Members of the Epistasis Group Contribute to Mitochondrial Homologous Recombination and Double-Strand Break Repair in

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Mitochondria are the powerhouse of the cell, providing energy in the form of ATP. Several proteins required for the production of ATP are encoded in the mitochondrial genome, which is maintained independently from the nuclear genome. Mutations in mitochondrial DNA are responsible for several inherited diseases and are associated with certain cancers, neurological disorders, and aging. In human mtDNA, 90% of deletions, a specific type of mutation, are flanked by repetitive sequences. Deletions in this context are generally produced through homologous recombination, specifically single-strand annealing. For the first time, in this study we show that the proteins involved in nuclear homologous recombination, Rad51p, Rad52p, and Rad59p, also contribute to the formation of mitochondrial deletions. Our data also suggest a novel mitochondrial-specific role for Rad51p in the generation of this type of deletion. Further study of these repair pathways allows us to garner a better understanding of these processes that are involved in disease pathologies and aging.

Vyšlo v časopise: Members of the Epistasis Group Contribute to Mitochondrial Homologous Recombination and Double-Strand Break Repair in. PLoS Genet 11(11): e32767. doi:10.1371/journal.pgen.1005664
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005664

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