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FIU Electronic Theses and Dissertations

Neurodegenerative diseases

Molecular Biology

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Trinucleotide Repeat Instability Modulated By Dna Repair Enzymes And Cofactors, Yaou Ren May 2018

Trinucleotide Repeat Instability Modulated By Dna Repair Enzymes And Cofactors, Yaou Ren

FIU Electronic Theses and Dissertations

Trinucleotide repeat (TNR) instability including repeat expansions and repeat deletions is the cause of more than 40 inherited incurable neurodegenerative diseases and cancer. TNR instability is associated with DNA damage and base excision repair (BER). In this dissertation research, we explored the mechanisms of BER-mediated TNR instability via biochemical analysis of the BER protein activities, DNA structures, protein-protein interaction, and protein-DNA interaction by reconstructing BER in vitro using synthesized oligonucleotide TNR substrates and purified human proteins. First, we evaluated a germline DNA polymerase β (pol β) polymorphic variant, pol βR137Q, in leading TNR instability-mediated cancers or neurodegenerative diseases. We find ...