Mitochondrial genome variation and the origin of modern humans
Mitochondrial genome variation and the origin of modern humans
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DOI：
10.1038/35047064
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发表时间：
2000-12-07
期刊：
影响因子：
64.8
通讯作者：
Gyllensten, U
中科院分区：
文献类型：
--
作者：
Ingman, M;Kaessmann, H;Gyllensten, U
线粒体DNA（mtDNA）的分析一直是我们理解人类进化的有力工具，因为它具有高拷贝数、明显缺乏重组（1）、高替代率（2）和母系遗传模式（3）等特征。然而，几乎所有基于mtDNA测序的人类进化研究都局限于控制区，该区域占线粒体基因组的不到7%。这些研究由于位点之间替换率的极端变化而变得复杂，并且平行突变的后果（4）导致遗传距离估计困难，并使系统发育推断受到质疑（5）。对人类线粒体分子的最全面的研究是通过限制性片段长度多态性分析进行的（6），提供的数据不适合估计突变率，因此不适合估计进化事件的时间。在这里，为了改善从线粒体分子中获得的信息，用于人类进化的研究，我们描述了全球mtDNA多样性的基础上分析的53个不同起源的人的mtDNA全序列。我们的mtDNA数据，与相同个体的Xq13.3区域的平行研究（7）相比，提供了关于现代人类年龄的人类进化的共同观点。
The analysis of mitochondrial DNA (mtDNA) has been a potent tool in our understanding of human evolution, owing to characteristics such as high copy number, apparent lack of recombination(1), high substitution rate(2) and maternal mode of inheritance(3). However, almost all studies of human evolution based on mtDNA sequencing have been confined to the control region, which constitutes less than 7% of the mitochondrial genome. These studies are complicated by the extreme variation in substitution rate between sites, and the consequence of parallel mutations(4) causing difficulties in the estimation of genetic distance and making phylogenetic inferences questionable(5). Most comprehensive studies of the human mitochondrial molecule have been carried out through restriction-fragment length polymorphism analysis(6), providing data that are ill suited to estimations of mutation rate and therefore the timing of evolutionary events. Here, to improve the information obtained from the mitochondrial molecule for studies of human evolution, We describe the global mtDNA diversity in humans based on analyses of the complete mtDNA sequence of 53 humans of diverse origins. Our mtDNA data, in comparison with those of a parallel study of the Xq13.3 region(7) in the same individuals, provide a concurrent view on human evolution with respect to the age of modern humans.