Mitogroup: continent-specific clusters of mitochondrial OXPHOS complexes based on nuclear non-synonymous polymorphisms

OXPHOS polymorphisms are known to be population specific and to influence disease. Previous studies have focused on mtDNA polymorphisms. Based on a world sampling of 629 unrelated individuals, we have now studied the polymorphisms of the 80 genes encoding OXPHOS nuclear subunits. We have shown that (i) amino-acid replacement frequencies are significantly correlated with their pathogenicity probability, and (ii) populations can be distinguished based only on amino-acid replacements in nuclear encoded OXPHOS subunits. These results are congruent with the major mtDNA haplogroups, which suggests that OXPHOS complexes are different across the populations in both nuclear and in mitochondrial encoded subunits.