Dipartimento di Biologia e Biotecnologie L. Spallanzani, Università di Pavia, Pavia, Italy.
PLoS One. 2013 Jul 31;8(7):e70492. doi: 10.1371/journal.pone.0070492. Print 2013.
The current human mitochondrial (mtDNA) phylogeny does not equally represent all human populations but is biased in favour of representatives originally from north and central Europe. This especially affects the phylogeny of some uncommon West Eurasian haplogroups, including I and W, whose southern European and Near Eastern components are very poorly represented, suggesting that extensive hidden phylogenetic substructure remains to be uncovered. This study expanded and re-analysed the available datasets of I and W complete mtDNA genomes, reaching a comprehensive 419 mitogenomes, and searched for precise correlations between the ages and geographical distributions of their numerous newly identified subclades with events of human dispersal which contributed to the genetic formation of modern Europeans. Our results showed that haplogroups I (within N1a1b) and W originated in the Near East during the Last Glacial Maximum or pre-warming period (the period of gradual warming between the end of the LGM, ∼19 ky ago, and the beginning of the first main warming phase, ∼15 ky ago) and, like the much more common haplogroups J and T, may have been involved in Late Glacial expansions starting from the Near East. Thus our data contribute to a better definition of the Late and postglacial re-peopling of Europe, providing further evidence for the scenario that major population expansions started after the Last Glacial Maximum but before Neolithic times, but also evidencing traces of diffusion events in several I and W subclades dating to the European Neolithic and restricted to Europe.
目前的人类线粒体(mtDNA)系统发育并不能平等地代表所有人类群体,而是偏向于最初来自北欧和中欧的代表。这尤其影响了一些罕见的西欧亚单倍群(haplogroup)的系统发育,包括 I 和 W,它们的南欧和近东成分代表非常不足,这表明还有广泛的隐藏的系统发育亚结构有待发现。本研究扩展并重新分析了现有的 I 和 W 完整 mtDNA 基因组数据集,共获得了 419 个线粒体基因组,并搜索了它们新鉴定的众多亚分支的年龄和地理分布与人类扩散事件之间的精确相关性,这些事件促成了现代欧洲人的遗传形成。我们的结果表明,单倍群 I(属于 N1a1b)和 W 起源于末次冰盛期或变暖前时期(末次冰期结束后,约 19 千年前,到第一次主要变暖期开始,约 15 千年前的逐渐变暖时期)的近东地区,与更为常见的单倍群 J 和 T 一样,可能参与了从近东开始的末次冰期后的扩张。因此,我们的数据有助于更好地定义欧洲的末次冰期后和冰后期的重新填充,为主要人口扩张始于末次冰期之后新石器时代之前的情景提供了进一步的证据,同时也证明了几个 I 和 W 亚群的扩散事件发生在欧洲新石器时代,且仅限于欧洲。