Figure 2.

Gene-specific negative selection of mtDNA mutations. (A) Quantification of non-synonymous mtDNA mutations in genes encoding OXPHOS complexes I, III, IV, and V in PolG^mut/wt female SFs (Mother, n = 20) and their MII oocytes (MII, n = 81) and PolG^wt/wt pup SFs (Pup, n = 20). (B) Germline transmission of non-synonymous mtDNA mutations in mt-Nd4l, mt-Nd5, mt-CoxI, mt-CoxII, mt-CoxIII, and mt-Atp6 measured in PolG^mut/wt female SFs (Mother, n = 20) and their MII oocytes (MII, n = 81) and PolG^wt/wt pup SFs (Pup, n = 20). (C) Quantification of non-synonymous protein-coding mutations with different heteroplasmy levels in PolG^mut/wt female SFs (Mother, n = 20) and their MII oocytes (MII, n = 81) and PolG^wt/wt pup SFs (Pup, n = 20). Heteroplasmy levels were grouped into high (≥50%), moderate (10-49%), and low (≤10%) groups. In A–C, error bars are mean ± SEM; ns denotes P ≥ 0.05.