Consequences of MGME1 and POLG EXO nucleases Deficiencies for mtDNA Integrity

Here we show that mtDNA has a series of abnormalities in Mgme1 knock out (Mgme1 KK) and POLG exonuclease deficient Mutator (Polg MM) mouse hearts. Next generation sequencing of mutant hearts showed abundant duplications in the D-loop region and unique 100bp duplications evenly spaced throughout the genome in Mgme1 KK hearts.