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Very low-level heteroplasmy mtDNA variations are inherited in humans.

ABSTRACT: 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.

SUBMITTER: Guo Y

PROVIDER: S-EPMC4149221 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature

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Very low-level heteroplasmy mtDNA variations are inherited in humans.

Guo Yan Y Li Chung-I CI Sheng Quanhu Q Winther Jeanette F JF Cai Qiuyin Q Boice John D JD Shyr Yu Y

Journal of genetics and genomics = Yi chuan xue bao 20131208 12

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 ...[more]

PMID: 24377867

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