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Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model.

Authors:
Chloe F Moss Ilaria Dalla Rosa Lilian E Hunt Takehiro Yasukawa Robert Young Aleck W E Jones Kaalak Reddy Radha Desai Sam Virtue Greg Elgar Peter Voshol Martin S Taylor Ian J Holt Martin A M Reijns Antonella Spinazzola

Nucleic Acids Res 2017 Dec;45(22):12808-12815

MRC Laboratory, Mill Hill, London NW7 1AA, UK.

All DNA polymerases misincorporate ribonucleotides despite their preference for deoxyribonucleotides, and analysis of cultured cells indicates that mammalian mitochondrial DNA (mtDNA) tolerates such replication errors. However, it is not clear to what extent misincorporation occurs in tissues, or whether this plays a role in human disease. Here, we show that mtDNA of solid tissues contains many more embedded ribonucleotides than that of cultured cells, consistent with the high ratio of ribonucleotide to deoxynucleotide triphosphates in tissues, and that riboadenosines account for three-quarters of them. The pattern of embedded ribonucleotides changes in a mouse model of Mpv17 deficiency, which displays a marked increase in rGMPs in mtDNA. However, while the mitochondrial dGTP is low in the Mpv17-/- liver, the brain shows no change in the overall dGTP pool, leading us to suggest that Mpv17 determines the local concentration or quality of dGTP. Embedded rGMPs are expected to distort the mtDNA and impede its replication, and elevated rGMP incorporation is associated with early-onset mtDNA depletion in liver and late-onset multiple deletions in brain of Mpv17-/- mice. These findings suggest aberrant ribonucleotide incorporation is a primary mtDNA abnormality that can result in pathology.

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http://dx.doi.org/10.1093/nar/gkx1009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728394PMC
December 2017

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