Very low-level heteroplasmy mtDNA variations are inherited in humans.
Very low-level heteroplasmy mtDNA variations are inherited in humans.
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DOI：
10.1016/j.jgg.2013.10.003
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发表时间：
2013-12-20
影响因子：
5.9
通讯作者：
Shyr, Yu
中科院分区：
文献类型：
--
作者：
Guo, Yan;Li, Chung-I;Sheng, Quanhu;Winther, Jeanette F.;Cai, Qiuyin;Boice, John D.;Shyr, Yu
关键词：
很少有人知道非常低异质性线粒体DNA变异的遗传。即使随着新的下一代测序方法的发展，由于测序的固有噪声水平，测量的异质性的实际下限仍然是约1%。本研究利用Illumina高通量测序技术对44个个体的线粒体基因组进行测序，获得了高覆盖率的线粒体测序数据。我们的研究群体包含许多母子对。这种独特的研究设计使我们能够通过分析母系相关对和非相关对之间mtDNA序列中每个位置的突变水平的相关性来绕过通常的异质性限制。这项研究表明，非常低的异质性变异，下降到近0.1%，是母系遗传的，这种遗传开始减少约0.5%，相当于约200个mtDNA的瓶颈。
Little is known about the inheritance of very low heteroplasmy mitochondria DNA variations. Even with the development of new next-generation sequencing methods, the practical lower limit of measured heteroplasmy is still about 1% due to the inherent noise level of the sequencing. In this study, we sequenced the mitochondrial genome of 44 individuals using Illumina high-throughput sequencing technology and obtained high-coverage mitochondria sequencing data. Our study population contains many mother-offspring pairs. This unique study design allows us to bypass the usual heteroplasmy limitation by analyzing the correlation of mutation levels at each position in the mtDNA sequence between maternally related pairs and non-related pairs. The study showed that very low heteroplasmy variants, down to almost 0.1%, are inherited maternally and that this inheritance begins to decrease at about 0.5%, corresponding to a bottleneck of about 200 mtDNA.
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影响因子：
4.4
作者：
Guo Y;Li J;Li CI;Long J;Samuels DC;Shyr Y
通讯作者：
Shyr Y
DOI：
10.1073/pnas.95.5.2372
发表时间：
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影响因子：
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影响因子：
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作者：
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通讯作者：
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