The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studies.
The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studies.
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DOI：
10.1371/journal.pone.0001764
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发表时间：
2008-03-12
期刊：
影响因子：
3.7
通讯作者：
Bandelt, Hans-Juergen
中科院分区：
文献类型：
--
作者：
Achilli, Alessandro;Perego, Ugo A.;Bravi, Claudio M.;Coble, Michael D.;Kong, Qing-Peng;Woodward, Scott R.;Salas, Antonio;Torroni, Antonio;Bandelt, Hans-Juergen
直到最近，只有有限数量的属于美洲原住民单倍群的完整线粒体基因组序列可用，这使得美洲成为关于整个线粒体DNA序列变异的信息量最少的大陆。在这项研究中，通过修订分散在GenBank和文献中的信息，并增加了14个新的mtDNA序列，全面概述了四个泛美单倍群A2、B2、C1和D1的所有可用的完整线粒体DNA(MtDNA)基因组。单倍群A2、B2、C1和D1的系统发育图揭示了大量的亚单倍群，但表明伯林吉亚祖先(S)只为这些单倍群贡献了6个(成功的)创始人单倍型。使用传统的定标方法，得到的分支总体上是星状的，合并时间从18,000年到21,000年(有一个例外)。平均年龄约为19,000岁，与最近采用不同的校准和估计方法提出的约13,500岁的较低年龄形成了一定的对比。我们的估计表明，在最后一次冰川盛期达到顶峰后，泛美单倍群就进入并扩散到了美洲，这与南美洲最早的古印第安人无可争辩的年龄是一致的。此外，系统发育学方法还表明，针对各种mtDNA突变提出的致病状态是基于不充分的理由的，这些突变实际上定义了美洲原住民单倍群的分支。
Only a limited number of complete mitochondrial genome sequences belonging to Native American haplogroups were available until recently, which left America as the continent with the least amount of information about sequence variation of entire mitochondrial DNAs. In this study, a comprehensive overview of all available complete mitochondrial DNA (mtDNA) genomes of the four pan-American haplogroups A2, B2, C1, and D1 is provided by revising the information scattered throughout GenBank and the literature, and adding 14 novel mtDNA sequences. The phylogenies of haplogroups A2, B2, C1, and D1 reveal a large number of sub-haplogroups but suggest that the ancestral Beringian population(s) contributed only six (successful) founder haplotypes to these haplogroups. The derived clades are overall starlike with coalescence times ranging from 18,000 to 21,000 years (with one exception) using the conventional calibration. The average of about 19,000 years somewhat contrasts with the corresponding lower age of about 13,500 years that was recently proposed by employing a different calibration and estimation approach. Our estimate indicates a human entry and spread of the pan-American haplogroups into the Americas right after the peak of the Last Glacial Maximum and comfortably agrees with the undisputed ages of the earliest Paleoindians in South America. In addition, the phylogenetic approach also indicates that the pathogenic status proposed for various mtDNA mutations, which actually define branches of Native American haplogroups, was based on insufficient grounds.
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影响因子：
9.8
作者：
Carelli, V;Achilli, A;Torroni, A
通讯作者：
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