Detection of ancestry informative HLA alleles confirms the admixed origins of Japanese population.
Detection of ancestry informative HLA alleles confirms the admixed origins of Japanese population.
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DOI：
10.1371/journal.pone.0060793
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Inoue I
中科院分区：
文献类型：
--
作者：
Nakaoka H;Mitsunaga S;Hosomichi K;Shyh-Yuh L;Sawamoto T;Fujiwara T;Tsutsui N;Suematsu K;Shinagawa A;Inoko H;Inoue I
人类白细胞抗原（HLA）区域的多态性是研究人类进化过程的有力工具。本研究利用日本10个地区2005人HLA基因型（HLA- a、-B、-C、-DRB1和-DPB1），对日本人的遗传结构进行了研究。我们发现日本人的种群亚结构水平显著；特别是冲绳岛和日本本土的区别。通过主成分得分图，我们确定了与潜在群体亚结构相关的祖先信息等位基因。我们检查了在区域间分化的单倍型上HLA等位基因对之间的连锁不平衡（LD）程度。冲绳岛人群HLA等位基因的低频率对和高频率对的ld分别为强、弱。等位基因表现出强LD的5位点单倍型是日本人和韩国人所特有的，表明这些单倍型是最近从朝鲜半岛衍生出来的。与韩国人相比，日本人频率较高的等位基因形成了在阿留申人、爱斯基摩人、北美洲和中美洲人中普遍存在的三节段单倍型，而在韩国和中国人中未见。血清学上相同的单倍型在台湾兰屿、蒙古、西伯利亚和北极地区均有发现。这表明，在朝鲜半岛移民潮之前存在的早期日本人与通过白令海峡陆桥来到新大陆的北亚人有共同的祖先。这些结果可以支持日本列岛人口迁移的混合模型。
The polymorphisms in the human leukocyte antigen (HLA) region are powerful tool for studying human evolutionary processes. We investigated genetic structure of Japanese by using five-locus HLA genotypes (HLA-A, -B, -C, -DRB1, and -DPB1) of 2,005 individuals from 10 regions of Japan. We found a significant level of population substructure in Japanese; particularly the differentiation between Okinawa Island and mainland Japanese. By using a plot of the principal component scores, we identified ancestry informative alleles associated with the underlying population substructure. We examined extent of linkage disequilibrium (LD) between pairs of HLA alleles on the haplotypes that were differentiated among regions. The LDs were strong and weak for pairs of HLA alleles characterized by low and high frequencies in Okinawa Island, respectively. The five-locus haplotypes whose alleles exhibit strong LD were unique to Japanese and South Korean, suggesting that these haplotypes had been recently derived from the Korean Peninsula. The alleles characterized by high frequency in Japanese compared to South Korean formed segmented three-locus haplotype that was commonly found in Aleuts, Eskimos, and North- and Meso-Americans but not observed in Korean and Chinese. The serologically equivalent haplotype was found in Orchid Island in Taiwan, Mongol, Siberia, and Arctic regions. It suggests that early Japanese who existed prior to the migration wave from the Korean Peninsula shared ancestry with northern Asian who moved to the New World via the Bering Strait land bridge. These results may support the admixture model for peopling of Japanese Archipelago.
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DOI：
10.1073/pnas.0409500102
发表时间：
2005-03-15
影响因子：
11.1
作者：
Hung, SL;Chung, WH;Chen, YT
通讯作者：
Chen, YT
影响因子：
--
作者：
Lee, KW;Oh, DH;Yang, SY
通讯作者：
Yang, SY
影响因子：
14.9
作者：
Gonzalez-Galarza FF;Christmas S;Middleton D;Jones AR
通讯作者：
Jones AR
影响因子：
56.9
作者：
Abdulla, Mahmood Ameen;Ahmed, Ikhlak;Zilfalil, Bin Alwi
通讯作者：
Zilfalil, Bin Alwi
影响因子：
2.6
作者：
Excoffier, Laurent;Laval, Guillaume;Schneider, Stefan
通讯作者：
Schneider, Stefan