Fig. 4.

Predicted fork stalling and template switching (FoSTeS)/microhomology-mediated break-induced replication (MMBIR) mechanism of the Ex2-5dup mutation in subject ID6. Upon replicating, the first exon of the PARK2 gene replication fork stalled and one strand invaded either the sister molecule or the homologue chromosome in inverted orientation (1), resulting in inverted duplication. Subsequently, the original forks were restored, but primed upstream of the point where it first stalled (2), resulting in triplication of the grey-highlighted region