Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages

Tajima, Atsushi; Hayami, Masanori; Tokunaga, Katsushi; Juji, Takeo; Matsuo, Masafumi; Marzuki, Sangkot; Omoto, Keiichi; Horai, Satoshi

doi:10.1007/s10038-004-0131-x

Cited by 110 publications

(135 citation statements)

References 30 publications

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“…This possible genetic continuity is corroborated by Y chromosome DNA analysis of the modern Ainu. Y chromosomal DNA haplogroup D1b, which is considered to be a strong candidate for the Jomon paternal lineage, was observed at high frequency in the modern Ainu (Hammer et al, 2006; Tajima et al, 2004). …”

Section: Resultsmentioning

confidence: 99%

“…Frequencies of mtDNA haplogroups are inferred from published data as follows: Hokkaido Jomon (Adachi et al, 2011); Okhotsk (Sato et al, 2009); Modern Ainu (Tajima et al, 2004);.Mainland Japanese (Maruyama et al, 2003); Ryukyu Islanders (Sekiguchi et al, 2008); Koreans (Lee et al, 2006); Han Chinese (Xu & Hu, 2015; Yao et al, 2002);.Nivkhi, Udegey, Negidal (Starikovskaya et al, 2005); Ulchi, Even (Sukernik et al, 2012); Koryak, Itel'men (Schurr et al, 1999). All populations except for the Edo Ainu, Okhotsk, and.…”

Section: Resultsmentioning

confidence: 99%

“…Frequencies of mtDNA haplogroups are inferred from published data as follows: Hokkaido Jomon (Adachi et al, 2011); Okhotsk (Sato et al, 2009); Modern Ainu (Tajima et al, 2004);.…”

Section: Resultsmentioning

confidence: 99%

“…and K.S. To clarify the biological relationships between the Edo Ainu and other populations, their haplogroup frequencies were compared with those of 14 ancient and modern‐day East Asian and Siberian populations obtained from previously published data (Adachi et al, 2011; Lee et al, 2006; Maruyama, Minaguchi, & Saitou, 2003; Sato et al, 2009; Schurr, Sukernik, Starikovskaya, & Wallace, 1999; Sekiguchi et al, 2008; Starikovskaya, Sukernik, Schurr, Kogelnik, & Wallace, 1998; Starikovskaya et al, 2005; Sukernik et al, 2012; Tajima et al, 2004; Xu & Hu, 2015; Yao, Kong, Bandelt, Kivisild, & Zhang, 2002). The approximate locations of these populations are shown in Figure 1.…”

Section: Methodsmentioning

confidence: 99%

“…The first is that almost all of these studies (Hammer et al, 2006; Harihara, Hirai, & Omoto, 1986; Harihara et al, 1988; Horai et al, 1996; Jinam et al, 2015, 2012; Tajima et al, 2004) were based on modern‐day samples. Historically, after the Meiji government started sending settlers to Hokkaido as a national policy in 1869 (Fumoto, 2004), an enormous number of mainland Japanese migrated to Hokkaido, and their apparent genetic influence on the modern‐day Ainu was confirmed by a genome‐wide single‐nucleotide polymorphism (SNP) analysis by Jinam et al (2012).…”

Section: Introductionmentioning

confidence: 99%

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Ethnic derivation of the Ainu inferred from ancient mitochondrial DNA data

Adachi

Kakuda

Takahashi

et al. 2017

American J Phys Anthropol

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ObjectivesThe Ainu, the indigenous people living on the northernmost island of Japan, Hokkaido, have long been a focus of anthropological interest because of their cultural, linguistic, and physical identity. A major problem with genetic studies on the Ainu is that the previously published data stemmed almost exclusively from only 51 modern‐day individuals living in Biratori Town, central Hokkaido. To clarify the actual genetic characteristics of the Ainu, individuals who are less influenced by mainland Japanese, who started large‐scale immigration into Hokkaido about 150 years ago, should be examined. Moreover, the samples should be collected from all over Hokkaido.Materials and methodsMitochondrial DNA haplogroups of 94 Ainu individuals from the Edo era were successfully determined by analyzing haplogroup‐defining polymorphisms in the hypervariable and coding regions. Thereafter, their frequencies were compared to those of other populations.ResultsOur findings indicate that the Ainu still retain the matrilineage of the Hokkaido Jomon people. However, the Siberian influence on this population is far greater than previously recognized. Moreover, the influence of mainland Japanese is evident, especially in the southwestern part of Hokkaido that is adjacent to Honshu, the main island of Japan.DiscussionOur results suggest that the Ainu were formed from the Hokkaido Jomon people, but subsequently underwent considerable admixture with adjacent populations. The present study strongly recommends revision of the widely accepted dual‐structure model for the population history of the Japanese, in which the Ainu are assumed to be the direct descendants of the Jomon people.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

“…Frequencies of mtDNA haplogroups are inferred from published data as follows: Hokkaido Jomon (Adachi et al, 2011); Okhotsk (Sato et al, 2009); Modern Ainu (Tajima et al, 2004);.…”

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Ethnic derivation of the Ainu inferred from ancient mitochondrial DNA data

Adachi

Kakuda

Takahashi

et al. 2017

American J Phys Anthropol

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Ancient mitochondrial DNA from Malaysian hair samples: Some indications of Southeast Asian population movements

Ricaut

Bellatti

Lahr

2006

American J Hum Biol

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The late Pleistocene and early Holocene population history of Southeast Asia is not well-known. Our study provides new data on mitochondrial DNA (mtDNA) lineages of the aboriginal inhabitants of the Malay Peninsula, and through an extensive comparison to the known mtDNA diversity in Southeast and East Asia, provides some new insights into the origins and historical geography of certain mtDNA lineages in the region. We extracted DNA from hair samples (dating back 100 years) preserved in the Duckworth Collection and belonging to two Peninsular Malaysian individuals identified as "Negrito." Ancient DNA was analyzed by sequencing hypervariable region I (HVS-I) of the mtDNA control region and the mtDNA region V length polymorphism. The results show that the maternal lineages of these individuals belong to a recently defined haplogroup B sub-branch called B4c2. A comparison of mitochondrial haplotypes and haplogroups with those of 10,349 East Asian individuals indicates their very restricted geographical distribution (southwestern China, Southeast Asia Peninsula, and Indonesia). Recalculation of the B4c2 age across all of East Asia ( approximately 13,000 years) and in different subregions/populations suggests its rapid diffusion in Southeast Asia between the end of the Last Glacial Maximum and the Neolithic expansion of the Holocene.

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Metric and nonmetric dental variation and the population structure of the Ainu

Hanihara

2009

American J Hum Biol

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Gene flow and genetic drift are important factors affecting geographic variations in human phenotypic traits. In the present study, the effects of gene flow from an outside source on the pattern of within- and among-group variation of the Ainu from Sakhalin Island and three local groups of Hokkaido are examined by applying an R-matrix approach to metric and nonmetric dental data. The comparative samples consist of their ancestral and neighboring populations, such as the Neolithic Jomon, the subsequent Epi-Jomon/Satsumon, the Okhotsk culture people who migrated from Northeast Asia to the northeastern part of Hokkaido during a period 1600-900 years B.P., and modern non-Ainu Japanese. The results obtained by using the census population sizes of the regional groups of the Ainu as an estimate of relative effective population size suggest the possibility of an admixture between the Okhotsk culture people and the indigenous inhabitants in Hokkaido, at least in the coastal region along the Sea of Okhotsk. Such gene flow from Northeast Asian continent may have exerted an effect on the genetic structure of the contemporary Ainu. The present findings indicate that the population structure, as represented by genetic drift and gene flow, tend to be obscured in the results obtained by standard statistical methods such as Mahalanobis' generalized distance and Smith's MMDs. The present extension of the R-matrix approach to metric and nonmetric dental data provide results that can be interpreted in terms of a genetically, archaeologically, and prehistorically suggested pattern of gene flow and isolation.

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Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages

Cited by 110 publications

References 30 publications

Ethnic derivation of the Ainu inferred from ancient mitochondrial DNA data

Ethnic derivation of the Ainu inferred from ancient mitochondrial DNA data

Ancient mitochondrial DNA from Malaysian hair samples: Some indications of Southeast Asian population movements

Metric and nonmetric dental variation and the population structure of the Ainu

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