Shi Huizhen, Xing Yutong, Mao Xiuguang
Institute of Estuarine and Coastal Research, East China Normal University, Shanghai 200062, China.
Institute of Estuarine and Coastal Research, East China Normal University, Shanghai 200062, China.
Gene. 2017 Sep 20;629:64-67. doi: 10.1016/j.gene.2017.07.065. Epub 2017 Jul 25.
Nuclear mitochondrial DNA sequences (NUMTs) have been documented in almost all eukaryotic genomes studied. Recently, with the number of sequenced genomes increasing, extremely large NUMTs, even a nearly entire mitochondrial genome, have been reported in some plants and animals. However, few such studies provided strong experimental evidences for these important discoveries. In this study using a computer-based search method an entire mitochondrial genome (NUMT-1) was found in the nuclear genome of a bat species (Myotis lucifugus). This super-large NUMT shared a same scaffold with a 754bp nuclear genomic sequence and a second NUMT (NUMT-2, 3292bp). If NUMT-1 was real, it will be the largest NUMT found in animals and this finding will provide valuable insights into the mode of generation of NUMTs in the nuclear genome. Unfortunately, although the initial sequencing technology of the published M. lucifugus genome makes the possibility of artifact less likely, our results from both the PCR amplification followed by Sanger sequencing and mapping method based on the whole-genome resequencing datasets suggested that the scaffold containing the entire mitochondrial genome was artifact possibly due to a misassembly of mitochondrial and the nuclear DNA sequences. Our current study highlights the necessity to validate the authenticity of extremely large NUMTs identified in previous searches on whole-genome sequence assemblies.
几乎在所有已研究的真核生物基因组中都记录到了核线粒体DNA序列(NUMTs)。最近,随着测序基因组数量的增加,在一些植物和动物中报道了极大的NUMTs,甚至是几乎完整的线粒体基因组。然而,很少有此类研究为这些重要发现提供有力的实验证据。在本研究中,使用基于计算机的搜索方法,在一种蝙蝠物种(棕蝠)的核基因组中发现了一个完整的线粒体基因组(NUMT-1)。这个超大的NUMT与一个754bp的核基因组序列以及第二个NUMT(NUMT-2,3292bp)共享一个支架。如果NUMT-1是真实的,它将是在动物中发现的最大的NUMT,这一发现将为核基因组中NUMTs的产生模式提供有价值的见解。不幸的是,尽管已发表的棕蝠基因组的初始测序技术降低了人为假象的可能性,但我们通过PCR扩增后进行桑格测序以及基于全基因组重测序数据集的定位方法得到的结果表明,包含完整线粒体基因组的支架可能是人为假象,这可能是由于线粒体和核DNA序列的错误组装所致。我们目前的研究强调了验证在先前全基因组序列组装搜索中鉴定出的极大NUMTs真实性的必要性。