladesh likely served as a significant station for undifferentiated NO haplogroup members. With linguistic evidence, I also challenge the northern origin hypothesis, which placed the homeland of the Sino-Tibetan family in the middle Yellow River or Central Plain. Instead, I argue that early Sinitic speakers were highland pastoralists inhabiting the northern range of the Southwest Silk Road, specifically western Sichuan/eastern Tibetan Plateau. Ancient Bangladesh region, situated on the Silk Road's western range, significantly contributed to proto-Sino-Tibetan populations and the emergence of Chinese civilization.
... Previous studies have established a correlation between language dialects and the autosomal DNA-inferred genetic landscape [17,33], although such correlations are less common for mtDNA [38]. In our study, genetic differences were observed between Han Chinese individuals who speak Mandarin and those who speak other dialects ( Figure 2D), a pattern that may be attributed to patrilocal residence customs in East Asia [52]. Notably, genetic divergence was detected only between Mandarin speakers and other dialect groups. ...
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The revolution in large-scale human genomics and advancements in statistical methods have profoundly refined our understanding of genetic diversity and structure within human populations. Y-chromosome variations, with their distinct evolutionary characteristics, play crucial roles in reconstructing the origins and interactions of ancient East Asian paternal lineages. We launched the YanHuang cohort, employing a high-resolution capture sequencing panel to explore the evolutionary trajectory of Han Chinese, one of the world's largest ethnic groups. We generated paternal genomic data for 5020 Han Chinese individuals across 29 Chinese administrative regions. We observed that multiple founding paternal lineages originating from ancient western Eurasia, Siberia, and East Asia contributed significantly to the Han Chinese gene pool. We identified fine-scale paternal genetic structures shaped by interactions among ancient populations and geographic barriers like the Qinling-Huaihe line and the Nanling Mountains. This structure reflects both isolation-enhanced and admixture-driven genetic differentiation, underscoring the complexity of Han Chinese genomic diversity. We observed a strong correlation between the frequency of multiple founding lineages and subsistence-related ancestral sources, including western pastoralists, Holocene Mongolian Plateau populations, and ancient East Asians. This relationship highlights the impact of ancient migrations and admixture on Chinese paternal genomic diversity. We introduce the Weakly-Differentiated Multi-Source Admixture model to clarify the intricate interactions among multiple ancestral sources influencing the Han Chinese paternal landscape. This study provides a comprehensive uniparental genomic resource from the YanHuang cohort, proposes a novel admixture model, and delineates the complex genomic landscape shaped by ancient herders, hunter-gatherers, and farmers integral to Han Chinese ancestry.
... Otherwise, the correlation between language dialects and autosomal DNA had been presented in previous studies(Qiu et al. 2022) but rare for 380 the mtDNA(Li et al. 2019b). In our study, we noticed that the Han Chinese speaking Mandarin presented genetic differences with other dialect groups 381(Figure 2c), possibly due to the patrilocality residence customs in East Asia(Wang and Li 2013). Importantly, we only observed the genetic 382 divergence between Mandarin speakers and other dialect speakers. ...
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The large-scale human genome revolution and rapidly advanced statistical innovation have updated our understanding of the fine-scale and complex genetic structure, the entire landscape of genetic diversity and the evolutionary trajectories of spatiotemporally different ancients and ethnolinguistically diverse modern populations. Recent ancient DNA research provided a detailed and complex admixture picture of ancient Europeans but limited insights into East Asians as the few available genomes. Y-chromosome variations in the male-specific regions have unique evolutionary features that can be utilized to reconstruct the origin and subsequent interaction of ancient East Asian paternal lineages. We launched the YanHuang cohort using our designed highest-resolution capture sequencing panel to explore the detailed evolutionary trajectory of the Han Chinese, one of the largest ethnic groups in the world. We reported one of the largest uniparental genomic resources and observed multiple founding paternal lineages dominant in ancient western Eurasian, Siberian and East Asian participating in the formation of the gene pool of the Han Chinese. We identified fine-scale paternal genetic structure correlated with different patterns of ancient population interaction and geographical mountain barriers (Qinling-Huaihe line and Nanling Mountains), suggesting isolation-enhanced and admixture-introduced genetic differentiation enhanced the complexity of the Han Chinese genomic diversity. We observed a strong direct correlation between the frequency of multiple founding lineages of Han Chinese and the proportion of subsistence-related ancestry sources related to western pastoralists, Holocene Mongolian Plateau people and ancient East Asians, reflecting the ancient migration events contributed to our identified patterns of Chinese paternal genomic diversity. We finally provided one novel and the most plausible admixture-by-admixture model, the Weakly-Differentiated-Multi-Source Admixture model, as the major genetic mechanism to illuminate our observed pattern of complex interactions of multiple ancestral sources and landscape of the Han Chinese paternal genetic diversity. Generally, we presented one large-scale uniparental genomic resource from the YanHuang cohort, portrayed one novel admixture formation model and presented the entire genomic landscape with multiple ancestral sources related to ancient herders, hunter-gatherers and farmers who participated in the ancestral formation of the Han Chinese.
... Y-Chromosome data, while having played a seminal role in illuminating our African origins 25,26 , and describing male mediated demographic processes 27,28 , has not been robustly reconciled with the Two Layer model. Current models of East Asian Y-chromosome variation generally argue a single southern route origin of the four haplogroups which make up 90-95% of male lineages [C, D, and the NO clade (comprising haplogroups N and O) [29][30][31][32] ], followed by subsequent northwards expansion 30,31,33 . These theories therefore don't account for the proposed northern dispersal route associated with the second layer of peopling, or the implied genetic affinities shared by the present-day representatives of the first layer. ...
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The Two Layer hypothesis is fast becoming the favoured narrative describing East Asian population history. Under this model, hunter-gatherer groups who initially peopled East Asia via a route south of the Himalayas were assimilated by agriculturalist migrants who arrived via a northern route across Eurasia. A lack of ancient samples from tropical East Asia limits the resolution of this model. We consider insight afforded by patterns of variation within the human pathogen Mycobacterium tuberculosis (Mtb) by analysing its phylogeographic signatures jointly with the human Y-chromosome. We demonstrate the Y-chromosome lineages enriched in the traditionally hunter-gatherer groups associated with East Asia’s first layer of peopling to display deep roots, low long-term effective population size, and diversity patterns consistent with a southern entry route. These characteristics mirror those of the evolutionarily ancient Mtb lineage 1. The remaining East Asian Y-chromosome lineage is almost entirely absent from traditionally hunter-gatherer groups and displays spatial and temporal characteristics which are incompatible with a southern entry route, and which link it to the development of agriculture in modern-day China. These characteristics mirror those of the evolutionarily modern Mtb lineage 2. This model paves the way for novel host-pathogen coevolutionary research hypotheses in East Asia.
... Dennoch basierend auf den verfügbaren Daten, ist die D1a-F6251-Mutation eine paläolithische Komponente ostasiatischer Populationen, die das Neolithikum und damit eine massive Ausbreitung der O-M175-Mutationen überleben konnten. Forschern zufolge(Qi et al. 2013;Wang et al. 2013b) hatten die neolithischen Bauern in Ostasien vor etwa 8.000 Jahren überwiegend die Haplogruppe O-M175, während die Jäger und Sammler überwiegend der Haplogruppe D-M174 angehörten. Eine massive Ausbreitung der Bauern während des Neolithikums hat dann die Haplogruppe D-M174 an die Peripherie Ostasiens geschoben (siehe Kapitel 16 für weitere Details).Abschnitt 3. Angebliche afrikanische Ursprünge von D-M174.Shang et al.(2007) berichten über die Entdeckung des so genannten Tianyuan-Menschen, dessen Überreste in einer Höhle bei Peking gefunden wurden. ...
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Die englische Originalausgabe dieser Monografie erschien 2021 unter den Titel The Prehistory of Language: A Triangulated Y-Chromosome-Based Perspective. Ich bin Linguist und habe diese Übersetzung für meine Kollegen aus dem Sprachbereich angefertigt. Dennoch hoffe ich, dass andere akademische Forscher sich für diese Arbeit interessieren werden, insbesondere Genetiker, Archäologen, Anthropologen und Geowissenschaftler. Diejenigen, die ein allgemeines Interesse an Sprache und Genetik haben, sind ebenfalls herzlich eingeladen, meine Monografie zu lesen. In den letzten vierzig Jahren haben Forscher dank der Sequenzierungstechnologie die molekulargenetische Variation genutzt, um die menschliche Evolutionsgeschichte zu erforschen. Einige haben versucht, diese neue Forschungsrichtung noch weiter auszudehnen mit der Idee, dass genetische Werkzeuge die Vorgeschichte der Sprache erklären können. Da wir unsere Gene und unsere Muttersprache von unseren Eltern geerbt haben, sollten genetische und sprachliche Variationen gut miteinander korrelieren. Die Entschlüsselung der sprachlichen Vorgeschichte anhand genetischer Daten erfordert jedoch die Klärung mehrerer Fragen. Sollen wir die heutige DNA oder die alte DNA oder beides verwenden? Sollen wir mitochondriale, Y-Chromosomen- oder autosomale Marker verwenden? Sollten wir Modelle der Sprachvorgeschichte mit statistischen Methoden erstellen? Oder sollten wir Modelle mit einer Synthese aus archäologischen und paläoklimatologischen Daten erstellen? Ich schlage vor, dass wir eine triangulierte Y-Chromosom-basierte Modellierung als methodische Lösung für die Entschlüsselung der Vorgeschichte der Sprache mit genetischen Werkzeugen verwenden. In meiner Forschung wurden mindestens 110 sprachlich informative Y-Chromosom-Mutationen identifiziert. Die Evolutionsgeschichte dieser Mutationen deutet darauf hin, dass die Geschichte der Sprache vor etwa 100 000 Jahren begann, als der Homo sapiens aus Afrika auswanderte. Nachfolgende Migrationen sowie kulturelle und evolutionäre Anpassungen erklären dann die Ausbreitung der Sprache in alle Teile der Welt. Zu dieser Ausbreitung gehören der Mungo-See-Mensch in Australien, die Mammutsteppen Eurasiens, die feuchte Phase der Sahara-Wüste, die bidirektionale Migration von Rentierzüchtern entlang des Polarkreises, der Ackerbau entlang der Flüsse des Amazonas-Regenwaldes, die Einführung des Reisanbaus in Südasien, Malaria in den Tropen und Hypoxie auf dem tibetischen Plateau.
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Large-scale Y-chromosome genetic resources provide critical insights into human evolutionary history. However, the limited high-density Y-chromosomal data from ethnolinguistically diverse Chinese populations hinder the reconstruction of fine-scale population stratification and the exploration of its complex influencing factors. We report large-scale Y-chromosome variation data from 5,311 unrelated males in the pilot phase of the 10K Chinese People Genomic Diversity Project. We identified clear north-south and west-east genetic substructures among Chinese populations, reflecting distinct regional genetic origins and migration patterns. We illuminate how multiple cultural and demographic factors, including subsistence strategy shifts, language barriers, and geographic isolation, have shaped Chinese paternal population dynamics via admixture modeling coupled with phylogenetic and phylogeographic analyses. Paternal genetic diversity follows complex patterns, with a haplogroup frequency spectrum and a variation-based phylogenetic tree indicating that more than 95% of paternal lineages belong to haplogroups O, C, N, D, and Q. The phylogeographical analysis revealed distinct regional haplogroup distribution patterns linked to subsistence strategy shifts and ancestral population dispersal. The predominance of Neolithic farmer-related lineages suggests that agriculture-related lineages promote population differentiation between ancient northern and southern East Asians. We observed significant lineage sharing between Han Chinese and minority ethnic groups, with the northwestern paternal gene pool contributing by farming and herding-related lineages. Spatial autocorrelation and principal component analyses emphasized genetic connections between Han Chinese and ethnic minorities, highlighting complex admixture and migration aligned with geographical and linguistic divisions. These findings support the influence of the farming-language dispersal hypothesis on Chinese paternal lineage formation and underscore the role of geographic and linguistic isolation in shaping the genetic landscape. This study demonstrates the unique value of large-scale Y-chromosome data in uncovering human evolutionary complexity.
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As an alternative to a recent coastal southern route followed by modern humans to colonize Eurasia after an Out of Africa around 60 Kya, and under the premise that the evolutionary rate based coalescent ages slowdown going backwards in time, I propose a new model based on phylogenetic and phylogeographic analyses of uniparental markers in present and past modern human populations across Eurasia and Australasia. The archaeological record favors a northern route that reached China around 120 kya and then descended latitudinally reaching Southeast Asia and islands around 70-60 kya. These ages coincide with the basal split of the mtDNA macrohaplogroup L3’4* and the origin of the Y- chromosome macrohaplogroup CT* and the subsequent splits in Eurasia of mtDNA haplogroups M and N and Y-chromosome C, D and F clades respectively. Roughly at the same time modern humans arrived in Australasia other groups retreated southwest returning to Africa carrying with them mtDNA L3 and Y-Chromosome E lineages. Southeast Asia and Southwest-Central Asia were the subsequent demographic centers for the respective colonization of East and northern Asia and Europe. Across the Ganges-Brahmaputra and the Indus valleys, South Asia was colonized from both migratory centers.
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