Evolutionary history of the COII/tRNALys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific.
Evolutionary history of the COII/tRNALys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific.
复制标题
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。
DOI：
10.1093/oxfordjournals.molbev.a040240
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发表时间：
1995
影响因子：
10.7
通讯作者：
Stoneking,M
中科院分区：
文献类型：
--
作者：
Redd,AJ;Takezaki,N;Sherry,ST;McGarvey,ST;Sofro,AS;Stoneking,M
人类线粒体DNA（mtDNA）的长度变化是推断种群进化历史的潜在有用标记。一个这样的长度变化是位于COII基因和赖氨酸tRNA基因之间的基因间区域（COII/tRNALys基因间区域）中的9个碱基对（9-bp）缺失。这种缺失被用作遗传标记来追踪东亚血统的人。在现代太平洋岛民人群的删除频率的地理渐变表明，删除可能是有用的史前波利尼西亚人的起源和亲缘关系。控制区（CR）的两个可变段内的线粒体DNA序列变异允许关于9-bp缺失的进化历史的一些推论，这些推论不能仅从频率数据确定。我们从印度尼西亚、沿海的巴布亚新几内亚（PNG）和美属萨摩亚的74个缺失9-bp的mtDNA中获得了CR序列。这些CR序列与先前发表的CR序列汇总的系统发育和成对分布分析显示，缺失独立出现在非洲和亚洲，并建议在亚洲的缺失可能有多个起源。在三个太平洋人群中，9-bp缺失频率的临床增加与CR序列多样性的减少相关，与创始人事件一致。此外，对成对差异分布的分析表明，原始波利尼西亚人的扩张时间始于5,500年前的东南亚。这些结果与起源于波利尼西亚的快车模型一致。
Length changes in human mitochondrial DNA (mtDNA) are potentially useful markers for inferring the evolutionary history of populations. One such length change is a nine base pair (9-bp) deletion that is located in the intergenic region between the COII gene and the Lysine tRNA gene (COII/tRNALys intergenic region). This deletion has been used as a genetic marker to trace descent from peoples of East Asian origin. A geographic cline of the deletion frequency across modern Pacific Islander populations suggests that the deletion may be useful for tracing prehistoric Polynesian origins and affinities. Mitochondrial DNA sequence variation within two variable segments of the control region (CR) permits a number of inferences regarding the evolutionary history of the 9-bp deletion that cannot be determined from frequency data alone. We obtained CR sequences from 74 mtDNAs with the 9-bp deletion from Indonesia, coastal Papua New Guinea (PNG), and American Samoa. Phylogenetic and pairwise distribution analysis of these CR sequences pooled with previously published CR sequences reveals that the deletion arose independently in Africa and Asia and suggests possible multiple origins of the deletion in Asia. A clinal increase of the frequency of the 9-bp deletion across the three Pacific populations is associated with a decrease in CR sequence diversity, consistent with founder events. Furthermore, analysis of pairwise difference distributions indicates an expansion time of proto-Polynesians that began 5,500 yr ago from Southeast Asia. These results are consistent with the express train model of Polynesian origins.