{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T07:17:48Z","timestamp":1785827868622,"version":"3.56.0"},"reference-count":77,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T00:00:00Z","timestamp":1693180800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>RNA polymerase III (Pol III)-related hypomyelinating leukodystrophy (POLR3-HLD), also known as 4H leukodystrophy, is a severe neurodegenerative disease characterized by the cardinal features of hypomyelination, hypodontia and hypogonadotropic hypogonadism. POLR3-HLD is caused by biallelic pathogenic variants in genes encoding Pol III subunits. While approximately half of all patients carry mutations in POLR3B encoding the RNA polymerase III subunit B, there is no in vivo model of leukodystrophy based on mutation of this Pol III subunit.<\/jats:p>\n               <jats:p>Here, we determined the impact of POLR3B\u039410 (\u039410) on Pol III in human cells and developed and characterized an inducible\/conditional mouse model of leukodystrophy using the orthologous \u039410 mutation in mice. The molecular mechanism of Pol III dysfunction was determined in human cells by affinity purification-mass spectrometry and western blot. Postnatal induction with tamoxifen induced expression of the orthologous \u039410 hypomorph in triple transgenic Pdgfr\u03b1-Cre\/ERT; R26-Stopfl-EYFP; Polr3bfl mice. CNS and non-CNS features were characterized using a variety of techniques including microCT, ex vivo MRI, immunofluorescence, immunohistochemistry, spectral confocal reflectance microscopy and western blot. Lineage tracing and time series analysis of oligodendrocyte subpopulation dynamics based on co-labelling with lineage-specific and\/or proliferation markers were performed.<\/jats:p>\n               <jats:p>Proteomics suggested that \u039410 causes a Pol III assembly defect, while western blots demonstrated reduced POLR3B\u039410 expression in the cytoplasm and nucleus in human cells. In mice, postnatal Pdgfr\u03b1-dependent expression of the orthologous murine mutant protein resulted in recessive phenotypes including severe hypomyelination leading to ataxia, tremor, seizures and limited survival, as well as hypodontia and craniofacial abnormalities. Hypomyelination was confirmed and characterized using classic methods to quantify myelin components such as myelin basic protein and lipids, results which agreed with those produced using modern methods to quantify myelin based on the physical properties of myelin membranes. Lineage tracing uncovered the underlying mechanism for the hypomyelinating phenotype: defective oligodendrocyte precursor proliferation and differentiation resulted in a failure to produce an adequate number of mature oligodendrocytes during postnatal myelinogenesis.<\/jats:p>\n               <jats:p>In summary, we characterized the Polr3b\u039410 mutation and developed an animal model that recapitulates features of POLR3-HLD caused by POLR3B mutations, shedding light on disease pathogenesis, and opening the door to the development of therapeutic interventions.<\/jats:p>","DOI":"10.1093\/brain\/awad249","type":"journal-article","created":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T04:59:50Z","timestamp":1693198790000},"page":"5070-5085","source":"Crossref","is-referenced-by-count":12,"title":["Hypomyelination, hypodontia and craniofacial abnormalities in a <i>Polr3b<\/i> mouse model of leukodystrophy"],"prefix":"10.1093","volume":"146","author":[{"given":"Mackenzie A","family":"Michell-Robinson","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre , Montr\u00e9al, QC H4A 3J1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin E N","family":"Watt","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research , Kansas City, MO 64110 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Grouza","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"},{"name":"McConnell Brain Imaging Centre, Montreal Neurological Institute and Hospital , Montreal, QC H3A 2B4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Macintosh","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre , Montr\u00e9al, QC H4A 3J1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maxime","family":"Pinard","sequence":"additional","affiliation":[{"name":"Translational Proteomics Research Unit, Montreal Clinical Research Institute , Montr\u00e9al, QC H2W 1R7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marius","family":"Tuznik","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"},{"name":"McConnell Brain Imaging Centre, Montreal Neurological Institute and Hospital , Montreal, QC H3A 2B4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoru","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre , Montr\u00e9al, QC H4A 3J1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lama","family":"Darbelli","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre , Montr\u00e9al, QC H4A 3J1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chia-Lun","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre , Montr\u00e9al, QC H4A 3J1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6881-7573","authenticated-orcid":false,"given":"Stefanie","family":"Perrier","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre , Montr\u00e9al, QC H4A 3J1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daryan","family":"Chitsaz","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nonthu\u00e9 A","family":"Uccelli","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanwen","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"},{"name":"McConnell Brain Imaging Centre, Montreal Neurological Institute and Hospital , Montreal, QC H3A 2B4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8015-5528","authenticated-orcid":false,"given":"Timothy C","family":"Cox","sequence":"additional","affiliation":[{"name":"Department of Oral and Craniofacial Sciences, School of Dentistry, and Pediatrics, School of Medicine, University of Missouri \u2013 Kansas City , Kansas City, MO 64108 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2176-8337","authenticated-orcid":false,"given":"Christoph W","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Structural and Computational Biology Unit, European Molecular Biology Laboratory (EMBL) , 69117 Heidelberg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy E","family":"Kennedy","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Coulombe","sequence":"additional","affiliation":[{"name":"Translational Proteomics Research Unit, Montreal Clinical Research Institute , Montr\u00e9al, QC H2W 1R7 , Canada"},{"name":"Department of Biochemistry and Molecular Medicine, University of Montr\u00e9al , Montr\u00e9al, QC H3C 3J7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A","family":"Rudko","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"},{"name":"McConnell Brain Imaging Centre, Montreal Neurological Institute and Hospital , Montreal, QC H3A 2B4 , Canada"},{"name":"Department of Biomedical Engineering, McGill University , Montr\u00e9al, QC H3A 2B4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2774-3624","authenticated-orcid":false,"given":"Paul A","family":"Trainor","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research , Kansas City, MO 64110 , USA"},{"name":"Department of Anatomy and Cell Biology, The University of Kansas School of Medicine , Kansas City, KS 66160 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9634-2966","authenticated-orcid":false,"given":"Genevi\u00e8ve","family":"Bernard","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University , Montr\u00e9al, QC H3A 1A1 , Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre , Montr\u00e9al, QC H4A 3J1 , Canada"},{"name":"Department of Pediatrics, McGill University , Montr\u00e9al, QC H4A 3J1 , Canada"},{"name":"Department of Human Genetics, McGill University , Montr\u00e9al, QC H4A 0C7 , Canada"},{"name":"Department of Specialized Medicine, Division of Medical Genetics, Montreal Children\u2019s Hospital and McGill University Health Centre , Montr\u00e9al, QC H4A 3J1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,8,28]]},"reference":[{"key":"2023120106234146700_awad249-B1","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.ajhg.2011.07.014","article-title":"Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy","volume":"89","author":"Bernard","year":"2011","journal-title":"Am J Hum Genet"},{"key":"2023120106234146700_awad249-B2","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.ajhg.2011.10.006","article-title":"Recessive mutations in POLR3B, encoding the second largest subunit of pol III, cause a rare hypomyelinating leukodystrophy","volume":"89","author":"Tetreault","year":"2011","journal-title":"Am J Hum Genet"},{"key":"2023120106234146700_awad249-B3","doi-asserted-by":"crossref","first-page":"7623","DOI":"10.1038\/ncomms8623","article-title":"Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III","volume":"6","author":"Thiffault","year":"2015","journal-title":"Nat Commun"},{"key":"2023120106234146700_awad249-B4","doi-asserted-by":"crossref","first-page":"e289","DOI":"10.1212\/NXG.0000000000000289","article-title":"Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation","volume":"4","author":"Dorboz","year":"2018","journal-title":"Neurol Genet"},{"key":"2023120106234146700_awad249-B5","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1016\/j.ajhg.2011.10.003","article-title":"Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy","volume":"89","author":"Saitsu","year":"2011","journal-title":"Am J Hum Genet"},{"key":"2023120106234146700_awad249-B6","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.pediatrneurol.2020.06.005","article-title":"Elevated leukodystrophy 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