PHYLOGENETIC AFFILIATION OF ANCIENT AND CONTEMPORARY HUMANS INFERRED FROM MITOCHONDRIAL-DNA
PHYLOGENETIC AFFILIATION OF ANCIENT AND CONTEMPORARY HUMANS INFERRED FROM MITOCHONDRIAL-DNA
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DOI：
10.1098/rstb.1991.0091
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发表时间：
1991-09-30
期刊：
影响因子：
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通讯作者：
NAKAI, N
中科院分区：
文献类型：
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作者：
HORAI, S;KONDO, R;NAKAI, N
对27个当代蒙古人种（20个来自东南亚，7个来自美洲）和11个古代日本人（5个来自绳纹时代，3000-6000年前，6个来自现代早期阿伊努人，200-300年前）的线粒体DNA主要非编码区（mtDNA）进行了核苷酸序列分析。 在这两种情况下，直接从聚合酶链反应产物中确定序列。 根据对128个现代人的482个碱基对序列的比较，核苷酸多样性估计为1.46%，这是从整个mtDNA基因组的限制性内切酶分析估计的相应值的3倍。 系统发育树显示，所有谱系至少可分为五个簇，指定为C1-C5。 C1完全由非洲人组成，大多数亚洲人和欧洲人分别组成了C2，C3，C5和C4。 系统发育分析还表明，包括日本人在内的部分亚洲人后来与大多数非洲人分道扬镳，因此亚洲人可以分为两个不同的群体。 然而，美洲原住民只出现在C3和C5，这表明在美洲人口增长期间，创始人人口的规模并不那么大。 来自高度多态性区域的古代骨骼的核苷酸序列也与当代人类的核苷酸序列进行了比较。 该区域内139条序列的核苷酸多样性为2.26%。 一群古代日本人，包括绳文人和阿伊努人，与一群当代日本人和东南亚人有着密切的亲缘关系。 此外，所有的古代日本人显然被放在一个更大的集群中，表明他们与当代日本人的另一个群体的谱系差异。 这一观察支持了移民理论，该理论认为来自亚洲大陆的移民对现代日本人的形成做出了相当大的贡献。 最后，使用聚合酶链反应分析美洲原住民样本的亚洲特异性缺失的存在进行了检查。 在一个木乃伊样本中发现了这种缺失。 这与目前的序列分析和已发表的信息一起清楚地表明，环太平洋人口（亚洲人，大洋洲人和美洲土著人）可以分为两个不同的线粒体谱系。
Nucleotide sequence analysis of the major non-coding region of human mitochondrial DNA (mtDNA) from three major races was extended with data from 27 contemporary Mongoloids (20 from southeast Asia, seven from America) and 11 Ancient Japanese bones (five from Jomon Age; 3000-6000 years BP, six from the early modern Ainu; 200-300 years BP). In both cases, the sequence was determined directly from the polymerase chain reaction products. Based on a comparison of the 482 base pair sequences from a total of 128 contemporary humans, the nucleotide diversity is estimated to be 1.46%, which is three times higher than the corresponding value estimated from restriction-enzyme analysis of the whole mtDNA genome. The phylogenetic tree revealed that all lineages are classified into at least five clusters designated as C1-C5. C1 consists exclusively of Africans, and most Asians and Europeans formed C2, C3, C5 and C4, respectively. Phylogenetic analysis also indicated that part of the Asians, including the Japanese, subsequently diverged from the majority of Africans, and that Asians can therefore be separated into two distinct groups. Native Americans, however, appeared only in C3 and C5, suggesting that the size of the founder population was not so large during the peopling of America. Nucleotide sequences derived from ancient bones in a highly polymorphic region were also compared with those of contemporary humans. The nucleotide diveristy among the 139 sequences in the region was estimated to be 2.26%. A group of ancient Japanese, including both Jomon peoples and the Ainu, showed a close phylogenetic affiliation with one group of contemporary Japanese and southeast Asians. Moreover, all of the ancient Japanese were clearly placed in a larger cluster, indicating their genealogical difference from another group of contemporary Japanese. This observation supports the immigration theory, which postulates that immigrants from the Asian continent made a considerable contribution to the formation of modern Japanese. Finally, the presence of an Asian-specific deletion was examined by using polymerase chain reaction analysis of native American samples. The deletion was found in one mummy sample. This, together with the present sequence analysis and published information, clearly shows that the Circum-Pacifican populations (Asians, Oceanians and native Americans) can be separated into two distinct mitochondrial lineages.