Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
The Wellcome Centre for Mitochondrial Research, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.
Mitochondrion. 2019 May;46:302-306. doi: 10.1016/j.mito.2018.08.003. Epub 2018 Aug 9.
The mitochondrial genome has recently become the focus of several high-impact next-generation sequencing studies investigating the effect of mutations in disease and assessing the efficacy of mitochondrial replacement therapies. However, these studies have failed to take into consideration the capture of recurring translocations of mitochondrial DNA to the nuclear genome, known as nuclear mitochondrial sequences (NUMTs), continuing to align sequence data to the revised Cambridge reference sequence alone. Here, using different mtDNA enrichment techniques and a variety of tissues, we demonstrate that NUMTs are present in sequence data and that, dependent upon downstream analysis, are at a level which affects variant calling.
线粒体基因组最近成为了几个具有高影响力的下一代测序研究的焦点，这些研究旨在探讨突变对疾病的影响，并评估线粒体替换疗法的疗效。然而，这些研究都没有考虑到线粒体 DNA 到核基因组的反复易位（称为核线粒体序列，NUMTs）的捕获，仍然只是单独将序列数据与修订后的剑桥参考序列进行比对。在这里，我们使用不同的 mtDNA 富集技术和各种组织，证明了 NUMTs 存在于序列数据中，并且根据下游分析，其存在的程度会影响变体的调用。
