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. 2022 Oct 5;611(7934):105–114. doi: 10.1038/s41586-022-05288-7

Extended Data Fig. 8. NUMT nuclear breakpoints, relation to PRDM9 binding sites, and NUMT age.

Extended Data Fig. 8

a. Frequencies of trinucleotides around germline NUMTs breakpoints. The breakpoints of nuclear genome are shown at the top and mtDNA genomes at the bottom, common&rare, ultra-rare NUMTs and the expected frequencies shown in the different colours. Trinucleotides of breakpoint flanks more likely occurred in nCC/CCn on mtDNA genome and less likely in nTT/TT on both nuclear and mtDNA genomes, particularly for ultra-rare NUMTs. The same trend was not seen in the tumour-specific NUMTs (b), indicating the signal is driven by biology, but not the sequencing artefacts. b. Frequencies of trinucleotides around tumour-specific NUMTs breakpoints in the nuclear genome (top) and mtDNA genomes (bottom), tumour-specific NUMTs and the expected frequencies shown in the different colours. P values # < 0.1, * < 0.05, < 0.01 **, < 0.001 ***, < 0.0001 **** (two-sided Fisher’s exact test) (Supplementary Table 6). c. Distribution of the distance between PRDM9 binding sites and tumour-specific NUMTs within each tumour type. d. Age of NUMTs estimated in this study. Y axis shows the frequencies of NUMTs in African and non-African populations. The frequencies of NUMTs were different between African and non-African, particularly for the older NUMTs which were more common seen in African population.