Sci Rep. 2012;2:355. doi: 10.1038/srep00355. Epub 2012 Apr 5.
The genetic origins of Japanese populations have been controversial. Upper Paleolithic Japanese, i.e. Jomon, developed independently in Japanese islands for more than 10,000 years until the isolation was ended with the influxes of continental immigrants about 2,000 years ago. However, the knowledge of origin of Jomon and its contribution to the genetic pool of contemporary Japanese is still limited, albeit the extensive studies using mtDNA and Y chromosomes. In this report, we aimed to infer the origin of Jomon and to estimate its contribution to Japanese by fitting an admixture model with missing data from Jomon to a genome-wide data from 94 worldwide populations. Our results showed that the genetic contributions of Jomon, the Paleolithic contingent in Japanese, are 54.3∼62.3% in Ryukyuans and 23.1∼39.5% in mainland Japanese, respectively. Utilizing inferred allele frequencies of the Jomon population, we further showed the Paleolithic contingent in Japanese had a Northeast Asia origin.
日本人群的遗传起源一直存在争议。旧石器时代晚期的日本人，即绳文人，在日本岛屿上独立发展了超过 10000 年，直到大约 2000 年前，随着来自大陆的移民的涌入，这种孤立状态才结束。然而，尽管对线粒体 DNA 和 Y 染色体进行了广泛的研究，但绳文人的起源及其对当代日本人遗传库的贡献仍然有限。在本报告中，我们旨在推断绳文人的起源，并通过将缺失数据的混合模型拟合到来自 94 个全球人群的全基因组数据，来估计其对日本人的贡献。我们的结果表明，绳文人，即日本人中的旧石器时代人群，对琉球人的遗传贡献分别为 54.3%至 62.3%，对大陆日本人的遗传贡献分别为 23.1%至 39.5%。利用推断出的绳文人种群的等位基因频率，我们进一步表明，日本人中的旧石器时代人群起源于东北亚。
