Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy.
Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy.
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具有多种线粒体 DNA 异质性的个体骨骼肌中线粒体 DNA 的重组。
DOI：
10.1038/ng1606
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发表时间：
2005
期刊：
影响因子：
30.8
通讯作者：
Kunz,WolframS
中科院分区：
文献类型：
--
作者：
Zsurka,Gabor;Kraytsberg,Yevgenia;Kudina,Tatiana;Kornblum,Cornelia;Elger,ChristianE;Khrapko,Konstantin;Kunz,WolframS
最近在一个父系遗传的个体和体外细胞培养系统中获得了人线粒体DNA（mtDNA）重组的实验证据。mtDNA重组是否是人类的常见事件仍有待确定。为了检测人骨骼肌线粒体DNA的重组，我们采用单细胞PCR和等位基因特异性PCR技术分析了线粒体DNA多重异质性个体的等位基因分布。在所有10个携带异质性D环突变和远处tRNA点突变或大缺失的个体中，我们观察到四个等位基因组合的混合物（四元体），这是重组的标志。12个14个严修紧密定位异质性D-环突变对包含只有三种类型的线粒体基因组的混合物（三体），与相邻标记之间的重组的情况下一致。这些发现表明mtDNA重组在人类骨骼肌中是常见的。
Experimental evidence for human mitochondrial DNA (mtDNA) recombination was recently obtained in an individual with paternal inheritance of mtDNA and in anin vitrocell culture system. Whether mtDNA recombination is a common event in humans remained to be determined. To detect mtDNA recombination in human skeletal muscle, we analyzed the distribution of alleles in individuals with multiple mtDNA heteroplasmy using single-cell PCR and allele-specific PCR. In all ten individuals who carried a heteroplasmic D-loop mutation and a distantly located tRNA point mutation or a large deletion, we observed a mixture of four allelic combinations (tetraplasmy), a hallmark of recombination. Twelve of 14 individuals with closely located heteroplasmic D-loop mutation pairs contained a mixture of only three types of mitochondrial genomes (triplasmy), consistent with the absence of recombination between adjacent markers. These findings indicate that mtDNA recombination is common in human skeletal muscle.