Genetic and anthropometric studies on Japanese people

In population genetics, research has been made to study the genetic origins of the modern Japanese people in Japan.

Generally, the skulls of Japanese people are

Origins

A common origin of Japanese has been proposed by a number of scholars since Arai Hakuseki first brought up the theory and Fujii Sadamoto, a pioneer of modern archeology in Japan, also treated the issue in 1781.[1] But after the end of World War II, Kotondo Hasebe and Hisashi Suzuki claimed that the origin of Japanese people was not the newcomers in the Yayoi period (300 BCE – 300 CE) but the people in the Jōmon period.[2] However, Kazuro Hanihara announced a new racial admixture theory in 1984.[2] Hanihara also announced the theory "dual structure model" in English in 1991.[3] According to Hanihara, modern Japanese lineages began with Jōmon people, who moved into the Japanese archipelago during Paleolithic times from their homeland in southeast Asia. Hanihara believed that there was a second wave of immigrants, from northeast Asia to Japan from the Yayoi period. Following a population expansion in Neolithic times, these newcomers then found their way to the Japanese archipelago sometime during the Yayoi period. As a result, miscegenation was common in the island regions of Kyūshū, Shikoku, and Honshū, but did not prevail in the outlying islands of Okinawa and Hokkaidō, and the Ryukyuan and Ainu people continued to dominate there. Mark J. Hudson claimed that the main ethnic image of Japanese people was biologically and linguistically formed from 400 BCE to 1,200 CE.[2] Currently, the most well-regarded theory is that present-day Japanese are descendants of both the indigenous Jōmon people and the immigrant Yayoi people.

On the other hand, research in October 2009 by the National Museum of Nature and Science et al. concluded that the Minatogawa Man, who was found in Okinawa and was regarded as evidence that Jōmon people came to Japan via the southern route, but had a slender and more neo-mongoloid face unlike the northern Jōmon.[4] Hiroto Takamiya of the Sapporo University suggested that the people of Kyushu immigrated to Okinawa between the 10th and 12th centuries CE.[5]

A genetic autosomal research about the Jomon people showed that they are a own uniqe group the East Asian mongoloid cluster and that they had genetic relations to modern Siberian and Native American samples.[6]

A 2011 study by Sean Lee and Toshikazu Hasegawa[7] reported that a common origin of Japonic languages had originated around 2,182 years before present.[8]

A study conducted in 2017 by Ulsan University in Korea presented an evidence that the genetic origin of Koreans is closer to that of southeast Asians.[9] This was additionally supported by Japanese research conducted in 1999 that supported the theory that the origin of the Yayoi people was in southern China near the Yangtze river.[10] This study further supports the already accepted admixture theory between the Jōmon and Yayoi populations.

Glacier cover in Japan at the height of the last glaciation about 20,000 years ago

The origins of the Jōmon and Yayoi people have often been a subject of dispute, and a recent Japanese publisher[11] has divided the potential routes of the people living on the Japanese archipelago as follows:

  • Aboriginals that have been living in Japan for more than 10,000 years. (Without geographic distinction, which means, the group of people living in islands from Hokkaido to Okinawa may all be considered to be Aboriginals in this case.)
  • Immigrants from the northern route (北方ルート in Japanese) including the people from the Korean Peninsula, Mainland China and Sakhalin Island.
  • Immigrants from the southern route (南方ルート in Japanese) including the people from the Pacific Islands, Southeast Asia, and in some context, India.

However, a clear consensus has not been reached.[12][13][14][15][16]

Genetics

Y-chromosome DNA

It has been noted since as early as 1995 that the distribution of Y-chromosome DNA markers among Japanese males differs significantly from the males of neighboring populations: "The Y Alu polymorphic (YAP) element is present in 42% of the Japanese and absent in the Taiwanese, confirming the irregular distribution of this polymorphism in Asia."[17]

In 1999, a study by Tatiana M. Karafet et al. aimed at identifying the nearest Old World relatives of indigenous American Y-DNA lineages included a sample of 118 Japanese, of whom 55 or 47% were found to belong to DE-YAP(xE-SRY4064), 54 or 46% were found to belong to K-M9(xTat, SRY9138, P-DYS257), 6 or 5.1% were found to belong to C-RPS4Y, 2 or 1.7% were found to belong to P-DYS257, and 1 or 0.8% were found to belong to BT-SRY10831.1(xC-RPS4Y, DE-YAP, K-M9).[18]

A comprehensive study of worldwide Y-DNA diversity (Underhill et al. 2000) included a sample of 23 males from Japan, of whom eight (35%) belonged to haplogroup D-M174 (including one D-M15, one D-M55(xM116.2), five D-M125, and one D-M151), six (26%) belonged to O-M175(xM122, M119, M95), five (22%) belonged to O-M122 (including two O-M122(xM7, M164, M159, M121, M134), two O-M134(xM117/M133), and one O-M117/M133(xM162)), three (13%) belonged to C-M130 (including one C-M130(xM38, M48/M77/M86, M93, M8/M105/M131), one C-M93, and one C-M8/M105/M131), and one (4.3%) belonged to N-M128.[19]

Among 259 males from Japan (70 from Tokushima, 61 from Shizuoka, 53 from Kyūshū, 45 from Okinawa, 26 from Aomori, and 4 Ainus) whose Y-DNA has been examined in a 2005 study by Michael F. Hammer, ninety (34.7%) belong to haplogroup D-M55, eighty-two (31.7%) belong to haplogroup O-P31 (including 22% O-47z, 7.7% O-M176(x47z), and 1.9% O-M95(xM111)), fifty-two (20.1%) belong to haplogroup O-M122, fourteen (5.4%) belong to haplogroup C-M8, ten (3.9%) belong to haplogroup NO-M214(xO-M175) (including 2.3% NO-M214(xO-M175, N-LLY22g), 1.2% haplogroup N-LLY22g(xM128, P43, M178), and 0.4% haplogroup N-M178), and eight (3.1%) belong to haplogroup C-M217 (including 1.9% haplogroup C-M217(xM86) and 1.2% haplogroup C-M86).[20] The patrilines belonging to D-P37.1 were found in all the Japanese samples, but were more frequently found in the Ainu (75.0%) and Okinawa (55.6%) samples and less frequently found in the Tokushima (25.7%) and Kyūshū samples (26.4%).[20] 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.[20] Haplogroup N was detected in samples of Japanese from Aomori (2/26 N-LLY22g(xM128, P43, M178)), Shizuoka (1/61 N-LLY22g(xM128, P43, M178)), and Tokushima (1/70 N-M178), but was not found in the Kyūshū, Okinawa, or Ainu samples.[20] 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.[21] If focusing haplogroup O-P31 in those researches, the patrilines derived from its subclade O-SRY465 are frequently found in both Japanese (mean 32%,[22] with frequency in various samples ranging from 26%[23][24] to 36%[25]) and Koreans (mean 30%,[26] with frequency in various samples ranging from 19%[23][27] to 40%[25]). According to the research, these patrilines have undergone extensive genetic admixture with the Jōmon period populations previously established in Japan.[20]

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 (n=51), Chiba (n=45), Kanagawa (n=14), Saitama (n=13), Shizuoka (n=12), and Nagano (n=11), 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%.[28]

Poznik et al. (2016) have reported that the males in the JPT (Japanese in Tokyo, Japan) sample[29] 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.[30]

In a project approved by the Ethics Committee of Tokai University School of Medicine, Ochiai et al. (2016) have reported finding D-M174 (rs2032602 T>C) in 24/59 (40.7%), O-M268 (rs13447443 A>G) in 21/59 (35.6%), C-M130 (rs35284970 C>T) in 8/59 (13.6%), O-P198 (rs17269816 T>C) in 4/59 (6.8%), N-M231 (rs9341278 G>A) in 1/59 (1.7%), and O-P186(xM268, P198) (rs16981290 C>A, rs13447443 A, rs17269816 T) in 1/59 (1.7%) of a sample obtained through buccal swabs from Japanese male volunteers (n = 59) who had given informed consent to participate in the study.[31]

Mitochondrial DNA

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 (42/118 = 35.6%, including 39/118 = 33.1% D4 and 3/118 = 2.5% D5), B (16/118 = 13.6%, including 11/118 = 9.3% B4 and 5/118 = 4.2% B5), M7 (12/118 = 10.2%), G (12/118 = 10.2%), N9 (10/118 = 8.5%), F (9/118 = 7.6%), A (8/118 = 6.8%), Z (4/118 = 3.4%), M9 (3/118 = 2.5%), and M8 (2/118 = 1.7%).[32]

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 Southeast Asian populations as evident by the principal component analysis (PCA) chart. Some Japanese individuals are also genetically closer to Polynesian populations when compared to other East Asians such as Koreans and Han Chinese, indicating possible genetic interactions between Japanese and these populations.[33][34]

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.[35]

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.[36] According to this study, the Gm ab3st gene is found at notably high frequencies across eastern Siberia, northern China, Korea, Mongolia, Japan, and Tibet.[36] The mean frequency of Gm ab3st for the mainstream Japanese population was found to be 26.0%, with a peak in the Yaeyama Islands (36.4% Yonaguni, 32.1% Ishigaki) among all populations in Japan and peaks in Akita (29.5%) and Shizunai (28.3%) among mainstream Japanese.[36] On mainland Asia, peak frequencies of Gm ab3st were found among Oroqen (44.0%) and Tungus (30.0%) in northeast China and among the north Baikal Buryats (30.7%); however, this gene is also frequent among Eskimos (25.4% Alaska, 24.7% Greenland, 20.5% Chaplin, Russia), Luoravetlans (Koryak 20.0%, Chukchi 15.3%), and Athabaskans (New Mexico Apache 19.7%, Alaska Athabascan 14.3%), and it is not uncommon even as far west as the south shore of the Caspian Sea (8.8% Gilani, 8.5% Mazanderani).[36] Minimum frequencies of Gm ab3st were found in Yakushima (22.0%) among all populations in Japan and in Tsu (23.3%) and Ōita (23.6%) among mainstream Japanese.[36] 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.[36] 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% (range 13.1% Pusan, South Korea to 18.6% Yanji, China) among Koreans.[36]

Gm afb1b3, on the other hand, is a southern marker gene possibly originating in southern China on the background of the fb1b3 gene (the modal Gm type among Caucasoids) and found at very high frequencies across southern China, Southeast Asia, Taiwan, Sri Lanka, Bangladesh, Nepal, Assam, and the Pacific Islands.[36] 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 (95.2% Shui in Sandu, Guizhou, 94.2% Zhuang in Guangxi, 91.4% Bouyei in Duyun, Guizhou, 87.5% Miao in Guizhou, 84.0% Dai in Luxi, Yunnan) and from neighboring Laos (97.0% Laotian) and Thailand (89.9% Thai).[36] However, Gm afb1b3 is almost equally common among people in Malaysia (97.3% Kadazan on Borneo, 85.0% Malay), Indonesia (76.6% Sulawesi, 75.2% Java), the Philippines (83.6% Luzon Filipinos, 76.4% Luzon Negritos, 67.2% Mindanao Negritos), Karen people in Thailand (82.3%), Kacharis in Assam (80.9%), Cambodians (76.7%), Taiwanese aborigines (76.2%), Micronesians (88.7%), Melanesians (74.6%), and Polynesians (74.7% Cook Islands, 69.4% Hawaii).[36] The study found that the mean frequency of Gm afb1b3 was 10.6% (range 7.8% Shizunai to 13.0% Osaka) for the general Japanese population. Minimum frequencies (4.0% to 4.4%) 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 (4.3%) 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 (from southern China or Southeast Asia as far west as Bangladesh and Nepal) populations having the Gm afb1b3 gene in high frequency.[36]

The other Gm types observed among Japanese are ag (45.8%) and axg (17.6%), 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 (with the frequency of ag being significantly greater than the frequency of axg) in many populations all over the world (aboriginal Australians and Americans, South Asians, Caucasoids, etc.).[36]

Anthropometry

Stephen Pheasant (1986), who taught anatomy, biomechanics and ergonomics at the Royal Free Hospital and the University College, London, said that Far Eastern people have proportionately shorter lower limbs than European and black African people. Pheasant said that the proportionately short lower limbs of Far Eastern people is a difference that is most characterized in Japanese people, less characterized in Korean and Chinese people, and least characterized in Vietnamese and Thai people.[37][38]

Hirofumi Matsumura et al. (2001) and Hideo Matsumoto et al. (2009) said that the Japanese and Vietnamese people are regarded to be a mix of Northeast Asians and Southeast Asians who are related to today Austronesian peoples. But the amount of northern genetics is higher in Japanese people compared to Vietnamese who are closer to other Southeast Asians (Thai or Bamar people).[39][40]

Craniometry

Ashley Montagu (1989) said that the "Mongoloid skull generally, whether Chinese or Japanese, has been rather more neotenized than the Caucasoid or European..."[41]

Ann Kumar (1998) said that Michael Pietrusewsky (1992) said that, in a craniometric study, Borneo, Vietnam, Sulu, Java, and Sulawesi are closer to Japan, in that order, than Mongolian and Chinese populations are close to Japan. In the craniometric study, Michael Pietrusewsky (1992) said that, even though Japanese people cluster with Mongolians, Chinese and Southeast Asians in a larger Asian cluster, Japanese people are more closely aligned with several mainland and island Southeast Asian samples than with Mongolians and Chinese.[42][43]

In a craniometric study, Pietrusewsky (1994) found that the Japanese series, which was a series that spanned from the Yayoi period to modern times, formed a single branch with Korea.[44] Later, Pietrusewsky (1999) found, however, that Korean and Yayoi people were very highly separated in the East Asian cluster, indicating that the connection that Japanese have with Korea would not have derived from Yayoi people.[44]

Park Dae-kyoon et al. (2001) said that distance analysis based on thirty-nine non-metric cranial traits showed that Koreans are closer craniometrically to Kazakhs and Mongols than to the populations in China and Japan.[45]

See also

References

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