{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T10:10:52Z","timestamp":1792404652698,"version":"4.4.0"},"reference-count":62,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T00:00:00Z","timestamp":1630972800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung and Blood Institute","doi-asserted-by":"crossref","award":["UM1 HG008900"],"award-info":[{"award-number":["UM1 HG008900"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R01 HG009141"],"award-info":[{"award-number":["R01 HG009141"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008018","name":"Victorian Cancer Agency","doi-asserted-by":"publisher","award":["GNT1127745"],"award-info":[{"award-number":["GNT1127745"]}],"id":[{"id":"10.13039\/100008018","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008018","name":"Victorian Cancer Agency","doi-asserted-by":"publisher","award":["2003542"],"award-info":[{"award-number":["2003542"]}],"id":[{"id":"10.13039\/100008018","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008018","name":"Victorian Cancer Agency","doi-asserted-by":"publisher","award":["2003545"],"award-info":[{"award-number":["2003545"]}],"id":[{"id":"10.13039\/100008018","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,2,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The nuclear pore complex (NPC) is a multi-protein complex that regulates the trafficking of macromolecules between the nucleus and cytoplasm. Genetic variants in components of the NPC have been shown to cause a range of neurological disorders, including intellectual disability and microcephaly. Translocated promoter region, nuclear basket protein (TPR) is a critical scaffolding element of the nuclear facing interior of the NPC. Here, we present two siblings with biallelic variants in TPR who present with a phenotype of microcephaly, ataxia and severe intellectual disability. The variants result in a premature truncation variant, and a splice variant leading to a 12-amino acid deletion respectively. Functional analyses in patient fibroblasts demonstrate significantly reduced TPR levels, and decreased TPR-containing NPC density. A compensatory increase in total NPC levels was observed, and decreased global RNA intensity in the nucleus. The discovery of variants that partly disable TPR function provide valuable insight into this essential protein in human disease, and our findings suggest that TPR variants are the cause of the siblings\u2019 neurological disorder.<\/jats:p>","DOI":"10.1093\/hmg\/ddab248","type":"journal-article","created":{"date-parts":[[2021,9,8]],"date-time":"2021-09-08T06:21:56Z","timestamp":1631082116000},"page":"362-375","source":"Crossref","is-referenced-by-count":11,"title":["Pathogenic variants in nucleoporin <i>TPR (translocated promoter region, nuclear basket protein)<\/i> cause severe intellectual disability in humans"],"prefix":"10.1093","volume":"31","author":[{"given":"Nicole J","family":"Van Bergen","sequence":"first","affiliation":[{"name":"Brain and Mitochondrial Research Group, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia"},{"name":"Department of Paediatrics, University of Melbourne, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina M","family":"Bell","sequence":"additional","affiliation":[{"name":"Bioinformatics Methods group, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia"},{"name":"Victorian Clinical Genetics Services, Royal Children\u2019s Hospital, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsty","family":"Carey","sequence":"additional","affiliation":[{"name":"RNA Biology and Cancer Laboratory, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Russell","family":"Gear","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Royal Children\u2019s Hospital, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Massey","sequence":"additional","affiliation":[{"name":"Brain and Mitochondrial Research Group, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward K","family":"Murrell","sequence":"additional","affiliation":[{"name":"Brain and Mitochondrial Research Group, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyndon","family":"Gallacher","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Melbourne, Melbourne, Australia"},{"name":"Victorian Clinical Genetics Services, Royal Children\u2019s Hospital, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Pope","sequence":"additional","affiliation":[{"name":"Bruce Lefroy Centre for Genetic Health Research, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J","family":"Lockhart","sequence":"additional","affiliation":[{"name":"Bruce Lefroy Centre for Genetic Health Research, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Kornberg","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Melbourne, Melbourne, Australia"},{"name":"Neurology Department, Royal Children's Hospital, Melbourne, Australia"},{"name":"Neurosciences Research, Murdoch Children\u2019s Research Institute, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn","family":"Pais","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzena","family":"Walkiewicz","sequence":"additional","affiliation":[{"name":"Translational Genomics Research Group, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cas","family":"Simons","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Royal Children\u2019s Hospital, VIC, Australia"},{"name":"Translational Genomics Research Group, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"MCRI Rare Diseases Flagship","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vihandha O","family":"Wickramasinghe","sequence":"additional","affiliation":[{"name":"RNA Biology and Cancer Laboratory, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia"},{"name":"Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M","family":"White","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Melbourne, Melbourne, Australia"},{"name":"Victorian Clinical Genetics Services, Royal Children\u2019s Hospital, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Brain and Mitochondrial Research Group, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia"},{"name":"Department of Paediatrics, University of Melbourne, Melbourne, Australia"},{"name":"Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,9,7]]},"reference":[{"key":"2022020901100734900_ref1","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1146\/annurev-biochem-062917-011901","article-title":"The structure of the nuclear pore complex (an update)","volume":"88","author":"Lin","year":"2019","journal-title":"Annu. Rev. Biochem."},{"key":"2022020901100734900_ref2","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1146\/annurev-biochem-060109-151030","article-title":"The structure of the nuclear pore complex","volume":"80","author":"Hoelz","year":"2011","journal-title":"Annu. Rev. Biochem."},{"key":"2022020901100734900_ref3","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1083\/jcb.73.3.748","article-title":"Quantitative determination of nuclear pore complexes in cycling cells with differing DNA content","volume":"73","author":"Maul","year":"1977","journal-title":"J. Cell Biol."},{"key":"2022020901100734900_ref4","doi-asserted-by":"crossref","first-page":"50597","DOI":"10.1074\/jbc.M209037200","article-title":"GLFG and FxFG nucleoporins bind to overlapping sites on importin-\u03b2","volume":"277","author":"Bayliss","year":"2002","journal-title":"J. Biol. Chem."},{"key":"2022020901100734900_ref5","doi-asserted-by":"crossref","first-page":"4562","DOI":"10.1093\/nar\/gks059","article-title":"Functional and structural characterization of the mammalian TREX-2 complex that links transcription with nuclear messenger RNA export","volume":"40","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"2022020901100734900_ref6","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.cub.2009.10.078","article-title":"mRNA export from mammalian cell nuclei is dependent on GANP","volume":"20","year":"2010","journal-title":"Curr. Biol."},{"key":"2022020901100734900_ref7","first-page":"2656","article-title":"The human TREX-2 complex is stably associated with the nuclear pore basket","volume":"126","author":"Umlauf","year":"2013","journal-title":"J. Cell Sci."},{"key":"2022020901100734900_ref8","doi-asserted-by":"crossref","first-page":"5843","DOI":"10.1093\/emboj\/cdf590","article-title":"The mRNA export machinery requires the novel Sac3p-Thp1p complex to dock at the nucleoplasmic entrance of the nuclear pores","volume":"21","author":"Fischer","year":"2002","journal-title":"EMBO J."},{"key":"2022020901100734900_ref9","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1038\/nrm4010","article-title":"Control of mammalian gene expression by selective mRNA export","volume":"16","author":"Wickramasinghe","year":"2015","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2022020901100734900_ref10","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. 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Biotechnol."},{"key":"2022020901100734900_ref15","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/nature19356","article-title":"High-throughput discovery of novel developmental phenotypes","volume":"537","author":"Dickinson","year":"2016","journal-title":"Nature"},{"key":"2022020901100734900_ref16","doi-asserted-by":"crossref","first-page":"D899","DOI":"10.1093\/nar\/gkaa1026","article-title":"FlyBase: updates to the Drosophila melanogaster knowledge base","volume":"49","author":"Larkin","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"2022020901100734900_ref17","article-title":"Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"2022020901100734900_ref18","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1186\/1476-4598-9-119","article-title":"Characterization of the role of the tumor marker Nup88 in mitosis","volume":"9","author":"Hashizume","year":"2010","journal-title":"Mol. 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Genet."},{"key":"2022020901100734900_ref22","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1101\/gad.315523.118","article-title":"Tpr regulates the total number of nuclear pore complexes per cell nucleus","volume":"32","author":"McCloskey","year":"2018","journal-title":"Genes Dev."},{"key":"2022020901100734900_ref23","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1083\/jcb.200912045","article-title":"The nucleoporin Nup188 controls passage of membrane proteins across the nuclear pore complex","volume":"189","author":"Theerthagiri","year":"2010","journal-title":"J. Cell Biol."},{"key":"2022020901100734900_ref24","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1101\/gad.260919.115","article-title":"The nucleoporin Nup153 regulates embryonic stem cell pluripotency through gene silencing","volume":"29","author":"Jacinto","year":"2015","journal-title":"Genes Dev."},{"key":"2022020901100734900_ref25","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/cne.902900311","article-title":"Distribution of nuclear pores and chromatin organization in neurons and glial cells of the rat cerebellar cortex","volume":"290","author":"Garcia-Segura","year":"1989","journal-title":"J. Comp. Neurol."},{"key":"2022020901100734900_ref26","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/j.stem.2017.08.012","article-title":"Nup153 interacts with Sox2 to enable bimodal gene regulation and maintenance of neural progenitor cells","volume":"21","author":"Toda","year":"2017","journal-title":"Cell Stem Cell"},{"key":"2022020901100734900_ref27","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/j.devcel.2011.11.021","article-title":"A change in nuclear pore complex composition regulates cell differentiation","volume":"22","author":"D'Angelo","year":"2012","journal-title":"Dev. Cell"},{"key":"2022020901100734900_ref28","doi-asserted-by":"crossref","first-page":"2606","DOI":"10.1038\/s41467-020-16394-3","article-title":"Nucleoporin 153 links nuclear pore complex to chromatin architecture by mediating CTCF and cohesin binding","volume":"11","author":"Kadota","year":"2020","journal-title":"Nat. Commun."},{"key":"2022020901100734900_ref29","doi-asserted-by":"crossref","first-page":"2433","DOI":"10.1091\/mbc.12.8.2433","article-title":"Amino acid substitutions of coiled-coil protein Tpr abrogate anchorage to the nuclear pore complex but not parallel, in-register homodimerization","volume":"12","author":"Hase","year":"2001","journal-title":"Mol. Biol. Cell"},{"key":"2022020901100734900_ref30","doi-asserted-by":"crossref","first-page":"4261","DOI":"10.1091\/mbc.e04-03-0165","article-title":"Nucleoporins as components of the nuclear pore complex core structure and Tpr as the architectural element of the nuclear basket","volume":"15","author":"Krull","year":"2004","journal-title":"Mol. Biol. 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Cell Biol."},{"key":"2022020901100734900_ref32","doi-asserted-by":"crossref","first-page":"11645","DOI":"10.1093\/nar\/gkaa919","article-title":"TPR is required for the efficient nuclear export of mRNAs and lncRNAs from short and intron-poor genes","volume":"48","author":"Lee","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"2022020901100734900_ref33","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.neuron.2019.03.014","article-title":"Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions","volume":"102","author":"Nussbacher","year":"2019","journal-title":"Neuron"},{"key":"2022020901100734900_ref34","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1038\/nn.4085","article-title":"Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD\/ALS","volume":"18","author":"Jovi\u010di\u0107","year":"2015","journal-title":"Nat. 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