Very Low-Level Heteroplasmy mtDNA Variations Are Inherited in Humans

Yan Guo, Chung I. Li, Quanhu Sheng, Jeanette F. Winther, Qiuyin Cai, John D. Boice, Yu Shyr

研究成果: Article同行評審

36 引文 斯高帕斯(Scopus)


Little is known about the inheritance of very low heteroplasmy mitochondria DNA (mtDNA) 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.

頁(從 - 到)607-615
期刊Journal of Genetics and Genomics
出版狀態Published - 2013 十二月 20

All Science Journal Classification (ASJC) codes

  • 分子生物學
  • 遺傳學


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