Key result
Mitochondrial co-mutation analysis reveals subpopulation biases favor gene-specific epistasis clustered in known haplogroups.
Why the study?
Investigation of human mitochondrial genome variation provides insights into human history and natural selection, motivating the study of characteristic evolutionary patterns across subpopulations.
Observational (n=24,167)
Subpopulation-based biases may favor mitochondrial gene-specific epistasis, highlighting different co-mutation patterns across human populations.
Subpopulation biases warrant ancestry-aware mitochondrial variant analysis; leaves open effects on clinical phenotypes.
Investigation of human mitochondrial (mt) genome variation has been shown to provide insights to the human history and natural selection. By analyzing 24,167 human mt-genome samples, collected for five continents, we have developed a co-mutation network model to investigate characteristic human evolutionary patterns. The analysis highlighted richer co-mutating regions of the mt-genome, suggesting the presence of epistasis. Specifically, a large portion of COX genes was found to co-mutate in Asian and American populations, whereas, in African, European, and Oceanic populations, there was greater co-mutation bias in hypervariable regions. Interestingly, this study demonstrated hierarchical modularity as a crucial agent for these co-mutation networks. More profoundly, our ancestry-based co-mutation module analyses showed that mutations cluster preferentially in known mitochondrial haplogroups. Contemporary human mt-genome nucleotides most closely resembled the ancestral state, and very few of them were found to be ancestral-variants. Overall, these results demonstrated that subpopulation-based biases may favor mitochondrial gene specific epistasis.
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A 2018 study conducted an observational in Mitochondrial genome variation (n=24,167). Mitochondrial epistatic interactions was evaluated on Co-mutation network modularity and epistatic interactions. Mitochondrial co-mutation network analysis of 24,167 genomes demonstrated that subpopulation-based biases favor gene-specific epistasis, with mutations clustering preferentially in known haplogroups.
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