Unique characteristics of the Ainu population in Northern Japan
Unique characteristics of the Ainu population in Northern Japan
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DOI：
10.1038/jhg.2015.79
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发表时间：
2015-10-01
影响因子：
3.5
通讯作者：
Saitou, Naruya
中科院分区：
文献类型：
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作者：
Jinam, Timothy A.;Kanzawa-Kiriyama, Hideaki;Saitou, Naruya
各种遗传数据（经典标记、线粒体DNA、Y染色体和全基因组单核苷酸多态性（SNP））证实了日本群岛上三个主要人群的共存：北海道的阿伊努人、南部岛屿的琉球人和日本大陆人。我们比较了阿伊努人、琉球人和日本大陆人的全基因组SNP数据，发现：（1）阿伊努人与居住在本州岛北方东北的日本大陆人在遗传上存在差异;（2）将阿伊努人作为绳纹人和亚洲大陆人的后裔（汉族、朝鲜族）作为弥生人的后裔，绳纹基因在日本大陆的比例为18%，在琉球的比例为28%;（3）根据最近与大陆日本人杂交的个体数量，大陆日本人的杂交时间为55 ~ 58代，琉球人的杂交时间为43 ~ 44代;（4）部分阿伊努人的单倍型估计表明与大陆日本人的杂交时间相对较长;（5）阿伊努人与日本大陆人的基因组高度分化区包括EDAR和COL 7A 1基因区，这两个基因区对宏观表型有影响。这些结果清楚地表明了阿伊努人和琉球人在东亚的独特地位。
Various genetic data (classic markers, mitochondrial DNAs, Y chromosomes and genome-wide single-nucleotide polymorphisms (SNPs)) have confirmed the coexistence of three major human populations on the Japanese Archipelago: Ainu in Hokkaido, Ryukyuans in the Southern Islands and Mainland Japanese. We compared genome-wide SNP data of the Ainu, Ryukyuans and Mainland Japanese, and found the following results: (1) the Ainu are genetically different from Mainland Japanese living in Tohoku, the northern part of Honshu Island; (2) using Ainu as descendants of the Jomon people and continental Asians (Han Chinese, Koreans) as descendants of Yayoi people, the proportion of Jomon genetic component in Mainland Japanese was similar to 18% and similar to 28% in Ryukyuans; (3) the time since admixture for Mainland Japanese ranged from 55 to 58 generations ago, and 43 to 44 generations ago for the Ryukyuans, depending on the number of Ainu individuals with varying rates of recent admixture with Mainland Japanese; (4) estimated haplotypes of some Ainu individuals suggested relatively long-term admixture with Mainland Japanese; and (5) highly differentiated genomic regions between Ainu and Mainland Japanese included EDAR and COL7A1 gene regions, which were shown to influence macroscopic phenotypes. These results clearly demonstrate the unique status of the Ainu and Ryukyuan people within East Asia.