Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks.

ABSTRACT: Typically disease-causing CAG/CTG repeats expand, but rare affected families can display high levels of contraction of the expanded repeat amongst offspring. Understanding instability is important since arresting expansions or enhancing contractions could be clinically beneficial. The MutSβ mismatch repair complex is required for CAG/CTG expansions in mice and patients. Oddly, by unknown mechanisms MutSβ-deficient mice incur contractions instead of expansions. Replication using CTG or CAG as the lagging strand template is known to cause contractions or expansions respectively; however, the interplay between replication and repair leading to this instability remains unclear. Towards understanding how repeat contractions may arise, we performed in vitro SV40-mediated replication of repeat-co

SUBMITTER: Slean MM 

PROVIDER: S-EPMC5096786 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature