Genetic history of East Asians
The genetic history of East Asians relates to the genetic makeup of people within East Asia.
Xiongnu people (ancient)
The Xiongnu, possibly a Turkic, Iranian, Mongolic, Yenisseian or multi-ethnic people, were a confederation of nomadic peoples who, according to ancient Chinese sources, inhabited the eastern Asian 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.A majority of the Xiongnu sequences can be classified as belonging to Asian haplogroups, and nearly 11% belong to European haplogroups.
Paternal lineages
Over the past decade, Chinese archaeologists have published several reviews regarding the results of excavations in Xinjiang. They imply the genetic composition of Xiongnu's supreme ruling class. Particularly interesting are the tombs in the cemetery at Heigouliang, Xinjiang, east of the Barkol basin, near the city of Hami. By typing results of DNA samples during the excavation of one of the tombs, it was determined that of the 12 men: 6 Q1a*, 4 Q1b-M378, 2 Q* :In a paper, the author analyzed the Y-DNAs of the ancient male samples from the 2nd or 1st century BCE cemetery at Heigouliang in Xinjiang – which is also believed to be the site of a summer palace for Xiongnu kings – which is east of the Barkol basin and near the city of Hami. The Y-DNA of 12 men excavated from the site belonged to Q-MEH2 or Q-M378. The Q-M378 men among them were regarded as hosts of the tombs; half of the Q-MEH2 men appeared to be hosts and the other half as sacrificial victims.
Xianbei people (ancient)
The origins of the Xianbei are unclear. Chinese anthropologist Zhu Hong and Zhang Quanchao studied Xianbei crania from several sites of Inner Mongolia and noticed that anthropological features of studied Xianbei crania show that the racial type is closely related to the modern East-Asian Mongoloids, and some physical characteristics of those skulls are closer to modern Mongols, Manchu and Han Chinese.Maternal lineages
Genetic studies published in 2006 and 2015 revealed that the mitochondrial haplogroups of Xianbei remains were of East Asian origin. According to Zhou the 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."Zhou 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 and haplogroup G.
The research also found a relation between Xianbei individuals with modern Oroqen, Ewenki and Outer Mongolian people. Especially Tungusic Oroqen show close relation to Xianbei.
Genetic history of Han Chinese
A 2018 study calculated pairwise FST based on genome-wide SNPs, among the Han Chinese, Japanese and Korean populations sampled. It found that the smallest FST value was between North Han Chinese and South Han Chinese , while CHB and Korean and between KOR and Japanese . Generally, pairwise FST between Han Chinese, Japanese and Korean are greater than that within Han Chinese. These results suggested Han Chinese, Japanese and Korean are different in terms of genetic make-up, and the difference among the three groups are much larger than that between northern and southern Han Chinese.Another study shows that the northern and southern Han Chinese are genetically closest to each other and it finds that the genetic characteristics of present-day northern Han Chinese was already formed as early as three-thousand years ago in the Central Plain area.
A recent genetic study on the remains of people from the Mogou site in the Gansu-Qinghai 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 3300–3800 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 and ~70% maternal haplogroups. The mixture rate was possibly 13-18%.
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 the primary contributors to the gene pool of the southern Han. However, it is noteworthy that the expansion process was dominated by males, as is shown by a greater contribution to the Y-chromosome than the mtDNA from northern Han to southern Han. 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. 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, meaning that in many cases, blood of ethnic minorities had mixed into Han, while at the same time, the blood of Han had also mixed into the local ethnic minorities. A study on Armenian admixture in varied populations found 3.9% Armenian-like DNA in some northern Chinese Han.
A recent, and to date the most extensive, genome-wide association study of the Han population, shows that geographic-genetic stratification from north to south has occurred and centrally placed populations act as the conduit for outlying ones. Ultimately, with the exception in some ethnolinguistic branches of the Han Chinese, such as Pinghua, there is "coherent genetic structure" in all Han Chinese.
While Northern Vietnam Kinh people assimilated Han Chinese immigrants into their population, have a sinicized culture and carry the patrilineal Han Chinese O-M7 haplogroup, Cham people carry the patrilineal R-M17 haplogroup of South Asian Indian origin from South Asian merchants spreading Hinduism to Champa and marrying Cham females since Chams have no matrilineal South Asian mtdna and this fits with the matrilocal structure of Cham families. Analysis of Vietnamese Kinh people's genetics show that within the last 800 years there was mixture between a Malay like southern Asian and a Chinese ancestral component that happens to fit the time period in which Kinh expanded south from their Red river delta homeland in Nam tiến which also matches the event 700 years ago when the Cham population suffered massive losses. Japanese and Middle Eastern merchants as well as other foreigners have travelled to the coast of Vietnam for more than 2,000 years and left genetic traces among Vietnamese due to its location on the Silk Roads and commercial paths. Vietnamese ethnicities descend from groups that migrated to SEA islands and the SEA mainland from the region in China south of the river Yangtze. With the exception of Cham who are Austronesian speaking and Mang who are Austroasiatic speaking, the southern Han Chinese and all other ethnic groups in Vietnam share ancestry.
Paternal lineages
Y-chromosome haplogroup O2-M122 is a common DNA marker in Han Chinese, as it appeared in China in prehistoric times. It is found in more than 50% of Chinese males, and ranging up to over 80% in certain regional subgroups of the Han ethnicity. Other Y-DNA haplogroups that have been found with notable frequency in samples of Han Chinese include O-P203, C-M217, N-M231, O-M268, and Q-M242. However, the mitochondrial DNA of Han Chinese increases in diversity as one looks from northern to southern China, which suggests that male migrants from northern China married with women from local peoples after arriving in modern-day Guangdong, Fujian, and other regions of southern China. Despite this, tests comparing the genetic profiles of northern Han, southern Han and southern natives determined that haplogroups O1b-M110, O2a1-M88 and O3d-M7, which are prevalent in southern natives, were only observed in some southern Han, but not in northern Han. Therefore, this proves that the male contribution of southern natives in southern Han is limited, assuming that the frequency distribution of Y lineages in southern natives represents that before the expansion of Han culture that started two-thousand years ago. In contrast, there are consistent strong genetic similarities in the Y chromosome haplogroup distribution between the southern and northern Chinese population, and the result of principal component analysis indicates almost all Han populations form a tight cluster in their Y chromosome. However, other research has also shown that the paternal lineages Y-DNA O-M119, O-P201, O-P203 and O-M95 are found in both southern Han Chinese and South Chinese minorities, but more commonly in the latter. In fact, these paternal markers are in turn less frequent in northern Han Chinese.Maternal lineages
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. These haplogroups account for 52.7% and 33.85% of those in the Northern Han, respectively. 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 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.Genetic history of Japanese
Jōmon people
Jōmon people is the generic name of people who lived in the Japanese archipelago during the Jōmon period. Today most Japanese historians believe that the Jomon people were not one homogeneous people but were at least two or three distinct groups.Proposed origin
The origin of the Jōmon people and their ancestors is disputed. Several theories suggested Southeast Asia or Northeast Asia as possible place of origin. Another theory supported an origin in East Asia itself. Newest genetic studies conclude that the Jōmon are the last descendants of a unique group of ancient people. The study suggests an origin in modern Central Asia.Another study by Hideaki Kanzawa showed that the Jōmon people of Hokkaido and Honshu have a genome that is commonly found in Arctic populations but is rare in Yamato people. The study further suggests that the Jōmon drank alcohol and had wet earwax that is more common in western Eurasians.
According to :ja:崎谷満|Mitsuru Sakitani the Jōmon people are an admixture of two distinct ethnic groups: A more ancient group that were present since more than 30,000 years in Japan and a more recent group that migrated to Japan about 13,000 years ago.
Haplogroup D1 arrived from Central Asia to northern Kyushu via the Altai Mountains and the Korean Peninsula more than 40,000 years before present, and Haplogroup D-M55 was born in Japanese archipelago. D-M55 is distinct from other D-branches since more than 53,000 years and has five unique mutations not found the others. C1a1's ancestral type reached Japan over the Korean Peninsula via the Altai Mountains from Western Asia. Although its age of arrival is unknown, the spread of the existing subgroup is about 12,000 years ago, which is almost consistent with the start of the Jōmon period. The next relative C1a2 was common in ancient European and West Asian samples and is still found in small numbers of modern Europeans, Armenians, Algerians, and Nepalis.
Paternal lineages
Recent Y chromosome haplotype testing has led to the hypothesis that male haplogroups D-M55 and C1a1, which have been found in different percentages of samples of modern Japanese, Ryukyuan, and Ainu populations, may reflect patrilineal descent from members of pre-Jōmon and Jōmon period of the Japanese Archipelago.Haplogroup D-M55 is found in about 36% and haplogroup C1a1 in about 5% of modern Japanese people. C1a1 has its highest amount in Tokushima Prefecture at about 10%, followed by Okinawa Prefecture, Aomori Prefecture, and Tokyo at about 7-8%. In addition, it is assumed that the haplogroup C2 existed in a small amount of Jōmon people.
Recently it was confirmed that the Japanese branch of haplogroup D-M55 is distinct and isolated from other D-branches since more than 53,000 years. The split between D1a happened likely in Central Asia, while some others suggest an instant split during the origin of haplogroup D itself, as the Japanese branch has five unique mutations not found in any other D-branch.
A recent DNA study in 2019 suggests that haplogroup D-M55 was carried by about 70% and haplogroup C by about 30% of the ancient Jōmon people. A specific Japanese-Jōmon clade is only found in ancient Jōmon and some modern Japanese. No other population was found to carry this specific clade, which support the distinct position of the Jōmon population.
Maternal lineages
of Jōmon people is characterized by the presence of haplogroups :ja:ハプログループM7a |M7a and :ja:ハプログループN9 |N9b.M7a is estimated to share a most recent common ancestor with M7b'c, a clade whose members are found mainly in Japan, other parts of East Asia, and Southeast Asia, 33,500 years before present. All extant members of haplogroup M7a are estimated to share a most recent common ancestor 20,500 years before present. Haplogroup M7a now has its highest frequency in Okinawa.
Haplogroup N9b is estimated to share a most recent common ancestor with N9a and Y, two clades that are widespread in eastern Asia, 37,700 years before present. All extant members of haplogroup N9b are estimated to share a most recent common ancestor 21,100 years before present. Haplogroup N9b now has its highest frequency among Tungusic peoples in southeastern Siberia, but it has been found to be very common in skeletal remains of Jōmon people of northern Japan.
In addition, haplogroups D4, D5, M7b, M8, M9a, M10, G, A, B, and F have been found in Jōmon people as well. These latter haplogroups are all distributed widely among populations of East Asia and Southeast Asia, but some of their subclades are distributed almost exclusively in Japan.
Analysis of the mitochondrial DNA of Jōmon skeletons from Hokkaido, Okinawa Island and Tōhoku region indicates that haplogroups N9b and M7a may reflect maternal Jōmon contribution to the modern Japanese mtDNA pool. In another study of ancient DNA published by the same authors in 2011, both the control and coding regions of mitochondrial DNA recovered from Jōmon skeletons excavated from the northernmost island of Japan, Hokkaido, were analyzed in detail, and 54 mtDNA samples were confidently assigned to relevant haplogroups. Haplogroups N9b, D4h2, G1b, and M7a were observed in these individuals. According to 2013 study, there was mtDNA sub-haplogroups inter-regional heterogeneity within the Jōmon people, specifically between studied Kantō, Hokkaido and Tōhoku Jōmon. According to 2011 study all major East Asian mtDNA lineages expanded before 10,000 YBP, except for two Japanese lineages D4b2b1 and M7a1a which population expanded around 7,000 YBP unequivocally during the Jōmon Period, thousands of years before intensive agriculture which imply that the growth of population and depletion of food resources was the reason for population expansion and not agriculture.
A study about maternal DNA of Jōmon individuals resulted in similarities between Jomon people and ancient Siberian people. Interestingly, the study also suggests a relation of some Jomon people to at least some Native American groups.
Autosomal DNA
A 2017 study on ancient Jomon aDNA from Sanganji shell mound in Tōhoku region estimates that the modern mainland Japanese population probably inherited less than ~20% of Jōmon peoples' genomes.The first full genomic DNA analysis of Jōmon individuals by Hideaki Kanzawa-Kiriyama of the department of genetics in the University for Advanced Studies showed that the Jōmon people are not closely related to any modern ethnic group. His analysis groups the Jōmon people into a unique genetic cluster far away from any modern ethnic groups. Hideaki says that some Jōmon DNA is found in modern ethnic groups, such as Japanese people, Udege people, Nivkh people, Ainu people and Ryukyuan people. From all ethnic groups, the Ainu and Ryukyuans show the closest relation to ancient Jōmon people. Compared with populations worldwide, the Jomon are relatively close to modern Ryukyuans, Ainu and Yamato Japanese.
A DNA-based reconstruction of a 3,800-year old Jomon woman of Rebun Island in Hokkaido showed that she had slightly darker skin than modern Japanese people but a lighter eye colour. She also had freckles and thin brown hair.
A full genome analysis, using high-confidence SNPs and functional SNP assessments to assign possible phenotypic characteristics as well as Y-chromosome polymorphisms, analysed a male and a female Jomon sample. The study results suggest that the Jōmon are their own distinct population and not closely related to other populations. The Funadomari Jōmon are not related to Australo-Melanesians or Africans. The Jōmon are closer to Eurasian populations and form a cluster near the “Basal East Asians”.
Modern Japanese share about 9% to 13% of their genome with the Jōmon. Jōmon specific genome is also found in minor percentage in populations of Northeast Asia and Southeast Asia, suggesting gene-flow from Jōmon related groups. Additionally, the Jōmon share specific gene alleles with populations in the Arctic regions of Eurasia and northern America.
Tests using phylogenetic relationship suggests that the Funadomari Jōmon have about 86% East Asian related ancestry and about 14% West Asian/European related ancestry. According to the scientists, more data is needed to explain these results.
Yayoi people
The Yayoi people were migrants to the Japanese archipelago from Asia during the Yayoi period and Kofun period. They are seen as direct ancestors of the modern Yamato people, the majority of Japanese and of the Ryukyuan people. It is estimated that modern Japanese share in average about 90% of their genome with the Yayoi.Paternal lineages
It is estimated that Yayoi people mainly belonged to Haplogroup O-M176 , Haplogroup O-M122, Haplogroup O-K18, and Haplogroup O-M119, which are typical for East and Southeast Asians. :ja:崎谷満|Mitsuru Sakitani suggests that haplogroup O1b2, which is common in today's Japanese, Koreans, and some Manchu, and O1a are one of the carriers of Yangtze civilization. As the Yangtze civilization declined several tribes crossed westward and northerly, to the Shandong peninsula, the Korean Peninsula and the Japanese archipelago. One study calls haplogroup O1b1 as a major Austroasiatic paternal lineage and the haplogroup O1b2 as a "para-Austroasiatic" paternal lineage.Maternal lineages
A recent study confirms that modern Japanese are predominantly descendants of the Yayoi. The mitochondrial chromosomes of modern Japanese are nearly identical with the Yayoi and differ significantly from the Jomon population.Modern Japanese
Paternal lineages
The main paternal haplogroups of modern Yamato Japanese are Haplogroup D-M55, Haplogroup O-M176 , Haplogroup O-M122 , Haplogroup C-M217, and Haplogroup C-M8. Haplogroups N-M231, O-M119, O-K18, and Q-M242 also have been observed with low frequency among present-day Japanese.A comprehensive study of worldwide Y-DNA diversity included a sample of 23 males from Japan, of whom eight belonged to haplogroup D-M174, six belonged to O-M175, five belonged to O-M122, three belonged to C-M8 and C-M130, and one belonged to N-M128.
Among 259 males from Japan whose Y-DNA has been examined in a 2005 study by Michael F. Hammer, ninety belong to haplogroup D-M55, eighty-two belong to haplogroup O-P31, and 1.9% O-M95), fifty-two belong to haplogroup O-M122, fourteen belong to haplogroup C-M8, ten belong to haplogroup NO-M214, 1.2% haplogroup N-LLY22g, and eight belong to haplogroup C-M217.
The patrilines belonging to D-P37.1 were found in all the Japanese samples, but were more frequently found in the Ainu and Okinawa samples and less frequently found in the Tokushima and Kyūshū samples. Haplogroups O-M175 and C-M8 were not found in the small Ainu sample of four individuals, and C-M217 was not found in the Okinawa sample of 45 individuals. Haplogroup N was detected in samples of Japanese from Aomori, Shizuoka, and Tokushima, but was not found in the Kyūshū, Okinawa, or Ainu samples. This study, and others, report that Y-chromosome patrilines crossed from the Asian mainland into the Japanese archipelago, and continue to make up a large proportion of the Japanese male lineage. If focusing haplogroup O-P31 in those researches, the patrilines derived from its subclade O-SRY465 are frequently found in both Japanese and Koreans. According to the research, these patrilines have undergone extensive genetic admixture with the Jōmon period populations previously established in Japan.
A 2007 study by Nonaka et al. reported that among a total of 263 healthy unrelated Japanese male individuals born in 40 of the 47 prefectures of Japan, but especially Tokyo, Chiba, Kanagawa, Saitama, Shizuoka, and Nagano, the frequencies of the D2, O2b, and O3 lineages were 38.8%, 33.5%, and 16.7%, respectively, which constituted approximately 90% of the Japanese population. Haplogroup diversity for the binary polymorphisms was calculated to be 86.3%.
Poznik et al. have reported that the males in the JPT sample of the 1000 Genomes Project are 20/56 = 36% D2-M179, 18/56 = 32% O2b-M176, 10/56 = 18% O3-M122, 4/56 = 7.1% C1a1-M8, 2/56 = 3.6% O2a-K18, and 2/56 = 3.6% C2-M217.
In a project approved by the Ethics Committee of Tokai University School of Medicine, Ochiai et al. have reported finding D-M174 in 24/59, O-M268 in 21/59, C-M130 in 8/59, O-P198 in 4/59, N-M231 in 1/59, and O-P186 in 1/59 of a sample obtained through buccal swabs from Japanese male volunteers who had given informed consent to participate in the study.
Maternal lineages
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, B, M7, G, N9, F, A, Z, M9, and M8.Single-nucleotide polymorphism
A 2011 SNP consortium study done by the Chinese Academy of Sciences and Max Planck Society consisting of 1719 DNA samples determined that Koreans and Japanese clustered near to each other, confirming the findings of an earlier study that Koreans and Japanese are related. However, the Japanese were found to be genetically closer to South Asian populations as evident by a genetic position that is significantly closer towards South Asian populations on the principal component analysis chart. Some Japanese individuals are also genetically closer to Southeast Asian and Melanesian populations when compared to other East Asians such as Koreans and Han Chinese, indicating possible genetic interactions between Japanese and these populations.A 2008 study about genome-wide SNPs of East Asians by Chao Tian et al. reported that Japanese along with other East Asians such as Joseon Koreans and Han Chinese are genetically distinguishable from Southeast Asians and that the Japanese are related to Koreans, who in turn are more closely related to Han Chinese. However, the Japanese are relatively genetically distant from Han Chinese, compared to Koreans. Another study shows a relative strong relation between all East and Southeast Asians.
Immunoglobulin G
Hideo Matsumoto, professor emeritus at Osaka Medical College tested Gm types, genetic markers of immunoglobulin G, of Japanese populations for a 2009 study. According to this study, the Gm ab3st gene is found at notably high frequencies across eastern Siberia, northern China, Korea, Mongolia, Japan, and Tibet. The mean frequency of Gm ab3st for the mainstream Japanese population was found to be 26.0%, with a peak in the Yaeyama Islands among all populations in Japan and peaks in Akita and Shizunai among mainstream Japanese. On mainland Asia, peak frequencies of Gm ab3st were found among Oroqen and Tungus in northeast China and among the north Baikal Buryats ; however, this gene is also frequent among Eskimos, Luoravetlans, and Athabaskans, and it is not uncommon even as far west as the south shore of the Caspian Sea. Minimum frequencies of Gm ab3st were found in Yakushima among all populations in Japan and in Tsu and Ōita among mainstream Japanese. The data from small, isolated island populations, such as those of Yonaguni, Ishigaki, and Yakushima, were not used when calculating the mean for the mainstream Japanese population. The study also considered Ainu and Korean populations and found Gm ab3st with a frequency of 25.2% among Ainu in Hidaka, Hokkaido and a mean frequency of 14.5% among Koreans.Gm afb1b3, on the other hand, is a southern marker gene possibly originating in southern China on the background of the fb1b3 gene and found at very high frequencies across southern China, Southeast Asia, Taiwan, Sri Lanka, Bangladesh, Nepal, Assam, and the Pacific Islands. Professor Matsumoto has remarked that the center of dispersal of the Gm afb1b3 gene may be in the Yunnan and Guangxi area of southern China; extremely high frequencies of this gene have been observed in samples of mostly Daic peoples from this region and from neighboring Laos and Thailand. However, Gm afb1b3 is almost equally common among people in Malaysia, Indonesia, the Philippines, Karen people in Thailand, Kacharis in Assam, Cambodians, Taiwanese aborigines, Micronesians, Melanesians, and Polynesians. The study found that the mean frequency of Gm afb1b3 was 10.6% for the general Japanese population. Minimum frequencies of Gm afb1b3 were found among the native people in the Yaeyama and Miyako islands in the extreme south of Japan and among the Ainu in the extreme north of Japan. The author suggested that the somewhat elevated frequency of the Gm afb1b3 gene among the mainstream Japanese compared to the Sakishima islanders and the Ainu may have resulted from some admixture of the mainstream Japanese population at rates as low as 7–8% with southern Asian populations having the Gm afb1b3 gene in high frequency.
The other Gm types observed among Japanese are ag and axg, which are not so useful for discerning human migrations and genetic relationships because they appear to be retained from a common ancestor of most modern humans and are found in similar proportions in many populations all over the world.
Genetic components compared with other Asian populations
A 2017 study conducted by Fumihiko Takeuchi, Tomohiro Katsuya, Ryosuke Kimura and Norihiro Kato compared three genetically distinct Japanese groups, Hondu, Ryukyu and Ainu to 26 other Asian populations to analyze the shared ancestry and genetic differentiation between the Japanese people and other Asians. The study revealed for the Japanese as a whole, some genetic components from all of the Central, East, Southeast and South Asian populations are prevalent in the Japanese population with the major components of ancestry profile coming from the Korean and Han Chinese clusters. The major components of the Japanese Hondo cluster is similar to the Korean, followed by Han Chinese 1 clusters. The genetic components from the Southeast Asian and South Asian clusters were larger for the Ryukyu cluster – Southeast Asian and South Asian – in comparison to the results found in the Hondo cluster – Southeast Asian and South Asian.Yayoi Origins of the Modern Japanese
A recent study shows that the Japanese are predominantly descendants of the Yayoi people and are closely related to other modern East Asians, especially Koreans and Han Chinese. It is estimated that the majority of Japanese only has about 12% Jōmon ancestry or even less.Recent studies suggest that the Japanese people are predominantly descendants of the Yayoi people, and that the Yayoi largely displaced the local Jōmon.
A genome research shows that modern Japanese do not have much Jōmon ancestry at all. Nuclear genome analysis of Jōmon samples and modern Japanese samples show strong differences.
Genetic history of Koreans
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. The reference population for Koreans used in Geno 2.0 Next Generation is 94% Eastern Asia and 5% Southeast Asia & Oceania.Several studies confirmed that Koreans are basically a Northeast Asia
Paternal lineages
Jin Han-jun et al. said that the distribution of Y-chromosomal haplogroups shows that Koreans have a complex origin that results from genetic contributions from range expansions, most of which are from southern-to-northern China, and genetic contributions from the northern Asian settlement.Korean males display a high frequency of Haplogroup O-M176, a subclade that probably has spread mainly from somewhere in the Korean Peninsula or its vicinity, and Haplogroup O-M122, a common Y-DNA haplogroup among East and Southeast Asians in general. Haplogroup O1b2-M176 has been found in approximately 30% of sampled Korean males, while haplogroup O2-M122 has been found in approximately 40% of sampled Korean males. Korean males also exhibit a moderate frequency of Haplogroup C-M217.
About 2% of Korean males belong to Haplogroup D-M174, 8/506 = 1.6% D1b-M55, 3/154 = 1.9% DE, 18/706 = 2.55% D-M174, 5/164 = 3.0% D-M174 1/75 D1b*-P37.1 + 2/75 D1b1a-M125. The D1b-M55 subclade has been found with maximal frequency in a small sample of the Ainu people of Japan, and is generally frequent throughout the Japanese Archipelago. Other haplogroups that have been found less commonly in samples of Korean males are Y-DNA haplogroup N-M231, haplogroup O-M119, haplogroup O-M268, haplogroup Q-M242 and Haplogroup R1, J, Y*, L, C-RPS4Y, and C-M105.
Korea Foundation Associate Professor of History, Eugene Y. Park, said that there is no correlation between a Korean person's Y-chromosome DNA haplogroup and their surname or ancestral seat.
He Miao et al. created an artificial combination of equal parts of the Y-chromsomes of the HapMap samples of Han Chinese in Beijing and Japanese in Tokyo. The study said that this artificial combination resembled five populations which included Koreans in South Korea and Koreans in China.
Maternal lineages
Studies of Korean mitochondrial DNA lineages have shown that there is a high frequency of Haplogroup D4, ranging from approximately 23% among ethnic Koreans in Arun Banner, Inner Mongolia to approximately 32% among Koreans from South Korea. Haplogroup D4 is the modal mtDNA haplogroup among northern East Asians in general, with a peak frequency among Japanese and Ryukyuans in Japan. Haplogroup B, which occurs very frequently in many populations of Southeast Asia, Polynesia, and the Americas, is found in approximately 10% to 20% of Koreans. Haplogroup A has been detected in approximately 7% to 15% of Koreans. Haplogroup A is the most common mtDNA haplogroup among the Chukchi, Eskimo, Na-Dene, and many Amerind ethnic groups of North and Central America.The other half of the Korean mtDNA pool consists of an assortment of various haplogroups, each found with relatively low frequency, such as G, N9, Y, F, D5, M7, M8, M9, M10, M11, R11, C, and Z.
A study of the mtDNA of 708 Koreans sampled from six regions of South Korea found that they belonged to haplogroup D, 7.8% D4a, 6.5% D5, 6.4% D4b, and 0.14% D), haplogroup B, haplogroup A, haplogroup M7, haplogroup F, haplogroup M8'CZ, haplogroup G, haplogroup N9a, haplogroup Y, haplogroup M9, haplogroup M10, haplogroup M11, haplogroup N, and haplogroup N9.
A study of 1094 individuals in the Korean Genome Project found that they belonged to haplogroup D, haplogroup B, haplogroup M, haplogroup A, haplogroup G, haplogroup F, haplogroup N, haplogroup C, haplogroup R, haplogroup Y, and haplogroup Z. The individuals sampled for the Korean Genome Project are mostly from the Ulsan metropolitan region.
Autosomal DNA
Jin Han-jun et al. said that, based on genetic studies of classic genetic markers of protein and nuclear DNA, Koreans tend to be closely genetically related to Mongols among East Asians, which is supported by the following studies: Goedde et al. ; Saha & Tay ; Hong et al. ; and Nei & Roychoudhury. The study said that the mtDNA 9‐bp deletion frequency in the COII/tRNALys region of Mongols is lower than that of Chinese, Japanese and Koreans. The study said that these 9‐bp deletion frequencies suggest that Koreans are closely related to Japanese and Chinese and that Koreans are not so closely related to Mongols. The study said that the homogeneity in the 9-bp deletion frequencies among Chinese, Japanese and Koreans, only spanning from a low of 14.2% for Chinese to a high of 15.5% for Koreans, indicates that very few mtDNA are differentiated in these three populations. The study said that the 9‐bp deletion frequencies for Vietnamese and Indonesians, which are the two populations constituting Mongoloid Southeast Asians in the study, are relatively high frequencies when compared to the 9-bp deletion frequencies for Mongols, Chinese, Japanese and Koreans, which are the four populations constituting Northeast Asians in the study. The study said that these 9-bp deletion frequencies are consistent with earlier surveys which showed that 9-bp deletion frequencies increase going from Japan to mainland Asia to the Malay Peninsula, which is supported by the following studies: Horai et al. ; Hertzberg et al. ; Stoneking & Wilson ; Horai ; Ballinger et al. ; Hanihara et al. ; and Chen et al.. The study said that Cavalli-Sforza's chord genetic distance, from Cavalli-Sforza & Bodmer, which is based on the allele frequencies of the intergenic COII/tRNALys region, showed that Koreans are more genetically related to Japanese than Koreans are genetically related to the other East Asian populations which were surveyed. The Cavalli-Sforza's chord genetic distance between Koreans and other East Asian populations in the study, from least to greatest, are as follows: Korean to Japanese, Korean to Chinese, Korean to Vietnamese, Korean to Indonesian and Korean to Mongols. The study said that the close genetic affinity between present-day Koreans and Japanese is expected due to the Yayoi migration from China and the Korean Peninsula to Japan which began about 2,300 years ago, a migration which is supported by the following studies: Chard ; Hanihara ; Hammer & Horai ; Horai et al. ; Omoto & Saitou. The study said that Horai et al. detected mtDNA D-loop variation which supports the idea that a large amount of maternal lineages came into Japan from immigrants from the Korean Peninsula after the Yayoi period.Wook et al. said that Chu et al. found that phylogeny which was based on 30 microsatellites indicated that Korean people were closely related to Chinese people from Manchuria and Yunnan, but Kim Wook et al. found that the high incidence of the DXYS156Y-null variant in northeast Chinese implied that it is possible to exclude these northeastern Chinese populations from being sources which are significant in Korean people. The phylogenetic analysis done by Wook et al. indicated that Japanese people are genetically closer to Korean people than Japanese people are genetically related to any of the following peoples: Mongolians, Chinese, Vietnamese, Indonesians, Filipinos and Thais. The study said that mainland Japanese having Koreans as their closest genetic population is consistent with the following previous studies: Hammer and Horai ; Horai et al. ; and Kim et al.. The study found that Koreans are more genetically homogenous than the Japanese, and the study said that this might be due to different sizes of the founding populations and range expansions. The study said that the moderate mean Y-chromosome haplotype diversity value for Koreans might be the result of migrations from East Asia that had a homogenizing influence. The study said that it is more probable that Koreans descend from dual infusions of Y-chromosomes from two different waves of East Asians rather than a single East Asian population due to the dual patterns of the Y-chromosome haplotype distribution found in Koreans.
Kim Jong-jin et al. did a study about the genetic relationships among East Asians based on allele frequencies, particularly focusing on how close Chinese, Japanese and Koreans are genetically related to each other. Most Koreans were hard to distinguish from Japanese, and the study was not able to clearly distinguish Koreans and Japanese. Koreans and Japanese clustered together in the principal component analysis and the best least-squares tree. The study said that "ommon ancestry and/or extensive gene flow" historically between Koreans and Japanese appears to be "likely" and results in a lot of difficulty finding population-specific alleles that could assist in differentiating Koreans and Japanese.
Jung Jongsun et al. used the following Korean samples for a study: Southeast Korean, Middle West Korean and Southwest Korean. Due to political reasons, the study said that it did not use North Korean samples, but the study said that the "historical migration event of Baekje from Goguryeo Empire in Northern Korea imply that Northern lineages remain in South Korea." The study said that the "Northern people of the Goguryeo Empire" are closely related to Mongolians, and the study said that this group of people ruled most of Southwest Korea. The study said that "some of the royal families and their subjects in the Goguryeo Empire moved to this region and formed the Baekje Empire in BC 18–22." Southwest Koreans are closer to Mongolians in the study's genome map than the other two Korean regions in the study are close to Mongolians. Southwest Koreans also display genetic connections with the HapMap sample of Japanese in Tokyo, and, in the neighbor joining tree, the nodes for Southwest Korea are close to Japan. In the study's Korea-China-Japan genome map, some Southwest Korean samples overlap with samples from Japan. The study said that the fairly close relationship, in both the study's genetic structure analysis and genome map, of the Jeju Southwest Korean sample and the HapMap sample of Japanese in Tokyo, Japan, has made the evolutionary relationship of Chinese, Japanese and Koreans become clearer. Southeast Koreans display some genetic similarity with people of Kobe, Japan, which indicates that there might have been links between these regions. The study said that it is possible that outliers in the Gyeongju sample, one of the sampled Southeast Korean regions, and outliers in the Kobe, Japan, sample both have Siberian lineage due to Southeast Koreans having connections with Siberian lineages with respect to grave patterns and culture. The overall result for the study's Korea-Japan-China genome map indicates that some signals for Siberia remain in Southeast Korea. In contrast to the Gyeongju sample, the Goryeong and Ulsan samples, which are both Southeast Korean samples, displayed average signals for the Korean Peninsula. The study said that Middle West Korea was a melting pot in the Korean Peninsula with people traveling from North to South, South to North, and people traveling from East China, including from the Shandong Peninsula. Western Chinese, which included those in the Shandong Peninsula, travelled across the Yellow Sea, and these Western Chinese lived and traded in both China and Korea. In the study's genome map, Middle West Koreans are close to the HapMap sample of Han Chinese in Beijing and, in the neighbor joining tree, the nodes for Middle West Korea are close to China. The overall result for the study's Korea-Japan-China genome map indicates that Middle West Korea displays an average signal for South Korea. Chinese people are located between Korean and Vietnamese people in the study's genome map.
Kim Young-jin and Jin Han-jun said that principal component analysis had Korean HapMap samples clustering with neighboring East Asian populations which were geographically nearby them such as the Chinese and Japanese. The study said that Koreans are genetically closely related to Japanese in comparison to Koreans' genetic relatedness to other East Asians which included the following East and Southeast Asian peoples: Tujia, Miao, Daur, She, Mongols, Naxi, Cambodians, Oroqen, Yakuts, Yi, Southern Han Chinese, Northern Han Chinese, Hezhen, Xibo, Lahu, Dai and Tu. The study said that the close genetic relatedness of Koreans to Japanese has been reported in the following previous studies: Kivisild et al. ; Jin et al. ; Jin et al. ; and Underhill and Kivisild. The study said that Jung et al. said that there is a genetic substructure in Koreans, but the study said that it found Korean HapMap individuals to be highly genetically similar. The study said that Jin et al. found that Koreans from different populations are not different in a significant way which indicates that Koreans are genetically homogenous. The study said that the affinity of Koreans is predominately Southeast Asian with an estimated admixture of 79% Southeast Asian and 21% Northeast Asian for Koreans, but the study said that this does not mean that Koreans are heterogenous, because all of the Koreans which were analyzed uniformly displayed a dual pattern of Northeast Asian and Southeast Asian origins. The study said that Koreans and Japanese displayed no observable difference between each other in their proportion of Southeast Asian and Northeast Asian admixture. The study said the 79% Southeast Asian and 21% Northeast Asian admixture estimate for Koreans is consistent with the interpretation of Jin et al. that Koreans descend from a Northeast Asian population which was subsequently followed by a male-centric migration from the southern region of Asia which changed both the autosomal composition and Y-chromosomes in the Korean population.
Veronika Siska et al. said that the Ulchi people are genetically closest in the study's panel to the human remains from the Devil's Gate Cave which are dated to about 7,700 years ago. Modern Korean and Japanese, the Oroqen people and the Hezhen people display a high affinity to the human remains from Devil's Gate Cave. Considering the geographic distance of Amerindians from Devil's Gate Cave, Amerindians are unusually genetically close to the human remains from Devil's Gate Cave. Korean genomes display similar traits to Japanese genomes on genome-wide SNP data. In an admixture analysis, when the genes of Devil's Gate is made into a unique genetic component, this new Devil's Gate genetic component is highest in peoples of the Amur Basin, including Ulchi, and makes up about more than 50% of Koreans and Japanese. It also has a sporadic distribution among other East Asians, Central Asians and Southeast Asians.
Immunoglobulin G
Hideo Matsumoto, professor emeritus at Osaka Medical College, tested Gm types, genetic markers of immunoglobulin G, of Korean populations for a 2009 study. The Korean populations were populations in Jeju Island, Busan, Gwangju, Kongsan, Jeonju, Wonju, the Kannung of South Korea and a Korean population in Yanji. Matsumoto said that the Gm ab3st gene is a marker for northern Mongoloid possibly originating in Siberia and found at high frequencies across northeast Asia and Tibet. Matsumoto said that the average frequency of Gm ab3st for Koreans was 14.5% which was intermediate between an average frequency of 26% for general Japanese and a frequency of 11.7% which was for a Han Chinese population in Beijing. Matsumoto said that Gm afb1b3 is a southern marker gene possibly originating in southern China and found at high frequencies across Southeast Asia, southern China, Taiwan, Sri Lanka, Bangladesh, Nepal, Assam and parts of the Pacific. However, given the result that the Okinawans being genetically most northern among the Japanese with the highest frequency of the Gm ab3st gene which is assigned to be northern, the term northern and southern used in his study is controversial. Matsumoto said that the average frequency of Gm afb1b3 for Koreans was 14.7% which was intermediate between a frequency of 10.6% for general Japanese and a frequency of 24.1% for Beijing Han Chinese. Matsumoto said that Koreans displayed the northern Mongoloid pattern, but Matsumoto said that Koreans displayed a higher frequency of the southern marker gene, Gm afb1b3, than the Japanese. Matsumoto said that "Japanese and Korean populations were originally identical or extremely close to each other", and Matsumoto said, "It seemed to be during the formation of the contemporary Korean population that such a Gm pattern intermediate between Japanese and the northern Han in China emerged." Matsumoto said that the different Gm pattern between Japanese and Koreans most likely came about from frequent inflows of Chinese and/or northern populations into the Korean Peninsula.Genetic history of Mongolians
The Mongols are an ethnic group in northern China, Mongolia, parts of Siberia and Western Asia. They are believed to be the descendants of the Xianbei and the proto-Mongols. The former term includes the Mongols proper, Buryats, Oirats, the Kalmyk people and the Southern Mongols. The latter comprises the Abaga Mongols, Abaganar, Aohans, Baarins, Gorlos Mongols, Jalaids, Jaruud, Khishigten, Khuuchid, Muumyangan and Onnigud. The Daur people are descendants of the para-Mongolic Khitan people. Mongolians are also related to the Manchurians.Paternal lineages
The majority of Mongolians belong to the y-DNA Haplogroup C-M217. Haplogroup C-M217 among the Mongols is characterized by very deep total diversity that dates back to the very origin of haplogroup C-M217 and very shallow diversity in each of the frequently observed subclades: C-M504, C-M86, C-M407, and C-F1756. Of these four subclades, C-M407 is phylogenetically extremely divergent from the others, and is more closely related to subclades of C-M217 that are found among present-day Chinese, Koreans, Japanese, and other East and Southeast Asians; however, among Mongols, C-M407 is found most frequently toward the north and west, among western Buryats and Dorbet Kalmyks.Haplogroup O-M175 and Haplogroup N-M231 are found at medium rates among present-day Mongols. The subclades of Haplogroup O-M175 that have been observed among Mongols tend to be similar to those found among Han Chinese, whereas the subclades of Haplogroup N-M231 that have been observed among Mongols tend to be similar to those found among Nenets, Nganasans, Khakasses, and Tuvans on the one hand or those found among Chukchi, Koryaks, and Asian Eskimos on the other. In addition, some members of a wide variety of other Y-DNA haplogroups have been found among present-day Mongols, including Haplogroup Q-M242, Haplogroup R-M207, Haplogroup D-M174, Haplogroup J2a-M410, Haplogroup J1-Page8, Haplogroup G1-M285, and Haplogroup I2a2-M436.
Maternal lineages
The maternal haplogroups are diverse but similar to other northern Asian populations. The most common maternal haplogroups in Mongolians are haplogroup D4, Haplogroup A, and Haplogroup B.West Eurasian mtDNA haplogroups Haplogroup HV, Haplogroup U, Haplogroup K, Haplogroup I, Haplogroup J, represents 14% in western Xingjang Mongolian, 10% in Mongolia, 8.4% in central Inner Mongolian samples, 2% in eastern Xin Barage Zuoqi County samples.
Genetic history of Tibetans
Modern Tibetan populations are genetically most similar to other modern East Asian populations. They also show more genetic affinity for modern Central Asian than modern Siberian populations.A 2016 study found that the Tibetan gene pool diverged from that of Han Chinese around 15,000 to 9,000 years ago, which can be largely attributed to post-LGM arrivals. Analysis of around 200 contemporary populations showed that Tibetans share ancestry with populations from East Asia, Central Asia and Siberia, South Asia, and western Eurasia and Oceania. These results support that Tibetans arose from a mixture of multiple ancestral gene pools but that their origins are much more complicated and ancient than previously suspected.
Relationship to other populations
A study in 2010 suggested that the majority of the Tibetan gene pool may have diverged from the Zang around 15,000 years ago. However, there are possibilities of much earlier human inhabitation of Tibet, and these early residents may have contributed to the modern Tibetan gene pool.The date of divergence between Tibetans and Sherpas was estimated to have taken place around 11,000 to 7,000 years ago.
Relationship to archaic hominins
After modern Oceanic populations, modern Tibetan populations show the highest rate of allele sharing with archaic hominins at over 6%. Modern Tibetans show genetic affinities to three archaic populations: Denisovans, Neanderthals, and an unidentified archaic population.In comparison to modern Han populations, modern Tibetans show greater genetic affinity to Denisovans; however, both the Han and Tibetans have similar ratios of genetic affinity to general Neanderthal populations.
Modern Tibetans were identified as the modern population that has the most alleles in common with Ust'-Ishim man.
Paternal lineage
The distribution of Haplogroup D-M174 is found among nearly all the populations of Central Asia and Northeast Asia south of the Russian border, although generally at a low frequency of 2% or less. A dramatic spike in the frequency of D-M174 occurs as one approaches the Tibetan Plateau. D-M174 is also found at high frequencies among Japanese people, but it fades into low frequencies in Korea and China proper between Japan and Tibet. The claim that the Navajo people and Tibetans are related, while discussed among linguists since Edward Sapir, has not found support in genetic studies. Some light has been shed on their origins, however, by one genetic study in which it was indicated that Tibetan Y-chromosomes had multiple origins, one from Central Asia and the other from East Asia.Genetic history of Turks
The Turkic peoples are a collection of ethno-linguistic groups of Central-, Eastern-, Northern- and Western-Asia as well as parts of Europe and North Africa. They speak related languages belonging to the Turkic language family.Proposals for the homeland of the Turkic peoples and their language are far-ranging, from the Transcaspian steppe to Northeastern Asia.
According to Yunusbayev, genetic evidence points to an origin in the region near South Siberia and Mongolia as the "Inner Asian Homeland" of the Turkic ethnicity.
Authors Joo-Yup Lee and Shuntu Kuang analyzed 10 years of genetic research on Turkic people and compiled scholarly information about Turkic origins, and said that the early and medieval Turks were a heterogeneous group and that the Turkification of Eurasia was a result of language diffusion, not a migration of homogeneous population.