{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T12:17:30Z","timestamp":1788178650907,"version":"build-2803163510"},"reference-count":50,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T00:00:00Z","timestamp":1583884800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2020,5]]},"DOI":"10.1016\/j.mito.2020.03.005","type":"journal-article","created":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T12:47:47Z","timestamp":1583844467000},"page":"163-172","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"special_numbering":"C","title":["Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss"],"prefix":"10.1016","volume":"52","author":[{"given":"Jing","family":"Zheng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohui","family":"Bai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanchun","family":"Ji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feilong","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maerhaba","family":"Aishanjiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yinglong","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haibo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min-Xin","family":"Guan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mito.2020.03.005_b0005","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1006\/jmbi.1993.1277","article-title":"Recognition nucleotides of Escherichia coli tRNALeuand its elements facilitating discrimination from tRNASer and tRNATyr","volume":"231","author":"Asahara","year":"1993","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.mito.2020.03.005_b0010","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.biocel.2016.05.012","article-title":"The defective expression of gtpbp3 related to tRNA modification alters the mitochondrial function and development of zebrafish","volume":"77","author":"Chen","year":"2016","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.mito.2020.03.005_b0015","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.mito.2008.05.002","article-title":"Mutations at position 7445 in the precursor of mitochondrial tRNASer(UCN) gene in three maternal Chinese pedigrees with sensorineural hearing loss","volume":"8","author":"Chen","year":"2008","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2020.03.005_b0020","doi-asserted-by":"crossref","first-page":"19198","DOI":"10.1074\/jbc.M908734199","article-title":"The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes","volume":"275","author":"Chomyn","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2020.03.005_b0025","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1093\/hmg\/7.3.347","article-title":"Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene","volume":"7","author":"Degoul","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2020.03.005_b0030","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.neuron.2010.10.011","article-title":"Hearing impairment: a panoply of genes and functions","volume":"68","author":"Dror","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/j.mito.2020.03.005_b0035","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/ng0595-47","article-title":"MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALysand premature translation termination","volume":"10","author":"Enriquez","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mito.2020.03.005_b0040","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO;2-W","article-title":"Mitochondrial deafness mutations reviewed","volume":"13","author":"Fischel-Ghodsian","year":"1999","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mito.2020.03.005_b0045","doi-asserted-by":"crossref","first-page":"8039","DOI":"10.1093\/nar\/gku466","article-title":"A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential","volume":"42","author":"Gong","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2020.03.005_b0050","doi-asserted-by":"crossref","first-page":"5868","DOI":"10.1128\/MCB.18.10.5868","article-title":"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","volume":"18","author":"Guan","year":"1998","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.mito.2020.03.005_b0055","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1086\/506389","article-title":"Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations","volume":"79","author":"Guan","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2020.03.005_b0060","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.mito.2010.10.006","article-title":"Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity","volume":"11","author":"Guan","year":"2011","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2020.03.005_b0065","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1002\/humu.22023","article-title":"Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss","volume":"33","author":"Gutierrez","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mito.2020.03.005_b0070","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/sj.ejhg.5200581","article-title":"Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation","volume":"9","author":"Hutchin","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.mito.2020.03.005_b0075","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/sj.ejhg.5201250","article-title":"Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment","volume":"13","author":"Jacobs","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.mito.2020.03.005_b0080","doi-asserted-by":"crossref","first-page":"4064","DOI":"10.1093\/hmg\/ddt256","article-title":"Coronary heart disease is associated with a mutation in mitochondrial tRNA","volume":"22","author":"Jia","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2020.03.005_b0085","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1093\/hmg\/ddv498","article-title":"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","volume":"25","author":"Jiang","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2020.03.005_b0090","doi-asserted-by":"crossref","first-page":"1920","DOI":"10.1128\/MCB.00199-16","article-title":"A hypertension-associated tRNAAlamutationalters tRNA metabolism and mitochondrial function","volume":"36","author":"Jiang","year":"2016","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.mito.2020.03.005_b0095","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.bbrc.2007.06.171","article-title":"Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss","volume":"361","author":"Jin","year":"2007","journal-title":"BiochemBiophys. Res. Commun."},{"key":"10.1016\/j.mito.2020.03.005_b0100","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1038\/nrg3861","article-title":"Emerging roles of tRNA in adaptive translation, signalling dynamics and disease","volume":"16","author":"Kirchner","year":"2015","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.mito.2020.03.005_b0105","doi-asserted-by":"crossref","first-page":"16094","DOI":"10.1038\/nrdp.2016.94","article-title":"Congenital hearing loss","volume":"3","author":"Korver","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"key":"10.1016\/j.mito.2020.03.005_b0110","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1093\/nar\/gkg282","article-title":"Pathology-related substitutions in human mitochondrial tRNAIle reduce precursor 3' end processing efficiency in vitro","volume":"31","author":"Levinger","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2020.03.005_b0115","doi-asserted-by":"crossref","first-page":"5430","DOI":"10.1093\/nar\/gkh884","article-title":"Mitochondrial tRNA 3' end metabolism and human disease","volume":"32","author":"Levinger","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2020.03.005_b0120","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1093\/nar\/gkh226","article-title":"Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness","volume":"32","author":"Li","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2020.03.005_b0125","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.bbrc.2004.12.140","article-title":"Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASer(UCN) gene in a Japanese family","volume":"328","author":"Li","year":"2005","journal-title":"BiochemBiophys Res. Commun."},{"key":"10.1016\/j.mito.2020.03.005_b0130","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/j.bbrc.2005.01.006","article-title":"Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids","volume":"328","author":"Li","year":"2005","journal-title":"BiochemBiophys Res. Commun."},{"key":"10.1016\/j.mito.2020.03.005_b0135","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s11010-015-2493-0","article-title":"The tRNAGly T10003C mutation in mitochondrial haplogroup M11b in a Chinese family with diabetes decreases the steady-state level of tRNAGly, increases aberrant reactive oxygen species production, and reduces mitochondrial membrane potential","volume":"408","author":"Li","year":"2015","journal-title":"Mol. Cell Biochem."},{"key":"10.1016\/j.mito.2020.03.005_b0140","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.mito.2015.01.004","article-title":"Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNAGly gene","volume":"21","author":"Liu","year":"2015","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2020.03.005_b0145","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1016\/j.mito.2010.01.007","article-title":"Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss","volume":"10","author":"Lu","year":"2010","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2020.03.005_b0150","doi-asserted-by":"crossref","first-page":"2881","DOI":"10.1074\/jbc.M116.749374","article-title":"Biochemical evidence for a nuclear modifier allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) related to mitochondrial tRNA modification in the phenotypic manifestation of deafness-associated 12S rRNA mutation","volume":"292","author":"Meng","year":"2017","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2020.03.005_b0155","doi-asserted-by":"crossref","first-page":"3321","DOI":"10.1074\/jbc.RA117.000530","article-title":"Contribution of the tRNAIle 4317A\u2013>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A\u2013>G mutation","volume":"293","author":"Meng","year":"2018","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2020.03.005_b0160","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1002\/humu.20378","article-title":"Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA","volume":"27","author":"Ruiz-Pesini","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mito.2020.03.005_b0165","doi-asserted-by":"crossref","first-page":"D139","DOI":"10.1093\/nar\/gki012","article-title":"Compilation of tRNA sequences and sequences of tRNA genes","volume":"33","author":"Sprinzl","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2020.03.005_b0170","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1146\/annurev-genet-110410-132531","article-title":"Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases","volume":"45","author":"Suzuki","year":"2011","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.mito.2020.03.005_b0175","doi-asserted-by":"crossref","first-page":"7346","DOI":"10.1093\/nar\/gku390","article-title":"A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs","volume":"42","author":"Suzuki","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2020.03.005_b0180","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.mito.2015.05.001","article-title":"Mitochondrial tRNASer(UCN) variants in 2651 Han Chinese subjects with hearing loss","volume":"23","author":"Tang","year":"2015","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2020.03.005_b0185","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.4161\/15476286.2014.992277","article-title":"Diversity of the biosynthesis pathway for threonylcarbamoyladenosine (t(6)A), a universal modification of tRNA","volume":"11","author":"Thiaville","year":"2014","journal-title":"RNA Biol."},{"key":"10.1016\/j.mito.2020.03.005_b0190","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1136\/jmg.37.1.38","article-title":"Prevalence of mitochondrial gene mutations among hearing impaired patients","volume":"37","author":"Usami","year":"2000","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mito.2020.03.005_b0195","doi-asserted-by":"crossref","first-page":"E386","DOI":"10.1002\/humu.20921","article-title":"Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation","volume":"30","author":"van Oven","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mito.2020.03.005_b0200","doi-asserted-by":"crossref","first-page":"10974","DOI":"10.1093\/nar\/gkw726","article-title":"A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function","volume":"44","author":"Wang","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2020.03.005_b0205","doi-asserted-by":"crossref","first-page":"21029","DOI":"10.1074\/jbc.M116.739482","article-title":"A deafness and diabetes-associated tRNA mutation causes deficient pseudouridinylation at position 55 in tRNAGlu and mitochondrial dysfunction","volume":"291","author":"Wang","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2020.03.005_b0210","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1038\/sj.cr.7310124","article-title":"Mitochondrial rRNA and tRNA and hearing function","volume":"17","author":"Xing","year":"2007","journal-title":"Cell Res."},{"key":"10.1016\/j.mito.2020.03.005_b0215","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.mito.2016.08.008","article-title":"Mitochondrial tRNA mutations in 2070 Chinese Han subjects with hypertension","volume":"30","author":"Xue","year":"2016","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2020.03.005_b0220","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.mito.2018.10.001","article-title":"A deafness-associated mitochondrial DNA mutation altered the tRNASer(UCN) metabolism and mitochondrial function","volume":"46","author":"Xue","year":"2019","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2020.03.005_b0225","doi-asserted-by":"crossref","first-page":"3926","DOI":"10.1074\/jbc.M509822200","article-title":"Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure","volume":"281","author":"Yan","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2020.03.005_b0230","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1136\/jmedgenet-2011-100219","article-title":"Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene","volume":"48","author":"Yan","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mito.2020.03.005_b0235","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1007\/s13238-015-0203-z","article-title":"Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S rRNA 1555A>G mutation","volume":"6","author":"Ying","year":"2015","journal-title":"Protein Cell"},{"key":"10.1016\/j.mito.2020.03.005_b0240","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.mito.2012.04.001","article-title":"Mitochondrial tRNA mutations associated with deafness","volume":"12","author":"Zheng","year":"2012","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2020.03.005_b0245","article-title":"GJB2 mutation spectrum and genotype-phenotype correlation in 1067 Han Chinese subjects with non-syndromic hearing loss","volume":"10","author":"Zheng","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.mito.2020.03.005_b0250","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1074\/jbc.RA117.000317","article-title":"A hypertension-associated mitochondrial DNA mutation introduces an m(1)G37 modification into tRNAMet, altering its structure and function","volume":"293","author":"Zhou","year":"2018","journal-title":"J. Biol. Chem."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724918302642?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724918302642?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T18:27:16Z","timestamp":1761589636000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724918302642"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5]]},"references-count":50,"alternative-id":["S1567724918302642"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2020.03.005","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2020,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2020.03.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}