Fig. 1: Clonal dynamics of mitochondrial mutations.
From: Mitochondrial clonal mosaicism encodes a biphasic molecular clock of aging
a, A schematic illustrating the accumulation and proliferation of mtDNA variants over time, with each color representing a unique mitochondrial clone. Created with BioRender.com. b, A heatmap showcasing the mitochondrial clonal structure across individual cells of the pancreas (an example derived from reanalysis of data from ref. 64), where each column represents a cell, and row shading indicates variant abundance. The cumulative abundance of each variant across all cells is also shown, reflecting the expected heteroplasmy value in bulk sequencing data. c, A schematic overview of the workflow for calling somatic variants from 47 tissues collected from 838 GTEx donors aged 20–70 years. Created with BioRender.com. d, Typical examples of mitochondrial mutations and clonal expansion among samples from the GTEx cohort. Each row represents a specific mitochondrial variant, and the colored dots indicate the variant’s abundance (heteroplasmy) in different tissues of that individual. The color scheme for tissues follows the GTEx conventions specified in Extended Data Fig. 2. e, The average mitochondrial RNA read coverage across tissues. The plot illustrates the distribution of RNA-seq read coverage across the mitochondrial genome in representative tissues (liver, esophageal mucosa and whole blood), highlighting regions excluded from variant calling owing to low coverage or the presence of known artifacts (tRNA, NUMTs, gene boundaries and so on). f, The number of variant sites by substitution type and functional category.
