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There was no significant difference in the mutation loads observed at the three sites (Friedman test P = 0.36).
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These estimations are comparable to or higher than the mutation loads we observe with smPCR and RMC and may interfere with mutational analysis, even when making comparative measurements.
To clarify whether mtDNA mutation loads and profiles could contribute to the observed iPSC findings, we used next-generation sequencing and sequenced the whole mitochondrial genome of the parental MEFs and iPSCs of early and late passages.
These important findings support the primary importance of mtDNA mutations in the changes observed in cardiac morphology, and may support more intensive cardiac evaluation of patients with higher mutation loads and/or NMDAS scores.
We found no association between mutation load and mutagen dose and observed no sequence bias in the residues flanking the mutated purine base.
In the patient the mutation loads varied merely between 89 100%.
For intermediate and high mutation rates, the average absolute mutation loads across all age classes were 0.438 and 1.07, respectively.
Only liver and pancreas had lower mutation loads of 67 and 73%, respectively.
In the past such tissue-specificity could not be explained by varying mtDNA mutation loads.
At the same time, sexual selection may reduce mutation load if females choose to mate with males with relatively low mutation loads [21] [23] or if male fitness is more greatly affected than female fitness by deleterious mutations [24].
Lineages are colored according to their deleterious mutation loads.
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