Evidence for mitochondrial DNA recombination in a human population of island Melanesia
Evidence for mitochondrial DNA recombination in a human population of island Melanesia
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DOI：
10.1098/rspb.1999.0663
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发表时间：
1999-03-07
影响因子：
4.7
通讯作者：
Bowden, DK
中科院分区：
文献类型：
--
作者：
Hagelberg, E;Goldman, N;Bowden, DK
线粒体DNA（mtDNA）分析已被证明是有用的，在最近的人类进化和不同地理区域的人类群体的遗传亲和力的研究。作为广泛调查的mtDNA多样性在当今的太平洋人群的一部分，我们获得了高变mtDNA控制区的452个人从不同的地方在西太平洋的序列信息。线粒体DNA类型分为三大类，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Nguna小岛上检测到了一种极其罕见的高频率点突变。mtDNA数据的系统发育分析表明，突变存在于不同mtDNA谱系的个体中。我们认为，在一个孤立的地方，一个罕见的突变事件的多次发生是极不可能的，不同的mtDNA类型之间的重组是一个更可能的解释，我们的观察。如果正确的话，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。
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.