Extended Data Fig. 11: Mitochondrial genome dsDNA mutation rates, similarity between SBS30ss* and mitochondrial genome heavy strand A > G dsDNA mutations, and mitochondrial ssDNA call spectra.
From: DNA mismatch and damage patterns revealed by single-molecule sequencing
a, Mitochondrial dsDNA mutation burdens versus age in liver and kidney samples, including liver samples from which mitochondria were enriched. Dashed lines: weighted least-squares linear regression. Shaded ribbon: 95% confidence interval. b, SBS30ss* (cytosine deamination) spectrum is projected to central pyrimidine trinucleotide contexts and compared to mitochondria heavy strand A > G dsDNA mutation spectrum (corrected for trinucleotide context opportunities), for different sample sets: (i) HiDEF-seq liver and kidney samples, including liver samples from which mitochondria were enriched (i.e., same set of samples in Fig. 5a, c and Extended Data Fig. 11a); (ii) 5697 purified liver mitochondria samples only (plot includes 89% of the mutations in (i)); (iii) Sample set (i), excluding the 5697 purified liver mitochondria samples (plot includes 11% of the mutations in (i)). Note, the contexts of SBS30ss* are matched with the reverse complement flanking base contexts of mitochondria heavy strand A > G mutations. The number of dsDNA A > G mutations is indicated. c, Spectrum of mitochondrial ssDNA calls combined from the liver and kidney samples shown in Fig. 5a, c and Extended Data Fig. 11a. The spectrum is corrected for trinucleotide context opportunities, separately for each strand. See Fig. 5d for a spectrum that includes bulk (i.e., non-mitochondria enriched) samples profiled by HiDEF-seq with A-tailing. a, Dots and error bars: point estimates and their Poisson 95% confidence intervals.
