PMS2 has both pro-mutagenic and anti-mutagenic effects on repeat instability in the Repeat Expansion Diseases
Alexandra Walker,
Diego Antonio Jimenez,
Karen Usdin
et al.
Abstract:Genome Wide Association studies (GWAS) have implicated PMS2 as a modifier of somatic expansion in Huntington’s disease (HD), one of >45 known Repeat Expansion Diseases (REDs). PMS2 is a subunit of the MutLα complex, a major component of the mismatch repair (MMR) system, a repair pathway that is involved in the generation of expansions in many different REDs. However, while MLH3, a subunit of a second MutL complex, MutLγ, is required for all expansions, PMS2 has been shown to protect against expansion in som… Show more
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