mtDNA polymorphism in East Asian Populations, with special reference to the peopling of Japan.
mtDNA polymorphism in East Asian Populations, with special reference to the peopling of Japan.
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东亚人群的线粒体DNA多态性，特别是日本人群。
DOI：
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发表时间：
1996
影响因子：
9.8
通讯作者：
I. Pan
中科院分区：
文献类型：
--
作者：
S. Horai;K. Murayama;K. Hayasaka;S. Matsubayashi;Y. Hattori;G. Fucharoen;S. Harihara;K. Park;K. Omoto;I. Pan
分析了包括日本大陆人、阿伊努人、琉球人、韩国人和中国人在内的5个东亚人群mtDNA主要非编码区（d环）的核苷酸序列。通过对293个东亚人482-bp序列的比较，发现了207种不同的序列类型。其中189种是各自种群所独有的，而18种是两三个种群共有的。在共有的类型中，日本人和韩国人共有8种，这是比较中最多的。COII/tRNA(Lys) 9-bp基因间缺失在东亚人群中均存在，但频率不同。d环序列的变化表明，东亚人的祖先中只发生过一次缺失事件。系统发育分析表明，东亚谱系至少可分为18个单系群，尽管这5个群体的谱系在系统发育树上是完全混合的。然而，我们根据种群的特异性对18个聚类中的14个进行了分配，每个聚类中最大个体数来源于种群。值得注意的是，50%的日本大陆人具有大陆特异性，其中中国人或韩国人占主导地位，而琉球人或阿伊努人具有大陆特异性的比例不到20%。整个人类种群的系统发育分析显示，日本大陆人和韩国人之间的遗传亲缘关系最为密切。因此，本研究结果与现代日语起源的杂交模型是一致的。据推测，日本大陆约65%的基因库来自弥生时代之后的大陆基因流。
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.
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太平洋人类线粒体 DNA 中 COII/tRNALys 基因间 9 碱基对缺失的进化史。
影响因子：
10.7
作者：
Redd,AJ;Takezaki,N;Sherry,ST;McGarvey,ST;Sofro,AS;Stoneking,M
通讯作者：
Stoneking,M
DOI：
10.1073/pnas.90.22.10663
发表时间：
1993
影响因子：
11.1
作者：
Ward,RH;Redd,A;Valencia,D;Frazier,B;Pääbo,S
通讯作者：
Pääbo,S
单个美洲印第安部落内存在广泛的线粒体多样性。
DOI：
10.1073/pnas.88.19.8720
发表时间：
1991
影响因子：
11.1
作者：
Ward,RH;Frazier,BL;Dew-Jager,K;Pääbo,S
通讯作者：
Pääbo,S
墨西哥南部四个美洲原住民群体的 mtDNA 和 Y 染色体多态性。
影响因子：
9.8
作者：
Torroni,A;Chen,YS;Semino,O;Santachiara-Beneceretti,AS;Scott,CR;Lott,MT;Winter,M;Wallace,DC
通讯作者：
Wallace,DC
线粒体DNA序列表明白令海峡和北美北部人群最近出现了进化分歧。
影响因子：
9.8
作者：
Shields,GF;Schmiechen,AM;Frazier,BL;Redd,A;Voevoda,MI;Reed,JK;Ward,RH
通讯作者：
Ward,RH