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The photosensitive TTD (PS-TTD) forms exhibits in addition to progressive neuropathy and other features of segmental accelerated aging and is associated with impaired genome maintenance and transcription. New factors involved in various steps of gene expression have been identified for the different non-photosensitive forms of TTD (NPS-TTD), which do not appear to show features of premature aging. Here, we identify alanyl-tRNA synthetase 1 and methionyl-tRNA synthetase 1 variants as new gene defects that cause NPS-TTD. These variants result in the instability of the respective gene products alanyl- and methionyl-tRNA synthetase. These findings extend our previous observations that TTD mutations affect the stability of the corresponding proteins and emphasize this phenomenon as a common feature of TTD. Functional studies in skin fibroblasts from affected individuals demonstrate that these new variants also impact on the rate of tRNA charging, which is the first step in protein translation. The extension of reduced abundance of TTD factors to translation as well as transcription redefines TTD as a syndrome in which proteins involved in gene expression are unstable.<\/jats:p>","DOI":"10.1093\/hmg\/ddab123","type":"journal-article","created":{"date-parts":[[2021,4,23]],"date-time":"2021-04-23T00:39:46Z","timestamp":1619138386000},"page":"1711-1720","source":"Crossref","is-referenced-by-count":49,"title":["Protein instability associated with <i>AARS1<\/i> and <i>MARS1<\/i> mutations causes trichothiodystrophy"],"prefix":"10.1093","volume":"30","author":[{"given":"Elena","family":"Botta","sequence":"first","affiliation":[{"name":"Istituto di Genetica Molecolare \u2018Luigi Luca Cavalli-Sforza\u2019 (IGM) CNR, Via Abbiategrasso 207, Pavia 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjan F","family":"Theil","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Oncode Institute, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, Rotterdam 3015 GD, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Raams","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Oncode Institute, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, Rotterdam 3015 GD, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Caligiuri","sequence":"additional","affiliation":[{"name":"Istituto di Genetica Molecolare \u2018Luigi Luca Cavalli-Sforza\u2019 (IGM) CNR, Via Abbiategrasso 207, Pavia 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Giachetti","sequence":"additional","affiliation":[{"name":"Istituto di Genetica Molecolare \u2018Luigi Luca Cavalli-Sforza\u2019 (IGM) CNR, Via Abbiategrasso 207, Pavia 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Bione","sequence":"additional","affiliation":[{"name":"Istituto di Genetica Molecolare \u2018Luigi Luca Cavalli-Sforza\u2019 (IGM) CNR, Via Abbiategrasso 207, Pavia 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Accadia","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital \u2018Cardinale G. Panico\u2019, Via San Pio X Tricase 73039, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Lombardi","sequence":"additional","affiliation":[{"name":"Istituto di Genetica Molecolare \u2018Luigi Luca Cavalli-Sforza\u2019 (IGM) CNR, Via Abbiategrasso 207, Pavia 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desiree E C","family":"Smith","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam 1081 HZ, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisa I","family":"Mendes","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam 1081 HZ, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigrid M A","family":"Swagemakers","sequence":"additional","affiliation":[{"name":"Department of Pathology, Clinical Bioinformatics Unit, Erasmus University Medical Center Rotterdam, Dr. Molewaterplein 40, Rotterdam 3015 GD, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J","family":"van der Spek","sequence":"additional","affiliation":[{"name":"Department of Pathology, Clinical Bioinformatics Unit, Erasmus University Medical Center Rotterdam, Dr. Molewaterplein 40, Rotterdam 3015 GD, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gajja S","family":"Salomons","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam 1081 HZ, The Netherlands"},{"name":"Laboratory of Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam 1105 AZ, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan H J","family":"Hoeijmakers","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Oncode Institute, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, Rotterdam 3015 GD, The Netherlands"},{"name":"Oncode Institute, Princess Maxima Center for Pediatric Oncology, Utrecht 3584 CS, The Netherlands"},{"name":"Institute for Genome Stability in Ageing and Disease, CECAD Forschungszentrum, University of Cologne, Cologne 50931, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhanya","family":"Yesodharan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, AIMS Ponekkara PO, Cochin 682041, Kerala, 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Genet."},{"key":"2021090214222835700_ref16","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/j.ajhg.2019.06.017","article-title":"Bi-allelic TARS mutations are associated with brittle hair phenotype","volume":"105","author":"Theil","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"2021090214222835700_ref17","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1038\/s41467-019-10131-1","article-title":"TFIIE orchestrates the recruitment of the TFIIH kinase module at promoter before release during transcription","volume":"10","author":"Compe","year":"2019","journal-title":"Nat. Commun."},{"key":"2021090214222835700_ref18","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00580-16","article-title":"Role of Cwc24 in the first catalytic step of splicing and fidelity of 5\u2032 splice site selection","volume":"37","author":"Wu","year":"2017","journal-title":"Mol. Cell. Biol."},{"key":"2021090214222835700_ref19","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1038\/s41467-020-15003-7","article-title":"The X-linked trichothiodystrophy-causing gene RNF113A links the spliceosome to cell survival upon DNA damage","volume":"11","author":"Shostak","year":"2020","journal-title":"Nat. Commun."},{"key":"2021090214222835700_ref20","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1136\/jmg.21.4.286","article-title":"Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases","volume":"21","author":"King","year":"1984","journal-title":"J. Med. Genet."},{"key":"2021090214222835700_ref21","first-page":"6090","article-title":"Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light","volume":"48","author":"Lehmann","year":"1988","journal-title":"Cancer Res."},{"key":"2021090214222835700_ref22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00019605-199401000-00001","article-title":"Syndromes associated with trichothiodystrophy","volume":"3","author":"Tolmie","year":"1994","journal-title":"Clin. Dysmorphol."},{"key":"2021090214222835700_ref23","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.ajhg.2009.12.005","article-title":"A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-tooth disease","volume":"86","author":"Latour","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"2021090214222835700_ref24","first-page":"4036","article-title":"Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities","volume":"27","author":"Weterman","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"2021090214222835700_ref25","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1186\/s40478-019-0843-y","article-title":"An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids","volume":"7","author":"Sundal","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"2021090214222835700_ref26","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.ajhg.2015.02.012","article-title":"Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect","volume":"96","author":"Simons","year":"2015","journal-title":"Am. J. Hum. 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Mutat."},{"key":"2021090214222835700_ref44","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1073\/pnas.1416181112","article-title":"TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin","volume":"112","author":"Arseni","year":"2015","journal-title":"Proc. Natl. Acad. Sci. U. S. A."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddab123\/38488204\/ddab123.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/30\/18\/1711\/40077379\/ddab123.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/30\/18\/1711\/40077379\/ddab123.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T14:23:44Z","timestamp":1630592624000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/30\/18\/1711\/6256034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,28]]},"references-count":44,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2021,4,28]]},"published-print":{"date-parts":[[2021,8,28]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddab123","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,9,15]]},"published":{"date-parts":[[2021,4,28]]}}}