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ABSTRACT: The Ainu people are assumed to be the descendants of pre-agricultural native populations of northern Japan, while the majority of population of present-day Japan (Hondo-Japanese) is considered to have descended mainly from post-neolithic migrants. Sequence-level polymorphisms of the HLA-class I (HLA-A and HLA-B) genes were investigated in DNA samples of 50 Ainu living in Hidaka district, Hokkaido. HLA-A*2402, A*0201, A*0206, A*2601, A*3101, B*1501, B*5101, B*3901, and B*3501 were observed at frequencies of more than 10% and most of these have previously been found in populations of not only Asians but also North and South American Indians. A*68012, which has not so far been detected in Hondo-Japanese, was found in the Ainu (3%). On the other hand, several alleles common in Hondo-Japanese, including HLA-A*3303, A*1101, B*4403, B*5201, B*5401, B*4601, and B*0702 were infrequent in Ainu (0-1%). Correspondence and neighbor-joining analyses of various populations based on HLA-A, -B and -DRB1 gene frequencies enabled distinction between Asian, Native South American, European, and African populations. The Ainu, as well as Tlingit (Na-Dene), were placed midway between other East Asians, including Hondo Japanese, and Native South Americans (Amerindians) in the correspondence analysis. Furthermore, several HLA-A-B and HLA-B-DR-DQ haplotypes common in the Ainu, are shared with some Native American populations. These observations strongly suggest a unique place for the Ainu as descendants of some Upper Paleolithic populations of East Asia, from whom some Native Americans may have descended.
Tissue Antigens 03/2000; 55(2):128-39. · 2.59 Impact Factor
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ABSTRACT: Based on the morphological characteristics of the skull and teeth, Hanihara ([1991] Japan Review 2:1-33) proposed the "dual structure model" for the formation of modern Japanese populations. We examine this model by dividing it into two independent hypotheses: 1) the Upper Paleolithic population of Japan that gave rise to the Neolithic Jomon people was of southeast Asian origin, and 2) modern Ainu and Ryukyuan (Okinawa) populations are direct descendants of the Jomon people, while Hondo (Main Island)-Japanese are mainly derived from the migrants from the northeast Asian continent after the Aeneolithic Yayoi period. Our aim is to examine the extent to which the model is supported by genetic evidence from modern populations, particularly from Japan and other Asian areas. Based on genetic distance analyses using data from up to 25 "classic" genetic markers, we find first that the three Japanese populations including Ainu and Ryukyuan clearly belong to a northeast Asian cluster group. This negates the first hypothesis of the model. Then, we find that Ainu and Ryukyuans share a group contrasting with Hondo-Japanese and Korean, supporting the second hypothesis of the model. Based on these results, we propose a modified version of the dual structure model which may explain the genetic, morphological, and archaeological evidence concerning the formation of modern Japanese populations.
American Journal of Physical Anthropology 05/1997; 102(4):437-46. · 2.82 Impact Factor
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T Karafet,
S L Zegura,
J Vuturo-Brady,
O Posukh,
L Osipova,
V Wiebe,
F Romero,
J C Long,
S Harihara,
F Jin,
B Dashnyam,
T Gerelsaikhan, K Omoto,
M F Hammer
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ABSTRACT: Five polymorphisms involving two paternally inherited loci were surveyed in 38 world populations (n = 1,631) to investigate the origins of Native Americans. One of the six Y chromosome combination haplotypes (1T) was found at relatively high frequencies (17.8-75.0%) in nine Native American populations (n = 206) representing the three major linguistic divisions in the New World. Overall, these data do not support the Greenberg et al. (1986) tripartite model for the early peopling of the Americas. The 1T haplotype was also discovered at a low frequency in Siberian Eskimos (3/22), Chukchi (1/6), and Evens (1/65) but was absent from 17 other Asian populations (n = 987). The perplexing presence of the 1T haplotype in northeastern Siberia may be due to back-migration from the New World to Asia.
American Journal of Physical Anthropology 04/1997; 102(3):301-14. · 2.82 Impact Factor
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ABSTRACT: The Ainu people are considered to be the descendants of preagricultural native populations of northern Japan, while the majority of the population of contemporary Japan (Wajin) is descended mainly from postneolithic migrants. Polymorphisms of the HLA-DRB1, DRB3, and DQB1 alleles were investigated in DNA samples of 50 Ainu living in Hidaka district, Hokkaido. Unique features of the Ainu in this study were high incidences of DRB1*1401, DRB1*1406, and a newly described allele, DRB1*1106 (20%, 17%, and 5%, respectively). On the other hand, several common alleles in Wajin (DRB1*1502, 1302, 0803, and 1501) were found at relatively low frequencies (1-2%) in Ainu. Previously DRB1*1406 was described as a characteristic allele of some Native American or northeast Asian ethnic groups, and DRB1*1106 had been found in only two Singapore Chinese and one Korean. Principal component analysis of various populations based on HLA class II allele frequencies places the Ainu population midway between other east Asian populations, including Wajin, and Native Americans. These observations may support the hypothesis that the Ainu people are the descendants of some Upper Paleolithic populations of northeast Asia from which Native Americans are also descended.
American Journal of Physical Anthropology 10/1996; 101(1):1-9. · 2.82 Impact Factor
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ABSTRACT: Nucleotide sequences of the major noncoding (D-loop) region of human mtDNA from five East Asian populations including mainland Japanese, Ainu, Ryukyuans, Koreans, and Chinese were analyzed. On the basis of a comparison of 482-bp sequences in 293 East Asians, 207 different sequence types were observed. Of these, 189 were unique to their respective populations, whereas 18 were shared between two or three populations. Among the shared types, eight were found in common between the mainland Japanese and Koreans, which is the largest number in the comparison. The intergenic COII/tRNA(Lys) 9-bp deletion was observed in every East Asian population with varying frequencies. The D-loop sequence variation suggests that the deletion event occurred only once in the ancestry of East Asians. Phylogenetic analysis revealed that East Asian lineages were classified into at least 18 monophyletic clusters, though lineages from the five populations were completely intermingled in the phylogenetic tree. However, we assigned 14 of the 18 clusters for their specificity on the basis of the population from which the maximum number of individuals in each cluster was derived. Of note is the finding that 50% of the mainland Japanese had continental specificity in which Chinese or Koreans were dominant, while < 20% of either Ryukyuans or Ainu possessed continental specificity. Phylogenetic analysis of the entire human population revealed the closest genetic affinity between the mainland Japanese and Koreans. Thus, the results of this study are compatible with the hybridization model on the origin of modern Japanese. It is suggested that approximately 65% of the gene pool in mainland Japanese was derived from the continental gene flow after the Yayoi Age.
The American Journal of Human Genetics 10/1996; 59(3):579-90. · 10.60 Impact Factor
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M Nakatome,
K Honda,
Z Tun,
Y Kato,
S Harihara, K Omoto,
S Misawa,
T Gerelsaikhan,
S Nyamkhishig,
B Dashnyam,
J Batsuuri,
C Wakasugi
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ABSTRACT: The hypervariable region of the dopamine transporter gene (DAT1) was amplified from samples in the Mongolian population. This region includes a variable number of tandem repeats of a 40-bp core unit in the 3' untranslated region of DAT1. Vandenbergh et al. (1992) reported variability in the number of repeats of this 3' flanking region ranging from 3 to 11 times in white and black populations. We examined polymorphism at the DAT1 locus in 78 native Mongolian subjects. We found alleles with 7 to 13 repeats, which is different from the findings of Vandenbergh et al. (1992). The allele distribution of the Mongolian population is similar to that in the Japanese population, reported previously by Nakatome et al. (1995). Chi-square analysis showed a significant lack of homogeneity between our findings in Mongolian subjects and those reported previously in white and black populations. The DAT1 locus was estimated to have a heterozygosity index of 14.1%, and the polymorphic information content was calculated to be 0.16.
Human Biology 09/1996; 68(4):509-15. · 1.31 Impact Factor
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ABSTRACT: In our previous study, both of Y-associated alleles, Y1 and Y2, were detected in Japanese and Koreans, but only the Y1 allele was detected in each of other populations including Chinese in both Beijin and Guangzhou areas, Caucasians, Africans, and Jewish. In the present study, these observations were extended to other ethnic groups in East Asia. Evenks in central Siberia and Khalkhs in Mongolia had only the Y1 allele. On the other hand, two ethnic groups, Fo-lo and Hakka, in Taiwan had both of the Y1 and the Y2 alleles. Three of the eight Y2-positive men, 2 Fo-lo and a Hakka, shared family name Chen. Both Hakka people and ancestors of Chen families could be traced to the Province of Henan in northern China in early 4th century. They arrived in Fujian/Guangdong area in the south-east China via various routes and then some of them migrated to Taiwan in the 18th century. It is tempting to speculate that the Y2 allele may be originated from an ancestral population in Henan from which, Japanese, Koreans, and some of the Taiwanese diverged.
The Japanese journal of human genetics 10/1994; 39(3):299-304.
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ABSTRACT: Individuals of the following Asian populations were surveyed for the presence of a 9-base-pair deletion of mitochondrial DNA (mtDNA): Ainu, Japanese, Korean, Negrito, and Vedda. Although the variation was detected in every population except the Vedda, the frequencies of the variation differed widely among the populations, suggesting a geographic cline.
Human Biology 05/1992; 64(2):161-6. · 1.31 Impact Factor
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ABSTRACT: The hinge region of the immunoglobulin molecule is responsible for antigen-binding and cross-linking reactions, varying the distance between the two antigen-binding sites. As the amino acid sequence of the hinge region is identical among immunoglobulin molecules of the same (sub)class, it has been regarded as a constant region. By comparison of the nucleotide sequences among primate C alpha genes, it is clear that there is a wide variety of length among the hinge regions of hominoid C alpha genes, which basically consist of tandem repeats of a 15 base-pair sequence. This reiterated structure probably facilitates rapid evolutionary changes in the length of the hinge region. The hinge region of the Old World monkey C alpha gene has a non-reiterated structure whose nucleotide sequence is quite different from those of the hominoid C alpha genes, although its surrounding region is conserved during evolution. This unusual hypervariability reveals that the hinge region has evolved as a semi-variable region in contrast to its constant character from an ontogenic viewpoint.
Journal of Molecular Biology 10/1990; 215(2):201-6. · 4.00 Impact Factor
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ABSTRACT: The nucleotide sequence of a HLA-DRB gene with a predominant subtype of DRw8 specificity in Japanese (DR8.1) was determined with single-stranded DNA enzymatically amplified by polymerase chain reaction (PCR). The sequence differs at a single amino acid from both of the published DRw8/Dw8.1 and DRw8/Dw8.2 sequences: isoleucine67(AUC) instead of phenylalanine67(TTC) in DRw8/Dw8.1 and serine57(AGC) instead of aspartic acid57(GAT) in DRw8/Dw8.2. On the other hand the DR8.1 and DRw8/Dw8.3 have the same amino acid sequence although one silent nucleotide substitution has occurred between the two sequences. These results indicate that Japanese DR8.1 specificity corresponds to DRw8/Dw8.3. Furthermore, an oligonucleotide probe specific for this sequence was synthesized and hybridized with 33 HLA-typed controls. This probe clearly distinguished the particular subtype from other DRw8 subtypes and specificities.
The Japanese Journal of Human Genetics 07/1990; 35(2):151-7.
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ABSTRACT: Restriction fragment length polymorphism (RFLP) of the two genes for complement C4A and C4B was studied in 56 Japanese patients with rheumatoid arthritis (RA) and 161 normal individuals. HindIII digestion revealed six common patterns, from which the segregation of three common RFLP-types were deduced; 32-15 kb, 32-25 kb, and 32-20-13-6.5 kb. The last type showed positive associations with C4B5 and HLA-DR4. In the RA patients, an increase of this type was found as well as a decrease of the 32-15 kb/32-25-15 kb heterozygotes.
Tissue Antigens 06/1990; 35(5):197-202. · 2.59 Impact Factor
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Nucleic Acids Research 09/1989; 17(16):6732. · 8.03 Impact Factor
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ABSTRACT: Mitochondrial DNA restriction fragment length polymorphisms (mtDNA RFLPs) were surveyed among 19 Japanese families with 67 individuals including twins. A mother and children, and siblings of each family showed the same pattern of mtDNA RFLPs. Samples from Japanese war orphans remained in China and their probable relatives were also surveyed and one pair indicating a high probability to be siblings using other genetic markers possessed the same variant of mtDNA. Moreover mtDNA RFLPs was applied for maternity test among two families. The data suggested that parents mistook their children for each other at birth.
Nihon hōigaku zasshi = The Japanese journal of legal medicine 07/1989; 43(3):257-61.
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ABSTRACT: We investigated polymorphisms of complement components C2, C4, and factor B (BF) in Japanese patients with rheumatoid arthritis (RA). The frequencies of C4AQ0 (32.1%) and C4B5 (35.9%) among RA patients were significantly higher than among healthy control subjects. C4B5 was strongly associated with HLA-Bw54, Bw59, DR4.1, and DQw4. C4AQ0 showed no association with HLA-Bw54 or Bw59, but there was weak association with HLA-DR4.1 and DQw4. The number of persons with both C4AQ0 and C4B5 was significantly higher in the RA patient group (relative risk 13.5). C2C and BFS were the most common alleles in RA patients, as well as in healthy control subjects. These data support the existence of 2 different putative susceptibility haplotypes (HLA-Bw54 or Bw59;C2C; BFS;C4A3;C4B5;DR4.1;DQw4 and C2C;BFS; C4AQ0;C4B1 or C4B2) in Japanese patients with RA.
Arthritis & Rheumatism 07/1989; 32(6):691-8. · 7.87 Impact Factor
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ABSTRACT: The association between HLA-DR4 and rheumatoid arthritis (RA) has been established in many ethnic groups. To clarify the determinant of susceptibility to RA, a polymorphic segment of the HLA-DRB gene was amplified in vitro by polymerase chain reaction and analyzed with oligonucleotide probes specific for the HLA-DR4 DNA sequences. A particular sequence encoding amino acids Gln70-Arg71-Arg72-Ala73-Ala74 showed a strong association with RA (p less than 0.005, relative risk 6.0). This amino acid sequence occurs in the DRB molecules with three RA-associated specificities, DR4/Dw14, DR4/Dw15, and DR1. DR4/Dw4, which is common in Caucasian RA patients, has a strikingly similar amino acid sequence Gln70-Lys71-Arg72-Ala73-Ala74 in terms of polarity and charge profiles. Other RA nonassociated sequences differ from this sequence by at least one amino acid substitution that causes the change of the net charge. The composition of amino acid residues at the positions 70-74 may play a crucial role in the pathogenesis of RA.
Journal of Experimental Medicine 07/1989; 169(6):2263-8. · 13.85 Impact Factor
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ABSTRACT: To understand the phylogenetic relationships between hominoids, the nucleotide sequences of immunoglobulin-epsilon processed pseudogenes from chimpanzee, gorilla and orangutan were determined. The basic structures of these processed pseudogenes agreed with their human counterpart. Although the degrees of nucleotide differences between man and the African apes had no statistical significance, all the analytical data examined supported the theory that chimpanzee is the closest relative of man. This result was consistent with that deduced by our recent qualitative study. Studies on the nucleotide sequences of globin genes have suggested that the molecular clock runs more slowly in hominoids than in non-hominoid primates. According to the present data, however, further retardation of the evolutionary rate was not observed in the human lineage. Assuming that orangutan diverged 14 million years ago and that the evolutionary rate between the orangutan lineage and the lineage leading to the other three species is constant, the divergence dates of chimpanzee and gorilla were estimated to be 4.9(+/- 0.9) and 5.9(+/- 0.9) million years ago, respectively.
Journal of Molecular Biology 02/1989; 205(1):85-90. · 4.00 Impact Factor
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ABSTRACT: Genetic polymorphisms of the serum complement components (C2, C4, C6, and C7) and HLA-antigens were studied in Japanese patients with psoriasis vulgaris. Among these complement components, positive associations with C4A4 and C4B2 were obtained. In addition to the previously reported haplotypes HLA-Cw6-B13 and Cw6-Bw57-DR7, the extended haplotype HLA-Cw11-Bw46-C4A4. 4B2-BFS-C2C-DRw8 may be a high risk haplotype in Japanese patients with psoriasis vulgaris.
Nippon Hifuka Gakkai zasshi. The Japanese journal of dermatology 02/1989; 99(1):77-81.
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ABSTRACT: The prevalence of human T-lymphotropic retrovirus type-1 (HTLV-1) was examined in the Asian Pacific area to search for endemic foci outside Japan. A total of 1323 sera from healthy subjects in the Philippines including Filipino lowlanders, Mongoloid slash-and-burn agriculturalists and the Mongoloid aboriginal hunter-gatherers (Aeta group and Mamanwa group) were examined for the presence of antibodies to HTLV-1 by the indirect immunofluorescence test and by the Western blot technique using HTLV-1 carrying cells. Nineteen out of 20 HTLV-1 antibody carriers found in the present study are clustered in the Aeta group of Mongoloid aboriginal hunter-gatherers who have until recently been isolated in the remote mountainous areas of Luzon Island since their arrival in the Philippines during the last glacial era (12,000-15,000 years ago). This finding supports the theory that HTLV-1 originated in Mongoloid racial groups during prehistoric times.
International Journal of Epidemiology 10/1988; 17(3):625-8. · 6.41 Impact Factor
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ABSTRACT: Mitochondrial DNA (mtDNA) polymorphisms were detected using 13 restriction enzymes on the total DNA obtained from blood samples of five Asian populations: Japanese and Ainu of northern Japan, Korean, Negrito (Aeta) of the Philippines, and Vedda of Sri Lanka. Of a total of 28 restriction-enzyme morphs detected, eight had not been reported previously. By combining the morphs, we were able to classify mtDNAs of 243 individuals into 20 mtDNA types. Phylogenetic analyses using maximum parsimony and genetic distance methods both showed that the Japanese, Ainu, and Korean populations were closely related to each other. Aeta was found to show a relatively close relationship to these three populations, confirming the conclusion from previous studies of blood markers. In contrast, Vedda was quite different from the other four populations.
The American Journal of Human Genetics 09/1988; 43(2):134-43. · 10.60 Impact Factor
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ABSTRACT: The genetic polymorphism of the complement component C81 (alpha-gamma) in two Chinese populations (Beijing and Guangzhou) were investigated, using isoelectric focusing followed by an immunoblotting technique. Three common and two rare phenotypes were observed. The homozygote phenotype C81 A1 ascribed to a rare allele C81*A1 was newly detected. The frequencies calculated for the two common alleles were as follows: C81*A = 0.5674, C81*B = 0.4255 for the Beijing population; C81*A = 0.5117, C81*B = 0.4785 for the Guangzhou population. The gene frequencies of the two common alleles of C81 in both Chinese populations were similar to those for the other ethnic groups thus far reported, and there is no statistically significant difference between the Beijing and the Guangzhou populations.
Gene geography: a computerized bulletin on human gene frequencies 05/1988; 2(1):27-32.
