Koo Dal-Hoe, Singh Bhupendra, Jiang Jiming, Friebe Bernd, Gill Bikarm S, Chastain Paul D, Manne Upender, Tiwari Hemant K, Singh Keshav K
Wheat Genetics Resources Center, Department of Plant Pathology, Throckmorton Plant Sciences Center, Kansas State University, Manhattan, KS 66506, United States.
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, United States.
Anal Biochem. 2018 Jul 1;552:45-49. doi: 10.1016/j.ab.2017.03.015. Epub 2017 Mar 18.
Somatic human cells contain thousands of copies of mitochondrial DNA (mtDNA). In eukaryotes, natural transfer of mtDNA into the nucleus generates nuclear mitochondrial DNA (NUMT) copies. We name this phenomenon as "numtogenesis". Numtogenesis is a well-established evolutionary process reported in various sequenced eukaryotic genomes. We have established a molecular tool to rapidly detect and analyze NUMT insertions in whole genomes. To date, NUMT analyses depend on deep genome sequencing combined with comprehensive computational analyses of the whole genome. This is time consuming, cumbersome and cost prohibitive. Further, most laboratories cannot accomplish such analyses due to limited skills. We report the development of single-molecule mtFIBER FISH (fluorescence in situ hybridization) to study numtogenesis. The development of mtFIBER FISH should aid in establishing a role for numtogenesis in cancers and other human diseases. This novel technique should help distinguish and monitor cancer stages and progression, aid in elucidation of basic mechanisms underlying tumorigenesis and facilitate analyses of processes related to early detection of cancer, screening and/or cancer risk assessment.
人体体细胞含有数千份线粒体DNA（mtDNA）拷贝。在真核生物中，mtDNA向细胞核的自然转移会产生核线粒体DNA（NUMT）拷贝。我们将这种现象命名为“NUMT形成”。NUMT形成是一个在各种已测序真核生物基因组中都有报道的既定进化过程。我们已经建立了一种分子工具，用于快速检测和分析全基因组中的NUMT插入。到目前为止，NUMT分析依赖于深度基因组测序以及对全基因组的综合计算分析。这既耗时、繁琐又成本高昂。此外，由于技能有限，大多数实验室无法完成此类分析。我们报告了用于研究NUMT形成的单分子mtFIBER FISH（荧光原位杂交）技术的开发。mtFIBER FISH技术的开发应有助于确定NUMT形成在癌症和其他人类疾病中的作用。这项新技术应有助于区分和监测癌症阶段及进展，有助于阐明肿瘤发生的基本机制，并促进与癌症早期检测、筛查和/或癌症风险评估相关过程的分析。
