Genetic History Of East Asians

This article summarizes the genetic makeup and population history of East Asian peoples and their connection to genetically related populations such as Southeast Asians and North Asians, as well as Oceanians, and partly, Central Asians, South Asians, and Native Americans. They are collectively referred to as " East Eurasians" in population genomics.

Overview

Origins

File:Phylogenetic structure of Eastern Eurasians.png, Phylogenetic position of East Asian lineages among other Eastern Eurasians.
File:Schematic of Populations in Eurasia from 45 to 10 kaBP.png, Schematic of Populations in Eurasia from 45 to 10 kaBP.
File:Schematic depicting major ancestries in Asia.png, Highlighted regions show where ancient individuals associated with the labeled ancestry have been sampled.

Population genomic research has studied the origin and formation of modern East Asians. The ancestors of East Asians ( Ancient East Eurasians) split from other human populations (Ancient West Eurasians) possibly as early as 80,000 to 50,000 years ago. Possible routes into East Asia include a northern route from Central Asia, beginning north of the Himalayas, and a southern route, beginning south of the Himalayas and moving through South and Southeast Asia. Vallini et al. 2024 noted that the divergence between Ancient East Eurasians and West Eurasians most likely occurred on the Persian Plateau between 57–46kya years ago.

Phylogenetic data suggests that an early Initial Upper Paleolithic wave (earlier than 45kya) "ascribed to a population movement with uniform genetic features and material culture" ( Ancient East Eurasians) dispersed throughout Eurasia, with one of its main branches (dubbed as East Eurasian Core; EEC) using a Southern dispersal route through Southern Asia, where they subsequently diverged rapidly into the ancestors of Australasians (Oceanians), the Ancient Ancestral South Indians (AASI), as well as Andamanese and East/Southeast Asians (ESEA), although Papuans may have also received some geneflow from an earlier group (xOoA), around 2%, next to additional archaic admixture in the Sahul region.
Deeply diverged Ancient East Eurasian lineages associated with the spread of IUP-affilated material culture along an early 'northern route' into eastern Europe ( Bacho Kiro Cave and Peștera cu Oase), Central Asia ( Ust'-Ishim man), and Siberia ( Kara-Bom etc.), as well as Northwest China, did contribute only little or no ancestry to modern East Asians, which instead were found to descend primarily from the southern route wave.

The single southern route dispersal into the South-Southeast Asia region gave rise to the AASI, Andamanese, Eastern Asian and Australasian populations. The southern route origin is strongly supported by archaeogenetic data and genetic affinities between these " East Eurasian Core" (EEC) populations. Although the morphological more distinct traits of modern Northeast Asian and Siberian populations raised the question of a possible distinct northern origin, those traits have subsequently been associated with adaptions to the extremely cold climate during the Last Glacial Maximum (LGM) of 24– 16 kya by an ancient people with initially southern affinities, which moved into Northeast Asia and Siberia from Southeast Asia. This is further supported by higher morphological affinities of ancient East Asian specimens, such as the Tianyuan man, the Zhoukoudian Upper Cave remains, the Liujiang man, the Red Deer Cave people, the Jōmon people as well as the Liangdao and Qihe Cave remains to "southern" populations and ancient remains, such as the Niah cave and Wajak remains or Hoabinhians, as well as modern Andamanese, Vedda, and Aboriginal Australians, but being genetically closer or basal to the derived Northeast Asian and Siberian groups.

Additionally, genetic diversity within present-day Asian populations, follows a strong correlation with latitude: genetic diversity is decreasing from south to north. The correlation continues to hold true when only mainland Southeast Asian and East Asian populations are considered. This may be attributable to a serial founder effect, and is consistent with a single eastward migration of modern humans along a southern route into South and Southeast Asia. Subsequently, ancestral East Asians diversified in southern East Asia and subsequently dispersed northward across the continent. The dominant paternal haplogroups of East Asians associated with the "southern route" belong to subclades of C-M217, D-M174, O-M175, and N-M231, among some others.

The exact patterns of the northwards dispersal of ancestral East Asians from Southeast Asia remains unclear. There may have been both an "interior route" and a "coastal route", correlating in part with the distribution and frequency of paternal haplogroup subclades. Accordingly, ancient and modern East Asians can be modeled as admixture between both a deeply branching interior lineage (represented by the Tianyuan specimen) and an equally deep branching coastal lineage (represented by present-day Önge peoples). The amounts of interior and coastal contributions vary depending on each model; while one study estimated 90% interior + 10% coastal contributions, others estimated between 21–26% interior + 74–79% coastal contributions, or nearly equal amounts of interior and coastal contributions (51–56% and 44–49% respectively). There are also alternative scenarios for the divergence patterns of ancient East Asians without a distinct interior/coastal dispersal. Wang et al. 2025 found further evidence for that ancient and present-day East Asians formed as admixture between two basal Asian sources, specifically between a lineage represented by the Xingyi_EN specimen, and a lineage represented by the Tianyuan specimen.

There is also genetic evidence for migrations to Northern Asia and Siberia from both a deeply diverged East Eurasian Initial Upper Paleolithic group (related to the Ust'-Ishim man and or the Bacho Kiro cave remains) via Central Asia, which may have contributed ancestry (up to 39%) to the Tianyuan lineage (with the remainder 61% being from an Onge-like source), and from a later Upper Paleolithic West Eurasian-affilated source, which contributed to the formation of Ancient North Eurasians (ANE/ANS). While the southern migration wave likely diversified after settling within East Asia, the wave associated with Upper Paleolithic Europeans mixed with the southern wave somewhere in Siberia. The ANE derive around 2/3 (50–71%) of their ancestry from a West Eurasian-like source best represented by Upper Paleolithic Europeans, and around 1/3 (29–50%) from an East Eurasian source best represented by the Tianyuan man or Upper Paleolithic East/Southeast Asians. The legacy of this Paleolithic admixture event is also evident by the later dispersal of haplogroups Q and R, as well as ANE-like ancestry throughout Northern Eurasia, but which had only limited influence on modern East Asian groups. "In the study of Zhong et al. haplogroups O-M175, C-M130, D-M174 and N-M231 still suggests the substantial contribution of the southern route. However, the Central Asia and West Eurasia related haplogroups, such as haplogroups R-M207 and Q-M242, occur primarily in northwestern East Asia and their frequencies gradually decrease from west to east. In addition, the Y-STR diversities of haplogroups R-M207 and Q-M242 also indicate the existence of northern route migration about 18,000 years ago from Central Asia to North Asia, and recent population admixture along the Silk Road since about 3000 years ago (Piazza 1998)."

Although Huang et al. (2021) found evidence for light skin being selected among the ancestral populations of West Eurasians and East Eurasians, prior to their divergence, the main period for the selection of light skin alleles (such as rs1800414-G) started around 25,000 to 30,000 years ago in East Asia, after the northwards expansion from South Asia. The affiliated alleles are distinct from those observed among European/Middle Eastern populations.

Diversification and substructure

After the peopling of the South and Southeast Asia region by the East Eurasian Core (EEC), this ancestral population diverged rapidly into at least three "deeply branching East Asian lineages, namely the "Ancient Ancestral South Indians" (AASI) staying in Southern Asia, Australasians (AA) heading into Oceania, and the East- and Southeast Asian (ESEA) branch in Southeast Asia and subsequently expanding northwards. The ESEA branch would become broadly ancestral to modern East Asians, but also Southeast Asians, Polynesians, and Siberians, as well as Native Americans. The ESEA source population is estimated to have expanded outgoing from Mainland Southeast Asia at c. 40,000 BCE. The deepest split among the ESEA lineage gave rise to the "Basal Asian" Hoabinhian hunter-gatherers of Southeast Asia, the Xingyi lineage in Southern China, and the c. 39,000-year-old Tianyuan lineage in Northern China and the Amur Region. This was followed by the divergence of the Jōmon lineage on the Japanese archipelago some 22,000 to 25,000 years ago. Then, finally the splitting of the Central Yunnan, Ancient Southern East Asians (ASEA), and Ancient Northern East Asians (ANEA) ancestries somewhere in East Asia over 19,000 years ago. ANEA ancestry replaced the earlier Tianyuan-like ancestry in Northern China, the Amur region, and parts of Siberia by at least 19,000 years ago. ASEA ancestry admixed with Xingyi ancestry to form the Longlin lineage at least 11,000 years ago, before ASEA ancestry replaced Longlin ancestry around 6,000 years ago in Southern China.

There are currently seven identified closely related sub-ancestries on the ESEA branch:

* Hoabinhian ancestry – Ancestry on the ESEA lineage associated with 8,000–4,000-year-old hunter-gatherers in Laos and Malaysia.
* Tianyuan ancestry – Ancestry on the ESEA lineage associated with an Upper Paleolithic individual dating to c. 39,000 years ago in Northern China.
* Xingyi ancestry – Ancestry associated with a 7,100-year-old Xingyi_EN individual from the Xingyi site in Yunnan. This lineage was a previously unidentified "ghost" population that contributed to the Early Ancient Tibetan (EAT) ancestry associated with a c. 6,000-year-old Zongri5.1K individual from the Tibetan Plateau.
* Jōmon ancestry – Ancestry associated with 8,000–3,000-year-old individuals in the Japanese archipelago.
* Ancient Northern East Asian (ANEA) – Associated with populations in the Amur River region, Mongolia, Siberia, as well as in the Yellow River region to central China. ANEA ancestry can be broadly divided into three subgroups: the “Ancient Northeast Asians“ (ANA), “Neo-Siberians", and "Yellow River farmers". Sister lineage to ASEA.
* Ancient Southern East Asian (ASEA) – Associated with ancient samples in the Fujian and Guangxi region of Southern China. Sister lineage to ANEA.
* Central Yunnan ancestry – Ancestry found in 5,500–1,400-year-old central Yunnan populations. It is closer related to the ANEA and ASEA lineages than the Basal Asian lineages, but also distinct from them.
The genetic makeup of contemporary East Asians, such as the Han Chinese, is primarily characterized by the presence of "Yellow River" ancestry, a subgroup of the Ancient Northern East Asians. Yellow River ancestry is associated with a sample of a 9,500-year-old individual from the lower reaches of the Yellow River in Shandong, i.e. Bianbian. It formed either as admixture between a major Ancient Northern East Asian (ANEA) component and a minor Ancient Southern East Asian (ASEA) one, or as earlier admixture between a deep interior group (90%) and a deep coastal group (10%). It is distinct from the Ancient Northeast Asians (ANA), but branches deeply within ANEA.

Northeast Asians such as Tungusic, Mongolic, and Turkic peoples derive most of their ancestry from the "Amur" (Ancient Northeast Asian) subgroup of the Ancient Northern East Asians, which expanded massively with millet cultivation and pastoralism. Tungusic peoples display the highest genetic affinity to Ancient Northeast Asians, represented by c. 7,000 and 13,000 year old specimens, whereas Turkic-speaking peoples have variable but significant amounts of West Eurasian admixture.

An early branch of Ancient Northern East Asians absorbed an Ancient North Eurasian population to their north, giving rise to the Ancient Paleo-Siberians, who in turn became ancestral to both "modern Paleo-Siberians" (such as Chukotko-Kamchatkan, Yeniseian, and Nivkh speakers) and contemporary Native Americans. Paleo-Siberian (APS) ancestry was once widespread across North Asia, but largely replaced by later waves of Neo-Siberian ancestry due to a major population turnover from the south, possibly involving Uralic and Yukaghir speakers. This was later followed by another expansion from the south in relatively recent times, associated with Ancient Northeast Asian ancestry involving Tungusic, Mongolic, and Turkic speakers.

Austronesians and Kra-Dai speakers in Southeast Asia mainly carry "Fujian Neolithic" ancestry, a subgroup of Ancient Southern East Asians (ASEA), which is associated with the spread of rice cultivation. In contrast to Austronesians, most Austroasiatic ethnic groups demonstrate greater genetic affinity with the Central Yunnan lineage than they do with Ancient Southern East Asians (ASEA). Central Yunnan ancestry is common across Austroasiatic speakers in Southeast Asia and Yunnan province. It peaks in the Mlabri people of Laos and Thailand, but is low to non-existent in the Austroasiatic speakers of South Asia. Isolated hunter-gatherers in Southeast Asia, such as the Semang, derive most of their ancestry from the Hoabinhian and Central Yunnan lineages. A mixture of Xingyi ancestry (48.8 to 71.5%) and ASEA ancestry likely gave rise to the "Longlin" ancestry associated with an 11,000-year-old individual from Longlin, Guangxi.

Studies on ancient and historical populations

Xiongnu

The Xiongnu, possibly a Turkic, Mongolic, Yeniseian or multi-ethnic group, was a confederation of nomadic peoples who, according to ancient Chinese sources, inhabited the eastern Eurasian Steppe from the 3rd century BC to the late 1st century AD. Chinese sources report that Modu Chanyu, the supreme leader after 209 BC, founded the Xiongnu Empire.

Autosomal DNA

It was found that the "predominant part of the Xiongnu population is likely to have spoken Turkic". However, important cultural, technological and political elements may have been transmitted by Eastern Iranian-speaking Steppe nomads: "Arguably, these Iranian-speaking groups were assimilated over time by the predominant Turkic-speaking part of the Xiongnu population". This is reflected by the average genetic makeup of Xiongnu samples, having approximately 58% East Eurasian ancestry, represented by a Bronze Age population from Khövsgöl, Mongolia, which may be associated with the Turkic linguistic heritage. The rest of the Xiongnu's ancestry (~40%) was related to West Eurasians, represented by the Gonur Depe BMAC population of Central Asia, and the Sintashta culture of the Western steppe. The Xiongnu displayed striking heterogeneity and could be differentiated into two subgroups, "Western Xiongnu" and "Eastern Xiongnu", with the former being of "hybrid" origins displaying affinity to previous Saka tribes, such as represented by the Chandman culture, while the later was of primarily Ancient Northeast Asian ( Ulaanzuukh- Slab Grave) origin. High status Xiongnu individuals tended to have less genetic diversity, and their ancestry was essentially derived from the Eastern Eurasian Ulaanzuukh/ Slab Grave culture.

Paternal lineages

A review of the available research has shown that, as a whole, 53% of Xiongnu paternal haplogroups were East Eurasian, while 47% were West Eurasian. In 2012, Chinese researchers published an analysis of the paternal haplogroups of 12 elite Xiongnu male specimens from Heigouliang in Xinjiang, China. Six of the specimens belonged to Q1a, while four belonged to Q1b-M378. 2 belonged to unidentified clades of Q*. In another study, a probable Chanyu of the Xiongnu empire was assigned to haplogroup R1.

Maternal lineages

The bulk of the genetics research indicates that, as a whole, 73% of Xiongnu maternal haplogroups were East Eurasian, while 27% were West Eurasian. A 2003 study found that 89% of Xiongnu maternal lineages from the Egiin Gol

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