Extended Data Fig. 9: Comparison of mutational signatures in nuclear and mitochondrial genomes across normal and tumor tissues.
From: Mitochondrial clonal mosaicism encodes a biphasic molecular clock of aging
COSMIC mutational signatures were determined using the SigProfileAssignment tool on TCGA tumor samples and GTEx normal tissues. For GTEx sun-exposed skin, samples were stratified into L and non-L groups based on their mitochondrial haplogroup. While nuclear genomes exhibit established COSMIC signatures, reflecting various mutagenic processes, mitochondrial genomes display distinct mutational spectra dominated by C > T and T > C transitions, with no typical tobacco and UV mutational signatures even in lung and skin cancer.
