Hagelberg E, Goldman N, Lió P, Whelan S, Schiefenhövel W, Clegg J B, Bowden D K
Department of Genetics, University of Cambridge, UK.
Proc Biol Sci. 1999 Mar 7;266(1418):485-92. doi: 10.1098/rspb.1999.0663.
Mitochondrial DNA (mtDNA) analysis has proved useful in studies of recent human evolution and the genetic affinities of human groups of different geographical regions. As part of an extensive survey of mtDNA diversity in present-day Pacific populations, we obtained sequence information of the hypervariable mtDNA control region of 452 individuals from various localities in the western Pacific. The mtDNA types fell into three major groups which reflect the settlement history of the area. Interestingly, we detected an extremely rare point mutation at high frequency in the small island of Nguna in the Melanesian archipelago of Vanuatu. Phylogenetic analysis of the mtDNA data indicated that the mutation was present in individuals of separate mtDNA lineages. We propose that the multiple occurrence of a rare mutation event in one isolated locality is highly improbable, and that recombination between different mtDNA types is a more likely explanation for our observation. If correct, this conclusion has important implications for the use of mtDNA in phylogenetic and evolutionary studies.
线粒体DNA（mtDNA）分析已被证明在近期人类进化研究以及不同地理区域人类群体的遗传亲缘关系研究中很有用。作为对当今太平洋人群mtDNA多样性广泛调查的一部分，我们获得了来自西太平洋各地452个个体的高变mtDNA控制区的序列信息。mtDNA类型分为三大类，这反映了该地区的定居历史。有趣的是，我们在瓦努阿图美拉尼西亚群岛的恩古纳小岛上高频检测到一种极其罕见的点突变。对mtDNA数据的系统发育分析表明，该突变存在于不同mtDNA谱系的个体中。我们认为，在一个孤立地点罕见突变事件的多次发生极不可能，不同mtDNA类型之间的重组是对我们观察结果更有可能的解释。如果正确，这一结论对mtDNA在系统发育和进化研究中的应用具有重要意义。
