Fig. 1: mtDNA heteroplasmic variants detected from whole-genome sequences.
From: Cell reprogramming shapes the mitochondrial DNA landscape
a Summary of bulk whole-genome (WGS), bulk RNA and single-cell RNA (scRNA) sequencing data analysed in this study. Colour represents the heterogeneity of cell populations under WGS and bulk RNA-seq, and three different cell stages under scRNAseq, where mesendo = mesoderm, and defendo = definitive endoderm. b Heteroplasmic variants detected from WGS. Circos plot from outside the circle to inside: (1) mtDNA position; (2) heteroplasmic variants identified in 141 iPSC lines; (3) minor allele frequency of common variants (MAF > 1%) in European population55; mtDNA genes (purple— D-loop, red—coding region, yellow—rRNAs and grey—tRNAs); (4) heteroplasmic variants identified in fibroblast cell lines; (5) blue lines pointing to the positions of variants specific in fibroblast cell lines; (6) orange lines pointing to the positions of pathogenic mutations; (2) & (4) vertical axes represent the HFs; (3) vertical axes represent the frequencies of single-nucleotide substitutions. c High resolution of mtDNA D-loop region. Plots from top to bottom: (1) mtDNA position; (2) decrease shift variants; (3) D-loop regions; (4) increase shift variants; (2) & (4) vertical axes represent heteroplasmic shifts.
