Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro.

ABSTRACT: As the powerhouses of the eukaryotic cell, mitochondria must maintain their genomes which encode proteins essential for energy production. Mitochondria are characterized by guanine-rich DNA sequences that spontaneously form unusual three-dimensional structures known as G-quadruplexes (G4). G4 structures can be problematic for the essential processes of DNA replication and transcription because they deter normal progression of the enzymatic-driven processes. In this study, we addressed the hypothesis that mitochondrial G4 is a source of mutagenesis leading to base-pair substitutions. Our computational analysis of 2757 individual genomes from two Italian population cohorts (SardiNIA and InCHIANTI) revealed a statistically significant enrichment of mitochondrial mutations within sequences cor

SUBMITTER: Butler TJ 

PROVIDER: S-EPMC7254849 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature