Center for Human Identification, University of North Texas Health Science Center, 3500 Camp Bowie Boulevard, Fort Worth, TX 76107, USA; Department of Microbiology, Immunology, and Genetics, University of North Texas Health. Science Center, 3500 Camp Bowie Boulevard, Fort Worth, TX 76107, USA.
Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria.
Mitochondrion. 2020 Nov;55:122-133. doi: 10.1016/j.mito.2020.09.001. Epub 2020 Sep 17.
Nuclear mitochondrial DNA segments (NUMTs) are generated via transfer of portions of the mitochondrial genome into the nuclear genome. Given their common origin, there is the possibility that both the mitochondrial and NUMT segments may co-amplify using the same set of primers. Thus, analysis of the variation of the mitochondrial genome must take into account this co-amplification of mitochondrial and NUMT sequences. The study herein builds on data from the study by Strobl et al. (Strobl et al., 2019), in which multiple point heteroplasmies were called with an "N" to prevent labeling NUMT sequences mimicking mitochondrial heteroplasmy and being interpreted as true mitochondrial in origin sequence variants. Each of these point heteroplasmies was studied in greater detail, both molecularly and bioinformatically, to determine whether NUMT or true mitochondrial DNA variation was present. The bioinformatic and molecular tools available to help distinguish between NUMT and mitochondrial DNA and the effect of NUMT sequences on interpretation were discussed.
核线粒体 DNA 片段（NUMTs）是通过将线粒体基因组的部分转移到核基因组中而产生的。鉴于它们的共同起源，线粒体和 NUMT 片段有可能使用相同的引物进行共同扩增。因此，线粒体基因组变异的分析必须考虑到线粒体和 NUMT 序列的这种共同扩增。本研究基于 Strobl 等人的研究数据（Strobl 等人，2019 年），其中使用“N”来标记多个点异质性，以防止标记 NUMT 序列模拟线粒体异质性并被解释为真正起源于线粒体的序列变体。对每个点异质性进行了更详细的分子和生物信息学研究，以确定存在 NUMT 或真正的线粒体 DNA 变异。讨论了可用于帮助区分 NUMT 和线粒体 DNA 的生物信息学和分子工具，以及 NUMT 序列对解释的影响。
