Fig. 2: Mutational processes as transitions in repeat tract length. | Nature Communications

Fig. 2: Mutational processes as transitions in repeat tract length.

From: Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths

Fig. 2

a Distinct mutational processes, using the example of transitions to and from repeat tract length L = 6. ‘A’ represents a given STR motif; ‘B’ represents any other sequence with length equal to A. Arrows indicate mutations, either substitutions (left) or indels (right), that affect the length of A repeat tract(s). Mutations can lengthen/shorten (top) or interrupt/rejoin (bottom) repeat tracts. The latter we term repeat 'fission’ and ‘fusion,’ respectively. b Depiction of the same mutational processes as length transitions in the DRL. Lengthening/shortening mutations increase or decrease length by one unit (‘local’ transitions) and maintain the same total count of repeats (‘conservative’), while fission/fusion processes are non-local and non-conservative.

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