Mitochondrial tRNA variants in 811 Chinese probands with Leber’s hereditary optic neuropathy

Wallace, 2017, Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA disease, Handb. Exp. Pharmacol., 240, 339, 10.1007/164_2017_2 Yen, 2006, Leber's hereditary optic neuropathy: a multifactorial disease, Prog. Retin. Eye Res., 25, 381, 10.1016/j.preteyeres.2006.05.002 Jurkute, 2017, eber hereditary optic neuropathy: bridging the translational gap, Curr. Opin. Ophthalmol., 28, 403, 10.1097/ICU.0000000000000410 Andrews, 1999, Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA, Nat. Genet., 23, 147, 10.1038/13779 Wallace, 1988, Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy, Science, 242, 1427, 10.1126/science.3201231 Mackey, 1996, Primary pathogenic mtDNA mutations in multigeneration pedigrees with leber hereditary optic neuropathy, Am. J. Hum. Genet., 59, 481 Ruiz-Pesini, 2007, An enhanced mitomap with a global mtDNA mutational phylogeny, Nucleic Acids Res., 35, 10.1093/nar/gkl927 Brown, 1995, Phylogenetic analysis of Leber’s hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations, Hum Mut., 6, 311, 10.1002/humu.1380060405 Liang, 2014, Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy, Invest. Ophthalmol. Vis. Sci., 55, 1321, 10.1167/iovs.13-13011 Jiang, 2015, Prevalence of mitochondrial ND4 mutations in 1281 Han Chinese subjects with Leber's hereditary optic neuropathy, Invest. Ophthalmol. Vis. Sci., 56, 4778, 10.1167/iovs.14-16158 Ji, 2016, Mitochondrial ND1 variants in 1281 Chinese subjects with Leber's hereditary optic neuropathy, Invest. Ophthalmol. Vis. Sci., 57, 2377, 10.1167/iovs.16-19243 Ji, 2020, Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy, J. Biol. Chem., 295, 13224, 10.1074/jbc.RA120.014603 Zhou, 2012, Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families, Invest. Ophthalmol. Vis. Sci., 53, 4586, 10.1167/iovs.11-9109 Zhang, 2014, Leber’s hereditary optic neuropathy caused by the homoplasmic ND1 G3635A mutation in nine Han Chinese families, Mitochondrion, 18, 18, 10.1016/j.mito.2014.08.008 Zhang, 2018, Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T>C mutation altered the assembly and function of complex I, apoptosis and mitophagy, Hum. Mol. Genet., 27, 1999, 10.1093/hmg/ddy107 Qu, 2006, The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation, Invest. Ophthalmol. Vis. Sci., 47, 475, 10.1167/iovs.05-0665 Li, 2006, The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family, Gene, 376, 79, 10.1016/j.gene.2006.02.014 Zhang, 2018, Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNAThr in eight Chinese pedigrees, Mitochondrion, 42, 84, 10.1016/j.mito.2017.12.003 Ji, 2021, Mechanistic insights into mitochondrial tRNAAla 3'-end metabolism deficiency, J. Biol. Chem., 297, 10.1016/j.jbc.2021.100816 Suzuki, 2011, Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases, Annu. Rev. Genet., 45, 299, 10.1146/annurev-genet-110410-132531 Florentz, 2003, Human mitochondrial tRNAs in health and disease, Cell. Mol. Life Sci., 60, 1356, 10.1007/s00018-003-2343-1 Kirchner, 2015, Emerging roles of tRNA in adaptive translation, signalling dynamics and disease, Nat. Rev. Genet., 16, 98, 10.1038/nrg3861 Zheng, 2020, Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss, Mitochondrion, 52, 163, 10.1016/j.mito.2020.03.005 Zheng, 2012, Mitochondrial tRNA mutations associated with deafness, Mitochondrion, 12, 406, 10.1016/j.mito.2012.04.001 Xue, 2016, Mitochondrial tRNA mutations in 2070 Chinese Han subjects with hypertension, Mitochondrion, 30, 208, 10.1016/j.mito.2016.08.008 Rieder, 1998, Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome, Nucleic Acids Res., 26, 967, 10.1093/nar/26.4.967 Kong, 2006, Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations, Hum. Mol. Genet., 15, 2076, 10.1093/hmg/ddl130 Ruiz-Pesini, 2006, Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA, Hum. Mutat., 27, 1072, 10.1002/humu.20378 Sprinzl, 1998, Compilation of tRNA sequences and sequences of tRNA genes, Nucleic Acids Res., 26, 148, 10.1093/nar/26.1.148 Ojala, 1981, tRNA punctuation model of RNA processing in human mitochondria, Nature, 290, 470, 10.1038/290470a0 Guan, 1998, The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression, Mol. Cell. Biol., 18, 5868, 10.1128/MCB.18.10.5868 Xiao, 2020, Asymmetrical effects of deafness-associated mitochondrial DNA 7516delA mutation on the processing of RNAs in the H-strand and L-strand polycistronic transcripts, Nucleic Acids Res., 48, 11113, 10.1093/nar/gkaa860 Li, 2010, Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes, Mol. Cell. Biol., 30, 2147, 10.1128/MCB.01614-09 Liu, 2009, Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree, Hypertension, 53, 1083, 10.1161/HYPERTENSIONAHA.109.128702 Meng, 2021, A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation, Nucleic Acids Res., 49, 1075, 10.1093/nar/gkaa1225 Wang, 2016, A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function, Nucleic Acids Res., 44, 10974, 10.1093/nar/gkw726 Zhou, 2018, A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function, J. Biol. Chem., 293, 1425, 10.1074/jbc.RA117.000317 Allnér, 2011, Nucleotide modifications and tRNA anticodon-mRNA codon interactions on the ribosome, RNA, 17, 2177, 10.1261/rna.029231.111 Wang, 2016, A deafness- and diabetes-associated tRNA mutation causes deficient pseudouridinylation at position 55 in tRNAGlu and mitochondrial dysfunction, J. Biol. Chem., 291, 21029, 10.1074/jbc.M116.739482 Enriquez, 1995, MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination, Nat. Genet., 10, 47, 10.1038/ng0595-47 Fan, 2019, Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation, J. Biol. Chem., 294, 19292, 10.1074/jbc.RA119.010598 Gong, 2014, A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential, Nucleic Acids Res., 42, 8039, 10.1093/nar/gku466 Liu, 2015, Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNAGly gene, Mitochondrion, 21, 49, 10.1016/j.mito.2015.01.004 Jia, 2019, A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis, Nucleic Acids Res., 47, 2056, 10.1093/nar/gky1241 Shuai, 2022, Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy, Ir. J. Med. Sci., 191, 865, 10.1007/s11845-021-02656-6 Helm, 1998, The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA, Nucleic Acids Res., 26, 1636, 10.1093/nar/26.7.1636 Roovers, 2006, Formation of the conserved pseudouridine at position 55 in archaeal tRNA, Nucleic Acids Res., 34, 4293, 10.1093/nar/gkl530 Gong, 2020, Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNAHis mutation, J. Biol. Chem., 295, 940, 10.1016/S0021-9258(17)49906-6 La Morgia, 2021, Retina and melanopsin neurons, Handb. Clin. Neurol., 179, 315, 10.1016/B978-0-12-819975-6.00020-0 Jin, 2021, An animal model for mitochondrial tyrosyl-tRNA synthetase deficiency reveals links between oxidative phosphorylation and retinal function, J. Biol. Chem., 296, 10.1016/j.jbc.2021.100437 Qu, 2009, Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation, Ophthalmology, 116, 558, 10.1016/j.ophtha.2008.10.022 Zhang, 2021, Assocation between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A mutation-induced alterations in mitochondrial function, apoptosis, and mitophagy, Invest. Ophthalmol. Vis. Sci., 62, 38, 10.1167/iovs.62.9.38 Zhang, 2013, Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families, Mitochondrion, 13, 772, 10.1016/j.mito.2013.05.002 Ji, 2019, Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy, Hum. Mol. Genet., 28, 1515, 10.1093/hmg/ddy450 Jiang, 2016, Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation, Hum. Mol. Genet., 25, 3613, 10.1093/hmg/ddw199 Pello, 2008, Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease, Hum. Mol. Genet., 17, 4001, 10.1093/hmg/ddn303 Caporali, 2017, Incomplete penetrance in mitochondrial optic neuropathies, Mitochondrion, 36, 130, 10.1016/j.mito.2017.07.004 Torroni, 1997, Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484, Am. J. Hum. Genet., 60, 1107 Ji, 2008, Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of Leber hereditary optic neuropathy in Chinese families with the m.11778G–>a mutation, Am. J. Hum. Genet., 83, 760, 10.1016/j.ajhg.2008.11.002 Jiang, 2016, The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber’s hereditary optic neuropathy-associated mitochondrial DNA mutation, Hum. Mol. Genet., 25, 584, 10.1093/hmg/ddv498 Jin, 2021, Leber's hereditary optic neuropathy arising from the synergy between ND1 3635G>A mutation and mitochondrial YARS2 mutations, Invest. Ophthalmol. Vis. Sci., 62, 22, 10.1167/iovs.62.7.22 Yu, 2020, PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy, J. Clin. Invest., 130, 4935, 10.1172/JCI134965 He, 2021, Tissue-specific expression atlas of murine mitochondrial tRNAs, J. Biol. Chem., 297, 10.1016/j.jbc.2021.100960 Dittmar, 2006, Tissue-specific differences in human transfer RNA expression, PLoS Genet., 2, e221, 10.1371/journal.pgen.0020221