《生命科学》 2019, 31(9): 931-939
摘 要:摘 要:核内线粒体DNA 片段(nuclear mitochondrial DNA segments, Numts) 给线粒体DNA 的研究和应用带来了严重干扰,因而备受广大学者的关注。国内外学者在Numts 的检测方面做了大量的研究。尤其是近年来,随着大量基因组数据的积累,相关研究不再局限于研究特定线粒体基因的核内同源片段,而是拓展到基因组水平上比较不同物种的Numts 含量和分布,物种内部Numts 的多态性也日益被研究者重视。该文从Numts 的形成机制、检测方法、数量和分布对线粒体DNA 研究的干扰及排除方法等方面进行了总结与归纳,也对Numts 的研究意义与未来的发展趋势进行了简要分析。
Abstract: Abstract: Nuclear mitochondrial DNA segments (Numts) attract much attention because they can seriously mislead studies involving mitochondrial DNA. Researchers have carried out numerous works on how to detect Numts. Especially, with advances in sequencing technology and accumulation of whole genome sequences in the past decade, studies are no longer limited to studying Numts for a few particular mtDNA genes, instead, more and more studies are focusing on genome-level cross-species comparison and with-in population polymorphism. Here, we systematically summarizes Numts’ formation mechanism, detection methods, quantity and distribution on genome, as well as the interference they brought to mitochondrial DNA research and applicable elimination methods. We also discussed the research significance and future research direction in the field.