Article
The DNA Polymerase Gamma R953C Mutant Is Associated with Antiretroviral Therapy-Induced Mitochondrial Toxicity.
Antimicrobial agents and chemotherapy - 1 Sept 2016
Li Min, Mislak Andrea C, Foli Yram, Agbosu Esinam, Bose Vivek, Bhandari Shreya, Szymanski Michal R, Shumate Christie K, Yin Y Whitney, Anderson Karen S, Paintsil Elijah
Abstract excerpt
We found a heterozygous C2857T mutation (R953C) in polymerase gamma (Pol-γ) in an HIV-infected patient with mitochondrial toxicity. The R953C Pol-γ mutant binding affinity for dCTP is 8-fold less than that of the wild type. The R953C mutant shows a 4-fold decrease in discrimination of analog nucleotides relative to the wild type. R953 is located on the "O-helix" that forms the substrate deoxynucleoside...
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