Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation.
Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation.
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DOI：
10.1098/rspb.2009.0752
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发表时间：
2009-10-07
期刊：
影响因子：
--
通讯作者：
Manica A
中科院分区：
文献类型：
--
作者：
Balloux F;Handley LJ;Jombart T;Liu H;Manica A
在文献中有一个关于人类线粒体DNA（mtDNA）是否中性进化的讨论。以前曾有人声称人类mtDNA的自然选择是基于北极人群中过量的非同义突变和特定线粒体突变的更高进化持久性。然而，这些发现并没有得到更大数据集的重新分析的支持。使用地理框架，我们进行了第一次直接测试的相对程度，气候和过去的人口塑造了目前的全球mtDNA序列的空间分布。我们发现，生活在寒冷的环境中的人口有较低的线粒体多样性和对人口之间的遗传分化与温度的差异。这些关联是线粒体DNA所独有的;我们在任何其他遗传标记中都找不到类似的模式。我们能够确定两个相关的非同义点突变的ND 3和ATP 6基因的特点是一个明确的关联与温度，这似乎是合理的目标自然选择产生的关联与气候。先前已经证明相同的突变与线粒体pH和钙动力学的变化相关。我们的研究结果表明，由气候介导的自然选择有助于塑造目前人类mtDNA序列的分布。
There is an ongoing discussion in the literature on whether human mitochondrial DNA (mtDNA) evolves neutrally. There have been previous claims for natural selection on human mtDNA based on an excess of non-synonymous mutations and higher evolutionary persistence of specific mitochondrial mutations in Arctic populations. However, these findings were not supported by the reanalysis of larger datasets. Using a geographical framework, we perform the first direct test of the relative extent to which climate and past demography have shaped the current spatial distribution of mtDNA sequences worldwide. We show that populations living in colder environments have lower mitochondrial diversity and that the genetic differentiation between pairs of populations correlates with difference in temperature. These associations were unique to mtDNA; we could not find a similar pattern in any other genetic marker. We were able to identify two correlated non-synonymous point mutations in the ND3 and ATP6 genes characterized by a clear association with temperature, which appear to be plausible targets of natural selection producing the association with climate. The same mutations have been previously shown to be associated with variation in mitochondrial pH and calcium dynamics. Our results indicate that natural selection mediated by climate has contributed to shape the current distribution of mtDNA sequences in humans.
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