Investigation of Heteroplasmy in the Human Mitochondrial DNA Control Region: A Synthesis of Observations from More Than 5000 Global Population Samples |
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Authors: | Jodi A Irwin Jessica L Saunier Harald Niederstätter Katharine M Strouss Kimberly A Sturk Toni M Diegoli Anita Brandstätter Walther Parson Thomas J Parsons |
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Institution: | 1. Research Department, Armed Forces DNA Identification Laboratory, 1413 Research Blvd., Rockville, MD, 20850, USA 2. Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria 3. Seattle Biomedical Research Institute, 307 Westlake Avenue North, Seattle, WA, 98109, USA 4. Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria 5. International Commission on Missing Persons, Alipa?ina 45 A, 71000, Sarajevo, Bosnia and Herzegovina
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Abstract: | Instances of point and length heteroplasmy in the mitochondrial DNA control region were compiled and analyzed from over 5,000
global human population samples. These data represent observations from a large and broad population sample, representing
nearly 20 global populations. As expected, length heteroplasmy was frequently observed in the HVI, HVII and HVIII C-stretches.
Length heteroplasmy was also observed in the AC dinucleotide repeat region, as well as other locations. Point heteroplasmy
was detected in approximately 6% of all samples, and while the vast majority of heteroplasmic samples comprised two molecules
differing at a single position, samples exhibiting two and three mixed positions were also observed in this data set. In general,
the sites at which heteroplasmy was most commonly observed correlated with reported control region mutational hotspots. However,
for some sites, observations of heteroplasmy did not mirror established mutation rate data, suggesting the action of other
mechanisms, both selective and neutral. Interestingly, these data indicate that the frequency of heteroplasmy differs between
particular populations, perhaps reflecting variable mutation rates among different mtDNA lineages and/or artifacts of particular
population groups. The results presented here contribute to our general understanding of mitochondrial DNA control region
heteroplasmy and provide additional empirical information on the mechanisms contributing to mtDNA control region mutation
and evolution.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. |
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Keywords: | Control region Heteroplasmy Mitochondrial DNA Mutation rate |
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