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J Genet Genomics. 2013 Dec 20;40(12):607-15. doi: 10.1016/j.jgg.2013.10.003. Epub 2013 Dec 8.

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

Author information

  • 1Vanderbilt Ingram Cancer Center, Center for Quantitative Sciences, Nashville, TN 37232, USA. Electronic address: yan.guo@vanderbilt.edu.
  • 2Department of Applied Mathematics, Chiayi University (NCYU), Chiayi 60004, Taiwan, China.
  • 3Vanderbilt Ingram Cancer Center, Center for Quantitative Sciences, Nashville, TN 37232, USA.
  • 4Institute of Cancer Epidemiology, Danish Cancer Society, Copenhagen DK-2100, Denmark.
  • 5Vanderbilt Epidemiology Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
  • 6National Council on Radiation Protection & Measurements, Bethesda, MD 20814, USA.
  • 7Vanderbilt Ingram Cancer Center, Center for Quantitative Sciences, Nashville, TN 37232, USA. Electronic address: yu.shyr@vanderbilt.edu.

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.

Copyright © 2013. Published by Elsevier Ltd.

KEYWORDS:

Bottleneck; Heteroplasmy; High-depth sequencing; Maternal inheritance; Next-generation sequencing; mtDNA mutations

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