Figure 2.

The positioning of the breakpoints in the presence of direct repeats. (A) The precise location of the 5′ and 3′ breakpoints is unknown for several reported mtDNA rearrangements because of the presence of direct repeats (underlined, bold letters). (B) When only one copy of the direct repeat is maintained, the 5′ and 3′ breakpoints were placed downstream (on the right) of the homology, according to the L-strand numbering. (C) Representation of the possible number of direct repeats (DR) retained in the rearrangement junction of mtDNA deletions and duplications. When the breakpoints are located in a DR, the resulting junction sequence can retain 0, 1 or 2 copies of the repeated motif (green box).