[EAST ASIA]

 

VOLUME 65, ISSUE 6P1718-1724, DECEMBER 01, 1999

Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age: The American Journal of Human Genetics (cell.com) 

 

 

 

November 28, 2000

Population structure and history in East Asia | PNAS

Map of sampled locations for mtDNA and STR loci. Data for other loci were assembled entirely from earlier studies (see Materials and Methods).

 

 

Published online 2001 Jul 30.

Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes - PMC (nih.gov)

Map of 25 sampling localities, divided into three regional groupings (NEAS, SEAS, and CAS). Numbers indicate population numerical codes, given in table 1. 

 

 

Published online 2005 Jul 14.

Y-Chromosome Evidence of Southern Origin of the East Asian–Specific Haplogroup O3-M122 - PMC (nih.gov)

The frequency distribution of the O3-M122 haplotypes in East Asian and other continental populations. The data used were from published studies (Su et al. 1999, 2000a, 2000b; Qian et al. 2000; Semino et al. 2000; Underhill et al. 2000; Karafet et al. 2001; Lell et al. 2002; Jin et al. 2003; Wen et al. 2004a).

 

 

GENETICS April 1, 2006

Male Demography in East Asia: A North–South Contrast in Human Population Expansion Times | Genetics | Oxford Academic (oup.com)

Geographical distributions of Y-chromosomal haplogroups. (A) Populations sampled. (B–F) Haplogroup frequencies: circle area is proportional to sample size and sector area to haplogroup frequency. (B–E) Haplogroups are sorted into those showing predominantly northern (B), western (C), southern (D), and eastern (E) distributions. (F) The overall frequency of the most common haplogroup, O.

 

 

Y chromosome evidence of earliest modern human settlement in East Asia and multiple origins of Tibetan and Japanese populations | BMC Biology | Full Text (biomedcentral.com)

 

 

Published online 2008 Dec 5.

Analysis of East Asia Genetic Substructure Using Genome-Wide SNP Arrays - PMC (nih.gov)  

Principal component analyses of substructure in a diverse set of subjects of East Asian descent.

Graphic representation of the first two PCs based on analysis with >200 K SNPs are shown. Color code shows subgroup of subjects for each population group. The subjects included Filipino (FIL), Vietnamese (VIET), Lahu, Dai, Cambodian (CAMB), Han Chinese (CHB), Mongola (MGL), Oroqen (ORQ), Daur, Korean (KOR), Chinese Americans from Taiwan (TWN),Yi, Hezhen (HEZ), Miaozu (MIAO), Naxi, She, Tu, Tujia (TUJ), Xibo, Chinese Americans (CHA), Japanese (JPT), and Yakut (YAK). A, Analyses including the Yakut population group. B, Analysis without Yakut is shown. C, Approximate geographic origin of population group is depicted on a map of East Asia (downloaded from University of Texas Library website). The positions of the HGDP population groups are based on the collection site information[12] and the other population groups were placed based on self-identified country or region of origin. [Note: Yakut are not shown on the map since this population is from Siberia and is a considerable distance north of the depicted region.] D, Shows rotated results of PC1 and PC2 to assist illustration of geographic correspondence of ethnic group locations.

 

 

Published online 2009 Feb 6.

Timing the first human migration into eastern Asia | Journal of Biology | Full Text (biomedcentral.com)

A simplified scenario of early human migration routes and dates. Modern humans originated in Africa, probably around 200,000 years ago (200 KYA). One or more routes out of Africa are possible, but the number of individuals involved was very limited, with perhaps only 600 females. Migration probably followed a coastal route, with humans arriving in the Indian subcontinent about 70,000 years ago. The analysis by Shi et al. [2] suggests that humans arrived in southern East Asia around 60,000 years ago and then proceeded north to occupy northern East Asia and Japan.

 

 

23 February 2010 

The Human Genetic History of East Asia: Weaving a Complex Tapestry: Current Biology (cell.com)

Figure 1Map depicting the distribution of major mtDNA haplogroups in East Asia.

 

Figure 2Map depicting the distribution of major NRY haplogroups in East Asia.

 

 

Global distribution of Y-chromosome haplogroup C reveals the prehistoric migration routes of African exodus and early settlement in East Asia | Journal of Human Genetics (nature.com)

Frequency distribution of Hg C in worldwide populations and the inferred migration routes of the African exodus carrying the M130 mutation in prehistory.

 

 

Published: 13 September 2010

Extended Y Chromosome Investigation Suggests Postglacial Migrations of Modern Humans into East Asia via the Northern Route | Molecular Biology and Evolution | Oxford Academic (oup.com)

 

 

Published: 20 April 2011

An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4 | European Journal of Human Genetics (nature.com)

 

 

Published online 2011 Oct 6.

Major Population Expansion of East Asians Began before Neolithic Time: Evidence of mtDNA Genomes - PMC (nih.gov)

 

 

Published online 2013 Jun 3.

Inferring human history in East Asia from Y chromosomes - PMC (nih.gov)

Geographic distributions of Y chromosome haplogroups C, D, N and O in East Asia.

 

 

Published online 2013 Nov 20.

Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans - PMC (nih.gov)

 

Sample locations and MA-1 genetic affinities. a, Geographical locations of Mal’ta and Afontova Gora-2 in south-central Siberia. For reference, Palaeolithic sites with individuals belonging to mtDNA haplogroup U are shown (red and black triangles): 1, Oberkassel; 2, Hohle Fels; 3, Dolni Vestonice; 4, Kostenki-14. A Palaeolithic site with an individual belonging to mtDNA haplogroup B is represented by the square: 5, Tianyuan Cave. Notable Palaeolithic sites with Venus figurines are marked by brown circles: 6, Laussel; 7, Lespugue; 8, Grimaldi; 9, Willendorf; 10, Gargarino. Other notable Palaeolithic sites are shown by grey circles: 11, Sungir; 12, Yana RHS. b, PCA (PC1 versus PC2) of MA-1 and worldwide human populations for which genomic tracts from recent European admixture in American and Siberian populations have been excluded19. c, Heat map of the statistic f3(Yoruba; MA-1, X) where X is one of 147 worldwide non-African populations (standard errors shown in Supplementary Fig. 21). The graded heat key represents the magnitude of the computed f3 statistics.

 

 

Published: 21 October 2015

Deep History of East Asian Populations Revealed Through Genetic Analysis of the Ainu | Genetics | Oxford Academic (oup.com)

 

Geographic location of East Asian and Siberian population samples used in this study. The zoom-in plot highlights the region around the Japanese archipelago and the Sea of Okhotsk.

 

 

  • Published: April 5, 2017

Phylogeography of Y-chromosome haplogroup O3a2b2-N6 reveals patrilineal traces of Austronesian populations on the eastern coastal regions of Asia | PLOS ONE

 

 

 
 

Published: 18 November 2005

Map showing the approximate geographic positions of 39 populations sampled in this study. The populations are grouped into four major geographic areas (dashed circles surround Central, Southeastern, and Northeastern Asians). Three letter codes are as follows: Japan: AIN Ainu, AOM Aomori, SHI Shizuoka, TOK Tokushima, KYU Kyushu, OKI Okinawa; Northeast Asia: KOR Korea, NHA northern Han, MAN Manchu, MEV Manchurian Evenk, BUR Buryat, EVK Evenk, EVN Even, ORO Oroqen; Southeast Asia: TAI Taiwan Han and Hakka, TAB Taiwan Aboriginal, SHA Southern Han, TUJ Tujia, YIZ Yizu, MIA Miao, YAO Yao, ZHU Zhuang, SHE She, VIE Vietnam, MAL Malay, FIL Philippines, INW Indonesia West; Central Asia: UYG Uygur, MON Mongolia, ALT Altai, TIB Tibet; South Asia: IND India and SRI Sri Lanka; Oceania: INE Indonesia East, AUS Australian aboriginal people, PNG Papua New Guinea, MEL Melanesia, MIC Micronesia, POL Polynesia. The sampling locations of four populations (EVN, MIC, POL, MEL) are not on the map

 

 
 
September 29, 1998

Genetic relationship of populations in China | PNAS

Hypothetical ancestral migration routes to the Far East. Refer to Table 1 for names of the numbered populations.  

 

[NORTH ASIA]

 

Published online 2007 Oct 1.

Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations: The American Journal of Human Genetics (cell.com)

Figure 1Population sample sites, with sample sizes given in parentheses
 

 

Investigating Holocene human population history in North Asia using ancient mitogenomes | Scientific Reports (nature.com)

 

Geographic map and timeline showing the sampling locations and radiocarbon dated ages of ancient individuals. For detailed information about the samples and sites, authenticity of the sequences and stable isotopes see Supplementary Tables S1S3 and Figs S1 and S2 in Supplementary Information. Cis-Baikal individuals are represented as circles, Trans-Baikal individuals are represented as triangles and Yakutia individuals are represented as squares.

 

 

[SIBERIA]

2005 Jan

 

Ancient links between Siberians and Native Americans revealed by subtyping the Y chromosome haplogroup Q1a | Journal of Human Genetics (nature.com)

 

 

Published online 2013 Dec 12.

Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers - PMC (nih.gov)

Map of Siberia showing approximate locations of sampled populations and their basic haplogroup composition.

(Sub)population abbreviations as in Table 1.

 

 

 
 

"아메리카 인디언 조상, 극동 바이칼호 주변에 살았다" | 연합뉴스 (yna.co.kr)

송고시간2020-05-23 09:00

 

(블라디보스토크=연합뉴스) 김형우 특파원 = 아메리카 대륙에 사는 인디언들의 기원을 두고 학계의 연구가 이어지고 있는 가운데 인디언들의 조상을 러시아 바이칼호 주변에 살았던 고대인과 연결 짓는 흥미로운 연구 결과가 나왔다.

23일 러시아 관영 타스 통신과 UPI 통신 등에 따르면 독일 막스 플랑크 인류 역사과학연구소와 러시아 과학아카데미, 모스크바국립대 등이 주축이 된 국제 연구진은 최근 이런 조사 결과를 저널 'CELL'에 게재했다.

연구진은 옛 소련 고고학자들이 1960∼70년대 러시아 극동 부랴티야 공화국 남쪽 우스티캬크타 지역에서 발견한 1만4천년 전 고대인의 치아에서 나온 DNA를 게놈(genome·유전체) 분석한 끝에 아메리카 대륙에 사는 인디언들과의 관계를 밝혀낼 수 있었다고 밝혔다.

 
부랴티야 공화국에서 발견된 고대인의 치아

[막스 플랑크 인류역사과학연구소 홈페이지 캡처, 재배포 및 DB화 금지]

고대인의 치아에서 발견된 유전자는 아메리카에 있는 옛 원주민의 것과 상당히 유사했다.

독일 막스 플랑크 인류 역사과학연구소 생물학자인 허위는 UPI 통신에 "이번 연구에서 관찰된 상부 구석기 시베리아인(Upper Paleolithic Siberian)과 아메리카 원주민(First Americans)의 강력한 연결고리는 양쪽이 동일한 조상(same admixed ancestry)을 공유하고 있다는 점"이라고 밝혔다.

연구에 공동으로 참여했던 서울대학교 자연과학대학 생명과학부 정충원 조교수는 연합뉴스에 "이번 연구는 아메리카 원주민의 조상이 바이칼호 주변에 살았던 고대인이었을 수 있다는 가능성을 제시했다는 점에서 의미가 있다"고 설명했다.

연구팀은 또 일부 유골에서 흑사병의 원인균인 예르시니아 페티스(Yersinia petis)라는 세균이 발견됐다고도 했다.

vodcast@yna.co.kr

 

 

 

05 Jun 2019

DNA from 31,000-year-old milk teeth leads to discovery of new group of ancient Siberians | University of Cambridge

The two 31,000-year-old milk teeth found at the Yana Rhinoceros Horn Site in Russia which led to the discovery of a new group of ancient Siberians

 

 

Prehistoric Environment, Human Migrations and Origin of Pastoralism in Northern Eurasia | SpringerLink

 

Genetic history of East Asians - Wikipedia

 

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

Overview[edit]

Phylogenetic position of East Asian lineages among other Eastern Eurasians
Schematic of Populations in Eurasia from 45 to 10 kaBP.
Highlighted regions show where ancient individuals associated with the labeled ancestry have been sampled.

Population genomic studies have studied the origin and formation of modern East Asians. Ancestors of East Asians (Ancient East Eurasians) split from other human populations possibly as early as 70,000 to 50,000 years ago. Possible routes into East Asia include a northern route model from Central Asia, beginning north of the Himalayas, and a southern route model, beginning south of the Himalayas and moving through Southeast Asia.[1][2]

Phylogenetic data suggests that an early Initial Upper Paleolithic wave (>45kya) "ascribed to a population movement with uniform genetic features and material culture" (Ancient East Eurasians) used a Southern dispersal route through South Asia, where they subsequently diverged rapidly, and gave rise to Australasians (Oceanians), the Ancient Ancestral South Indians (AASI), as well as Andamanese and East/Southeast Asians,[3] although Papuans may have also received some geneflow from an earlier group (xOoA),[4] around 2%,[5] next to additional archaic admixture in the Sahul region.

The southern route model for East Asians has been corroborated in multiple recent studies, showing that most of the ancestry of Eastern Asians arrived from the southern route in to Southeast Asia at a very early period, starting perhaps as early as 70,000 years ago, and dispersed northward across Eastern Asia.[6][7][8][9][10][11] However, genetic evidence also supports more recent migrations to East Asia from West Eurasia along the northern route, as shown by the presence of haplogroups Q and R, as well as Ancient North Eurasian ancestry.[12][13]

The southern migration wave likely diversified after settling within East Asia, while the northern wave, which probably arrived from the Eurasian steppe, mixed with the southern wave, probably in Siberia.[14]

A review paper by Melinda A. Yang (in 2022) described the 'East- and Southeast Asian' lineage (ESEA); which is ancestral to modern East AsiansSoutheast AsiansPolynesians, and Siberians, originated in Mainland Southeast Asia at c. 50,000 BCE, and expanded through multiple migration waves southwards and northwards, respectively. The ESEA lineage is also ancestral to the "basal Asian" Hoabinhian hunter-gatherers of Southeast Asia and the c. 40,000-year-old Tianyuan lineage found in Northern China, which can already be differentiated from the deeply related Ancestral Ancient South Indians (AASI) and Australasian (AA) lineages.[15] There are currently eight detected, closely related, sub-ancestries in the ESEA lineage:

Proposed migration routes (Wang 2013) of East Asian paternal haplogroups (C, D, N, and O), during the peopling of East Asia.[16]

Modern Northeast Asians derive most of their ancestry from the "Amur" (Ancient Northeast Asian) sub-linesge, which expanded massively with millet cultivation and pastoralism. Modern Southeast Asians (specifically Austronesians) mainly carry "Fujian" (Ancient Southern East Asian) ancestry, which is associated with the spread of rice cultivation. Contemporary East Asians (most notably Sino-Tibetan speakers) mostly have Yellow River ancestry, associated with both millet and rice cultivation. "East Asian Highlanders" (Tibetans) carry both Tibetan ancestry and Yellow River ancestry. Japanese people were found to have a tripartite origin; consisting of Jōmon ancestry, Amur ancestry, and Yellow River ancestry. Indigenous peoples of the Americas formed from Ancient North Eurasians and from an early Northern East Asian branch, giving rise to "Ancient Paleo-Siberians", which in turn gave rise to both "modern Paleosiberians" and contemporary Native Americans. Isolated hunter-gatherers in Southeast Asia, specifically in Malaysia and Thailand, such as the Semang, derive most of their ancestry from the Hoabinhian lineage.[17][18][19][20][21][22][23]

Proposed migration routes of maternal haplogroups during the peopling of Eurasia[24]

The genetic makeup of East Asians is primarily characerized by the Ancient Northern East Asian (ANEA) and Ancient Southern East Asian (ASEA) lineages, which diverged from each other at least 19,000 years ago, after the divergence of the Jōmon, Longlin, Hoabinhian and Tianyuan lineages.[25][3]

Ancient and historical populations[edit]

Xiongnu people[edit]

Main article: Xiongnu

The Xiongnu, possibly a TurkicMongolicYenisseian or multi-ethnic people, were a confederation[26] 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.[27]

Autosomal DNA[edit]

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".[28] 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.[28][29] The Xiongnu displayed striking heterogenity 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.[30][28] High status Xiongnu individuals tended to have less genetic diversity, and their ancestry was essentially derived from the Eastern Eurasian Ulaanzuukh/Slab Grave culture.[31]

Paternal lineages[edit]

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.[32] 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*.[33] In another study, a probable Chanyu of the Xiongnu empire was assigned to haplogroup R1.[34][35]

Maternal lineages[edit]

The bulk of the genetics research indicates that, as a whole, 73% of Xiongnu maternal haplogroups were East Eurasian, while 27% were West Eurasian.[36] A 2003 study found that 89% of Xiongnu maternal lineages from the Egiin Gol valley were of East Asian origin, while 11% were of West Eurasian origin.[37] A 2016 study of Xiongnu from central Mongolia found a considerably higher frequency of West Eurasian maternal lineages, at 37.5%.[38]

Xianbei people[edit]

Main article: Xianbei

Autosomal DNA[edit]

A full genome study on multiple Xianbei remains found them to be derived primarily to exclusively from the Ancient Northeast Asian gene pool.[39]

Paternal lineages[edit]

A genetic study published in the American Journal of Physical Anthropology in August 2018 noted that the paternal haplogroup C2b1a1b has been detected among the Xianbei and the Rouran, and was probably an important lineage among the Donghu people.[40]

Maternal lineages[edit]

Genetic studies published in 2006 and 2015 revealed that the mitochondrial haplogroups of Xianbei remains were of East Asian origin. According to Zhou (2006) the maternal haplogroup frequencies of the Tuoba Xianbei were 43.75% haplogroup D, 31.25% haplogroup C, 12.5% haplogroup B, 6.25% haplogroup A and 6.25% "other".[41] Zhou (2014) obtained mitochondrial DNA analysis from 17 Tuoba Xianbei, which indicated that these specimens were, similarly, completely East Asian in their maternal origins, belonging to haplogroups D, C, B, A, O and haplogroup G.[42][43]

Jōmon people[edit]

Main article: Jōmon people

The Jōmon people represent the indigenous population of the Japanese archipelago during the Jōmon period. They are inferred to descend from the Paleolithic inhabidants of Japan. Genetic analyses on Jōmon remains found them to represent a deeply diverged East Asian lineage. The Jōmon lineage is inferred to have diverged from Ancient East Asians before the divergence between Ancient Northern East Asians and Ancient Southern East Asians, but after the divergence of the basal Tianyuan man and or Hoabinhians. Beyond their broad affinity with Eastern Asian lineages, the Jōmon also display a weak affinity for Ancient North Eurasians (ANE), which may be associated with the introduction of microblade technology to Northeast Asia and northern East Asia during the Last Glacial Maximum via the ANE or Ancient Paleo-Siberians.[44][45]

Hoabinhians[edit]

Main article: Hoabinhian

The Hoabinhians represent a technologically advanced society of hunter-gatherers, primarily living in Mainland Southeast Asia, but also adjacent regions of Southern China. While the Upper Paleolithic origins of this 'Hoabinhian ancestry' are unknown, Hoabinhian ancestry has been found to be related to the main 'East Asian' ancestry component found in most modern East and Southeast Asians, although deeply diverged from it.[46][47] Together with the Paleolithic Tianyuan man, they form early branches of East Asian genetic diversity, and are described as "Basal Asian" (BA) or "Basal East Asian" (BEA).[48]

Modern populations[edit]

Genetic structure of present-day and ancient Eurasians.[49]
Main article: East Asian peoples

Manchu and Daur peoples[edit]

Main article: Tungusic peoples

Autosomal DNA[edit]

A study on the Manchu population of Liaoning reported that they have a close genetic relationship and significant admixture signals from northern Han Chinese. The Liaoning Manchu were formed from a major ancestral component related to Yellow River farmers and a minor ancestral component linked to ancient populations from the Amur River Basin, or others. The Manchu were therefore an exception to the coherent genetic structure of Tungusic-speaking populations, likely due to the large-scale population migrations and genetic admixtures in the past few hundred years.[50]

Paternal lineages[edit]

A plurality of Daur males belong to Haplogroup C-M217 (12/39 = 30.8% according to Xue Yali et al. 2006[51], 88/207 = 42.5% according to Wang Chi-zao et al. 2018[52]), with Haplogroup O-M122 being the second most common haplogroup among present-day Daurs (10/39 = 25.6%[51], 52/207 = 25.1%[52]). There are also tribes (halacf. Kazakh tribes) among the Daurs that belong predominantly to other Y-DNA haplogroups, such as Haplogroup N-M46/M178 (Merden hala) and Haplogroup O1b1a1a-M95 (Gobulo hala).[52] Haplogroup C3b2b1*-M401(xF5483)[53][54][55] has been identified as a possible marker of the Aisin Gioro and is found in ten different ethnic minorities in northern China, but is largely absent from Han Chinese.[56][57][55] The Manchu people also display a significant amount of haplogroup C-M217, but the most often observed Y-DNA haplogroup among present-day Manchus is Haplogroup O-M122, which they share in common with the general population of China.[58][51][59]

Ainu people[edit]

Main article: Ainu people

The exact origins of the early Ainu remains unclear, but it is generally agreed to be linked to the Satsumon culture of the Epi-Jōmon period, with later influences from the nearby Okhotsk culture.[60] The Ainu appear genetically most closely related to the Jōmon period peoples of Japan. The genetic makeup of the Ainu represents a "deep branch of East Asian diversity". Compared to contemporary East Asian populations, the Ainu share "a closer genetic relationship with northeast Siberians".[6][61]

Japanese people[edit]

A population genomic PCA graph, showing the substructure of Eastern Asian populations

Japanese populations in modern Japan are closely related to clusters found in North-Eastern Asia and are most similar to RyukyuansAinu peopleKoreans among other East Asian people.[62][63]

Autosomal DNA[edit]

The majority of Japanese genetic ancestry is derived from sources related to other mainland Asian groups, mostly Koreans, while the other amount is derived from the local Jōmon hunter-gatherers.[64]

Geomic transitions in parallel with cultural transitions in pre- and protohistoric Japan.

According to a full genome analyses, the modern Japanese harbor a Northeast Asian, an East Asian, and an indigenous Jōmon component. In addition to the indigenous Jōmon hunter-gatherers and the Yayoi period migrants, a new strand was hypothesized to have been introduced during the Yayoi-Kofun transition period that had strong cultural and political affinity with Korea and China.[65]

Paternal lineages[edit]

A comprehensive study of worldwide Y-DNA diversity (Underhill et al. 2000) included a sample of 23 males from Japan, of whom 35% belonged to haplogroup D-M174, 26% belonged to O-M175, 22% belonged to O-M122, 13% belonged to C-M8 and C-M130, and 4.3% belonged to N-M128.[66] Poznik et al. (2016) reported the haplogroups of a sample of Japanese men from Tokyo:[67] 36% belonged to D2-M179, 32% had O2b-M176, 18% carried O3-M122, 7.1% carried C1a1-M8, 3.6% belonged to O2a-K18, and 3.6% carried C2-M217.[68]

Maternal lineages[edit]

According to an analysis of the 1000 Genomes Project's sample of Japanese collected in the Tokyo metropolitan area, the mtDNA haplogroups found among modern Japanese include D (35.6%), B (13.6%), M7 (10.2%), G (10.2%), N9 (8.5%), F (7.6%), A (6.8%), Z (3.4%), M9 (2.5%), and M8 (1.7%).[69]

Korean people[edit]

Main article: Koreans
Regional reference panel, PCA, and Admixture analysis

Modern Koreans are overall more similar to northeast Asians than to southeast Asians.[70] The reference population for Koreans used in Geno 2.0 Next Generation is 94% Eastern Asia and 5% Southeast Asia & Oceania.[71]

Autosomal DNA[edit]

Ancient genome comparisons revealed that the genetic makeup of Koreans can be best described as an admixture between Northern East Asian hunter-gatherers and an influx of rice-farming agriculturalists from the Yangtze river valley.[70] This is supported by archeological, historical and linguistic evidence, which suggest that the direct ancestors of Koreans were proto-Koreans who inhabited the northeastern region of China and the Korean Peninsula during the Neolithic (8,000–1,000 BC) and Bronze (1,500–400 BC) Ages.[72]

There is evidence for considerable genetic diversity,[73] including elevated levels of Jōmon ancestry among early southern Koreans.[74] It was hypothesized that the Jōmon ancestry of ancient Koreans was lost over time, as they continually mixed with incoming populations from northern China,[75] followed by a period of isolation during the Three Kingdoms period, resulting in the homogenous gene pool of modern Koreans.[76][73]

qpAdm analysis of ancient Koreans with Jōmon genes. (Gelabert 2022)

A 2022 study was unable to detect significant Jōmon ancestry in modern Koreans, however by using different proxies of ancestry, a Jōmon contribution of 3.1-4.4% was found for present-day Ulsan Koreans. Nevertheless, the authors suggested that the model that yielded this result is not the most reliable.[77]

Evidence for both Southern and Northern mtDNA and Y-DNA haplogroups has been observed in Koreans, similar to Japanese.[78]

Paternal lineages[edit]

Studies of polymorphisms in the human Y-chromosome have so far produced evidence to suggest that the Korean people have a long history as a distinct, mostly endogamous ethnic group, with successive waves of people moving to the peninsula and three major Y-chromosome haplogroups.[79] The majority of Koreans belong to the sub-clades of haplogroup O-M175 (c. 79%), while a significant minority belongs to sub-clades of C-M217 (c. 13%). There is also a lower frequency of haplogroups N-M231 and D-M55.[80][81][82]

Maternal lineages[edit]

Studies of Korean mitochondrial DNA lineages have shown that there is a high frequency of Haplogroup D4, followed by haplogroup B, and haplogroup A. Haplogroups with lower frequency include GN9YFD5M7M8M9M10M11R11C, and Z.[83][84][85]

Mongolic peoples[edit]

Main article: Mongolic peoples

The ethnogenesis of Mongolic peoples is largely linked with the expansion of Ancient Northeast Asians. They subsequently came into contact with other groups, notably Sinitic peoples to their South and Western Steppe Herders to their far West. The Mongolians pastoralist lifestyle, may in part be derived from the Western Steppe Herders, but without much geneflow between these two groups, suggesting cultural transmission.[86][87] The Mongols are believed to be the descendants of the Xianbei and the proto-Mongols. The former term includes the Mongols proper (also known as the Khalkha Mongols), Oirats, the Kalmyk people and the Southern Mongols. The latter comprises the Abaga MongolsAbaganarAohansBaarinsGorlos MongolsJalaidsJaruudKhishigtenKhuuchidMuumyangan and Onnigud. The Daur people are descendants of the para-Mongolic Khitan people.[88]

Paternal lineages[edit]

The majority of Mongols in Mongolia and Russia belong to subclades of haplogroup C-M217,[89] followed by lower frequency of O-M175 and N-M231.[90] A minority belongs to haplogroup Q-M242, and a variety of West Eurasian haplogroups.[91]

Maternal lineages[edit]

The maternal haplogroups are diverse but similar to other northern Asian populations, including Haplogroup DHaplogroup CHaplogroup B, and Haplogroup A, which are shared among indigenous American and Asian populations.[92]

Han Chinese[edit]

See also: Han Chinese
By contrasting ancient samples with contemporary individuals, it is evident that modern Chinese people exhibit both Ancient Northern East Asian and Ancient Southern East Asian ancestries.[93]

Han Chinese descend primarily from Neolithic Yellow River farmers, which formed primarily from Ancient Northern East Asians with some contributions from Ancient Southern East Asians. Northern Han Chinese mostly carry ANEA ancestry with a moderate degree of ASEA admixture, whereas southern Han Chinese carry significantly higher levels of ASEA ancestry.[94][95][96]

Autosomal DNA[edit]

A 2018 study calculated pairwise FST (a measure of genetic difference) based on genome-wide SNPs, among the Han Chinese (Northern Han from Beijing and Southern Han from HunanJiangsu and Fujian provinces), Japanese and Korean populations sampled. It found that the smallest FST value was between Northern Han Chinese (Beijing) (CHB) and Southern Han (Hunan, Fujian, etc.) Chinese (CHS) (FST[CHB-CHS] = 0.0014), while CHB and Korean (KOR) (FST[CHB-KOR] = 0.0026) and between KOR and Japanese (JPT) (FST[JPT-KOR] = 0.0033). Generally, pairwise FST between Han Chinese, Japanese and Korean (0.0026~ 0.0090) are greater than that within Han Chinese (0.0014). These results suggested Han Chinese, Japanese and Korean are different in terms of genetic make-up, and the differences among the three groups are much larger than that between northern and southern Han Chinese.[97] Nonetheless, there is also genetic diversity among the Southern Han Chinese. The genetic composition of the Han population in Fujian might not accurately represent that of the Han population in Guangdong.

A PCA graph illustrates the genetic differences among Han Chinese groups.[98]

Another study shows that the northern and southern Han Chinese are genetically close to each other and it finds that the genetic characteristics of present-day northern Han Chinese were already formed prior to three thousand years ago in the Central Plain area.[99]

A recent genetic study on the remains of people (~4,000 years BP) from the Mogou site in the Gansu-Qinghai (or Ganqing) region of China revealed more information on the genetic contributions of these ancient Di-Qiang people to the ancestors of the Northern Han. It was deduced that 3,300 to 3,800 years ago some Mogou people had merged into the ancestral Han population, resulting in the Mogou people being similar to some northern Han in sharing up to ~33% paternal (O3a) and ~70% maternal (D, A, F, M10) haplogroups. The mixture rate was possibly 13–18%.[100]

The estimated contribution of northern Han to southern Han is substantial in both paternal and maternal lineages and a geographic cline exists for mtDNA. As a result, the northern Han are one of the primary contributors to the gene pool of the southern Han. However, it is noteworthy that the expansion process was not only dominated by males, as is shown by both contribution of the Y-chromosome and the mtDNA from northern Han to southern Han. Northern Han Chinese and Southern Han Chinese exhibit both Ancient Northern East Asian and Ancient Southern East Asian ancestries.[93] These genetic observations are in line with historical records of continuous and large migratory waves of northern China inhabitants escaping warfare and famine, to southern China. Aside from these large migratory waves, other smaller southward migrations occurred during almost all periods in the past two millennia.[101] A study by the Chinese Academy of Sciences into the gene frequency data of Han subpopulations and ethnic minorities in China showed that Han subpopulations in different regions are also genetically quite close to the local ethnic minorities, suggesting that in many cases, ethnic minorities ancestry had mixed with Han, while at the same time, the Han ancestry had also mixed with the local ethnic minorities.[102]

An extensive, genome-wide association study of the Han population in 2008, shows that geographic-genetic stratification from north to south has occurred and centrally placed populations act as the conduit for outlying ones.[103] Ultimately, with the exception in some ethnolinguistic branches of the Han Chinese, such as Pinghua, there is "coherent genetic structure" (homogeneity) in all Han Chinese.[104]

Paternal lineages[edit]

The major haplogroups of Han Chinese belong to subclsdes of Haplogroup O-M175. Y-chromosome O2-M122 is a common DNA marker in Han Chinese, as it appeared in China in prehistoric times, and is found in more than 50% of Chinese males, with frequencies tending to be high toward the east of the country, ranging from 29.7% to 52% in Han from southern and central China, to 55-68% in Han from the eastern and northeastern Chinese mainland and Taiwan.[105]

Other Y-DNA haplogroups that have been found with notable frequency in samples of Han Chinese include O-P203 (9.1%-13.0%), C-M217 (6.0%-12.0%), N-M231 (3.6%-10.3%), O-M268(xM95, M176) (4.7-7%), and Q-M242 (2/168 = 1.2-4.2%).[106][105]

Maternal lineages[edit]

The mitochondrial-DNA haplogroups of the Han Chinese can be classified into the northern East Asian-dominating haplogroups, including A, C, D, G, M8, M9, and Z, and the southern East Asian-dominating haplogroups, including B, F, M7, N*, and R.[101]

These haplogroups account for 52.7% and 33.85% of those in the Northern Han, respectively. Haplogroup D is the modal mtDNA haplogroup among northern East Asians. Among these haplogroups, D, B, F, and A were predominant in the Northern Han, with frequencies of 25.77%, 11.54%, 11.54%, and 8.08%, respectively.

However, in the Southern Han, the northern and southern East Asian-dominating mtDNA haplogroups accounted for 35.62% and 51.91%, respectively. The frequencies of haplogroups D, B, F, and A reached 15.68%, 20.85%, 16.29%, and 5.63%, respectively.[99][107][108][109][110]

Tibetan peoples[edit]

Main article: Tibetan people

The ethnic roots of Tibetans can be traced back to an deep Eastern Asian lineage representing the indigenous population of the Tibetan plateau since c. 40,000 to 30,000 years ago, and arriving Neolithic farmers from the Yellow River within the last 10,000 years associated, and which can be associated with having introduced the Sino-Tibetan languages. Modern Tibetans derive up to 20% from Paleolithic Tibetans, with the remaining 80% being primarily derived from Yellow River farmers. The present-day Tibetan gene pool was formed at least 5,100 years BP.[111][112]

Paternal lineage[edit]

Tibetan males predominantly belong to the paternal lineage D-M174 followed by lower amounts of O-M175.[113]

Maternal lineage[edit]

Tibetan females belong mainly to the Northeast Asian maternal haplogroups M9a1a, M9a1b, D4g2, D4i and G2ac, showing continuity with ancient middle and upper Yellow River populations.[114]

Turkic peoples[edit]

Linguistic and genetic evidence strongly suggests an early presence of Turkic peoples in eastern Mongolia.[115] The genetic evidence suggests that the Turkification of Central Asia was carried out by East Asian dominant minorities migrating out of Mongolia.[30]

Genetic data found that almost all modern Turkic-speaking peoples retained at least some shared ancestry associated with "Southern Siberian and Mongolian" (SSM) populations, supporting this region as the "Inner Asian Homeland (IAH) of the pioneer carriers of Turkic languages" which subsequently expanded into Central Asia.[116]

Population structure of Turkic-speaking populations in the context of their geographic neighbors across Eurasia. Turkic-speaking populations are shown in red. The upper barplot shows only Turkic-speaking populations.
Genetic, archeologic and linguistic evidence links the early Turkic peoples with Northeast Asian millet-agriculturalists, which later adopted a nomadic lifestyle and expanded from eastern Mongolia westwards.

An Ancient Northeast Asian origin of the early Turkic peoples has been corroborated in multiple recent studies. Early and medieval Turkic groups however exhibited a wide range of both (Northern) East Asian and West Eurasian genetic origins, in part through long-term contact with neighboring peoples such as Iranian, Mongolic, Tocharian, Uralic and Yeniseian peoples, and others.[117][118][119][120][121][122]

Paternal lineages[edit]

Common Y-DNA haplogroups in Turkic peoples are Haplogroup N-M231 (found with especially high frequency among Turkic peoples living in present-day Russia), Haplogroup C-M217 (especially in Central Asia and, in particular, Kazakhstan), Haplogroup Q-M242 (especially in Southern Siberia and among Turkmens and the Qangly tribe of Kazakhs), and Haplogroup O-M175 (especially among Turkic peoples living in present-day China and the Naiman tribe of Kazakhs). Some groups also have Haplogroup R1b (notably frequent among the Teleuts and Kumandins of Southern Siberia, the Bashkirs of the Southern Ural region of Russia, and the Qypshaq tribe of Kazakhs), Haplogroup R1a (notably frequent among the KyrgyzAltaians, and several other Turkic peoples living in present-day Russia), Haplogroup J-M172 (especially frequent among UyghursAzerbaijanis, and Turkish people), and Haplogroup D-M174 (especially among Yugurs, but also observed regularly with low frequency among Southern AltaiansNogaisKazakhs, and Uzbeks).[123][124]

Relationship to other Asia-Pacific and Native American populations[edit]

Central Asians[edit]

PCA of various populations in the context of Eurasia and the Americas.

The genetic evidence suggests that the Turkification of Central Asia was carried out by East Asian dominant minorities migrating out of Mongolia.[125] According to a recent study, the Turkic Central Asian populations, such as Kyrgyz, Kazakhs, Uzbeks, and Turkmens share more of their gene pool with various East Asian and Siberian populations than with West Asian or European populations. The study further suggests that both migration and linguistic assimilation helped to spread the Turkic languages in Eurasia.[126]

North Asians and Native Americans[edit]

Genetic data suggests that Siberia was populated during the Terminal Upper-Paleolithic (36+-1,5ka) period from a distinct Paleolithic population migrating through Central Asia into Northern Siberia. This population is known as Ancient North Eurasians or Ancient North Siberians.

Between 30,000 and 25,000 years ago, the ancestors of both Paleo-Siberians and Native Americans originated from admixture between Ancient North Eurasians/Siberians and an Ancient East Asian lineage.[127][128] Ancestral Native Americans (or Ancient Beringians) later migrated towards the Beringian region, became isolated from other populations, and subsequently populated the Americas. Further geneflow from Northeast Asia resulted in the modern distribution of "Neo-Siberians" (associated with 'Altaic speakers') through the merger of Paleo-Siberians with Northeast Asians.[129][130][131]

Overall, while Northern Asians cluster closely to East Asians, they are shifted into a distinct position. "Analyses of all 122 populations confirm many known relationships and show that most populations from North Asia form a cluster distinct from all other groups. Refinement of analyses on smaller subsets of populations reinforces the distinctiveness of North Asia and shows that the North Asia cluster identifies a region that is ancestral to Native Americans."[132]

Native Americans[edit]

Multiple studies suggests that all Native Americans ultimately descended from a single founding population that initially diverged from" Ancestral Beringians" which shared a common origin with Paleo-Siberians from the merger of Ancient North Eurasians and a Basal-East Asian source population in Mainland Southeast Asia around 36,000 years ago, at the same time at which the proper Jōmon people split from Basal-East Asians, either together or during a separate expansion wave. The basal northern and southern Native American branches, to which all other Indigenous peoples belong, diverged around 16,000 years ago, although earlier dates were also proposed.[49][133] An indigenous American sample from 16,000 BCE in Idaho, which is craniometrically similar to modern Native Americans, was found to have been closely related to Paleosiberians, confirming that Ancestral Native Americans split from an ancient Siberian source population somewhere in northeastern Siberia. Genetic data on samples with alleged "Paleo-Indian" morphology turned out to be closely related to contemporary Native Americans, disproving a hypothetical earlier migration into the Americas. The scientists suggest that variation within Native American morphology is just that, the natural variation which have arisen during the formation of Ancestral Native Americans. Signals of a hypothetical "population Y", if not a false positive, are likely explained through a now extinct population from East Asia (eg. Tianyuan man, which contributed low amounts of ancestry to the Ancestral Native American gene pool in Asia, and perhaps also towards other Asian and Oceanian populations.[134][133][135][136][137]

South Asians[edit]

Genomic studies have described the genetic landscape of South Asia as a composite of West-Eurasian and East Asian exogenous components that mixed with the indigenous South Asian component termed Ancient Ancestral South Indians ("AASI").[138][3] The East Asian-related ancestry component forms the major ancestry among Tibeto-Burmese and Khasi-Aslian speakers in the Himalayan foothills and Northeast India,[139][140] and is generally distributed throughout South Asia at lower frequency, with substantial presence in Mundari-speaking groups.[139][140]

According to a genetic research (2015) including linguistic analyses, suggests an East Asian origin for proto-Austroasiatic groups, which first migrated to Southeast Asia and later into India.[141] According to Ness, there are three broad theories on the origins of the Austroasiatic speakers, namely northeastern India, central or southern China, or southeast Asia.[142] Multiple researches indicate that the Austroasiatic populations in India are derived from (mostly male dominated) migrations from Southeast Asia during the Holocene.[143][141][144][145][146][147] According to Van Driem (2007), "...the mitochondrial picture indicates that the Munda maternal lineage derives from the earliest human settlers on the Subcontinent, whilst the predominant Y chromosome haplogroup argues for a Southeast Asian paternal homeland for Austroasiatic language communities in India."[144]: 7 

According to Chaubey et al. (2011), "Austroasiatic speakers in India today are derived from dispersal from Southeast Asia, followed by extensive sex-specific admixture with local Indian populations."[143] According to Zhang et al. (2015), Austroasiatic (male) migrations from southeast Asia into India took place after the lates Glacial maximum, circa 4,000 years ago.[141] According to Arunkumar et al. (2015), Y-chromosomal haplogroup O2a1-M95, which is typical for Austroasiatic speaking peoples, clearly decreases from Laos to east India, with "a serial decrease in expansion time from east to west," namely "5.7 ± 0.3 Kya in Laos, 5.2 ± 0.6 in Northeast India, and 4.3 ± 0.2 in East India." This suggests "a late Neolithic east to west spread of the lineage O2a1-M95 from Laos."[146][148] According to Riccio et al. (2011), the Munda people are likely descended from Austroasiatic migrants from southeast Asia.[145][149] According to Ness, the Khasi probably migrated into India in the first millennium BCE.[142]

According to Yelmen et al. 2019, the two main components of Indian genetic variation; the South Asian populations that "separated from East Asian and Andamanese populations" form one of the deepest splits among non-african groups compared to the West Eurasian component because of "40,000 years of independent evolution".[150]

Geneflow from Southeast Asians (particularly Austroasiatic groups) to South Asian peoples is associated with the introduction of rice-agriculture to South Asia. There is significant cultural, linguistic, and political Austroasiatic influence on early India, which can also be observed by the presence of Austroasiatic loanwords within Indo-Aryan languages.[151][152]

Southeast Asians[edit]

Estimated ancestry components among selected modern populations per Changmai et al (2022). The yellow component represents East Asian-like ancestry.[153]

A 2020 genetic study about Southeast Asian populations, found that mostly all Southeast Asians are closely related to East Asians and have mostly "East Asian-related" ancestry.[19][154]

Ancient remains of hunter-gatherers in Maritime Southeast Asia, such as one Holocene hunter-gatherer from South Sulawesi, had ancestry from both, an Australasian lineage (represented by Papuans and Aboriginal Australasians) and an "Ancient Asian" lineage (represented by East Asians or Andamanese Onge). The hunter-gatherer individual had approximately c. 50% "Basal-East Asian" ancestry and c. 50% Australasian/Papuan ancestry, and was positioned in between modern East Asians and Papuans of Oceania. The authors concluded that East Asian-related ancestry expanded from Mainland Southeast Asia into Maritime Southeast Asia much earlier than previously suggested, as early as 25,000 BCE, long before the expansion of Austroasiatic and Austronesian groups.[155]

A 2022 genetic study confirmed the close link between East Asians and Southeast Asians, which the authors term "East/Southeast Asian" (ESEA) populations, and also found a low but consistent proportion of South Asian-associated "SAS ancestry" (best samplified by modern Bengalis from Dhaka, Bangladesh) among specific Mainland Southeast Asian (MESA) ethnic groups (~2–16% as inferred by qpAdm), likely as a result of cultural diffision; mainly of South Asian merchants spreading Hinduism and Buddhism among the Indianized kingdoms of Southeast Asia. The authors however caution that Bengali samples harbor detechtable East Asian ancestry, which may affect the estimation of shared haplotypes. Overall, the geneflow event is estimated to have happened between 500–1000 YBP.[156]

Australasians[edit]

PCA plot of genetic variationof worldwide populations. Australasians (green) cluster relative close to other East Eurasians, such as East/Southeast Asians.

PapuansMelanesians, and Aboriginal Australians are deeply related to East Asians. Genetic studies have revealed that Australasians descended from the same Eastern Eurasian source population as East Asians and indigenous South Asians (AASI).[157]

 

 

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