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. 2023 Jan 25;16:139–149. doi: 10.2147/DMSO.S393960

Table 1.

Summary of PCOS-IR–associated Mt-tRNA mutations

tRNA species Allele Nucleotide position in tRNAs Structure location Homoplasmy/heteroplasmy Aberrant tRNA Biology References
tRNALeu(UUR) C3275T 44 Variable region Homoplasmy Disrupts conserved base-pairing [69]
A3302G 71 Acceptor arm Heteroplasmy Affects 3’-end processing [65]
tRNAGln T4363C 38 Anticodon stem Homoplasmy Affects tRNA posttranscriptional modification [69]
T4395C 6 Acceptor arm Homoplasmy Creates new base-pairing [69]
tRNACys G5821A 6 Acceptor arm Homoplasmy Disrupts conserved base-pairing [75,76]
tRNASer(UCN) C7492T 26 Anticodon stem Homoplasmy Creates new base-pairing [52]
tRNAAsp A7543G 29 Anticodon stem Heteroplasmy Affects tRNA aminoacylation and steady-state level [71]
tRNALys A8343G 54 TψC loop Homoplasmy Affects tRNA posttranscriptional modification [69]
tRNAGlu A14693G 54 TψC loop Homoplasmy Affects tRNA posttranscriptional modification [46,71]