现代智人染色体中存在源自古尼安德特人线粒体的DNA序列

Living fossils unearthed by blasting human chromosomes with Neanderthal mtDNA

  • 摘要: 古尼安德特人部分线粒体DNA测序成功,一定程度上终结了早期人类有关走出非洲与多中心起源的争论。 但由于缺乏尼安德特人的染色体基因组序列,其线粒体DNA在古人类学领域的重要价值受到了限制。本研究引入核化线粒体组学分析法将线粒体DNA视为转基因和将人设定为转基因人。采用已有尼安德特人的线粒体DNA比对现代智人的基因组DNA,得到40段同源性较高片段。其中5个片段与尼安德特人的同源性高于现代智人线粒体DNA且含有尼安德特人特有的单倍体序列。当将数据库中不同尼安德特人个体的线粒体DNA序列作为一个整体与现代智人线粒体DNA作为另一个整体比对时,高于98% 的基因相似度不但说明已有尼安德特人线粒体序列是分析尼安德特人的有用数据,同时也说明尼安德特人与现代智人在进化上的近亲关系。

     

    Abstract: The successful retrieval of ancient mitochondrial DNA (mtDNA) from Neanderthals provides powerful experimental evidence that clarifies the arguments between the out-of-Africa and multiregional models of evolution. However, the lack of nuclear DNA from Neanderthal fossils and mtDNA of early modern human fossils dating back to approximately the same time in the Pleistocene constitutes a limitation that may compromise the significance of mtDNA phylogenetic analysis. In this report, we introduce a mitochromic analysis using Neanderthal mtDNA as a foreign transgene and humans as a naturally occurring transgenic species. Forty Neanderthal mtDNA retrievable nuclear fragments were identified by blasting human genome data with Neanderthal mtDNA. Five of the 40 fragments exhibited higher correlation with Neanderthal mtDNA than those with modern human mtDNA. Furthermore, these five nuclear fragments harbor Neanderthal mtDNA-unique haplotypes. Based on the 98%+ identity between Neanderthal and modern human mtDNA when compared by groups, we suggest that some of the modern human nuclear fragments retrieved using Neanderthal mtDNA may aid in decoding Neanderthal genetic information, and also may simultaneously demonstrate a close genetic evolutionary relationship between modern humans and Neanderthals.

     

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