强大的NUMT:线粒体DNA在核基因组中曲其代码
Liying Xue1, Jesse D Moreira2, Karan K Smith1
1Evans Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA 02118, USA.
Biomolecules
|May 27, 2023
概括
核线粒体DNA片段 (NUMT) 是线粒体DNA片段,可以插入到核基因组中. 本综述涵盖了NUMT的流行,形成以及在遗传研究中最小化其污染的方法.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- 核线粒体DNA片段 (NUMT) 是核基因组中集成的线粒体DNA (mtDNA) 的片段.
- NUMT的尺寸和分布各不相同,其中一些在种群中很常见,而另一些则很罕见和特定于个体.
- 在人类中,NUMT的形成是一个持续的过程,对遗传研究构成挑战.
研究的目的:
- 审查人类人口中NUMT的流行和形成机制.
- 概述目前在mtDNA测序中最小化NUMT污染的方法.
- 要突出NUMT对异质变体检测的影响.
主要方法:
- 关于NUMT流行,形成和检测方法的文献综述.
- 讨论湿实验室和计算方法,以减轻NUMT污染.
- 目前NUMT检测和过策略的分类.
主要成果:
- NUMTs是普遍存在的,并且可以是个体特异性的,污染mtDNA测序数据.
- 新出现的证据表明, de novo NUMT 插入是通过 DNA 修复机制发生的.
- 为了有效识别NUMT,需要多种方法,包括线粒体隔离和生物信息选.
结论:
- NUMT污染可以导致假阳性变异,特别是在低变异异基因频率 (VAF) 时.
- 有效的NUMT管理需要实验室和计算策略的结合.
- 仔细处理NUMT对于使用下一代测序的精确线粒体遗传学研究至关重要.
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