DNAmismatchrepairintrinucleotiderepeatinstability
摘要: Trinucleotiderepeatexpansionscauseover30severeneuromuscularandneurodegenerativedisorders,includingHuntingtonsdisease,myotonicdystrophytype1,andfragileXsyndrome.Althoughpreviousstudieshavesubstantiallyadvancedtheunderstandingofthediseasebiology,manykeyfeaturesremainunknown.DNAmismatchrepair(MMR)playsacriticalroleingenomemaintenancebyremovingDNAmismatchesgeneratedduringDNAreplication.However,MMRcomponents,particularlymismatchrecognitionproteinMutSβanditsinteractingfactorsMutLαandMutLγ,havebeenimplicatedintrinucleotiderepeatinstability.Inthisreview,wewilldiscusstherolesofthesekeyMMRproteinsinpromotingtrinucleotiderepeatinstability. ...
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