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Identification Of Activities Involved In Cag/Ctg Repeat Instability, Nelson Lap Shun Chan
Identification Of Activities Involved In Cag/Ctg Repeat Instability, Nelson Lap Shun Chan
University of Kentucky Doctoral Dissertations
CAG/CTG repeat instability is associated with at least 14 neurological disorders, including Huntington’s disease and Myotonic dystrophy type 1. In vitro and in vivo studies have showed that CAG/CTG repeats form a stable hairpin that is believed to be the intermediate for repeat expansion and contraction.
Addition of extra DNA is essential for repeat expansion, so DNA synthesis is one of the keys for repeat expansion. In vivo studies reveal that 3’ CTG slippage with subsequent hairpin formation (henceforth called the 3’ CTG slippage hairpin) occurs during DNA synthesis. It is proposed that hairpin tolerance machinery is activated because prolonged …