Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% to 40% of individuals remain without a precise diagnosis despite extensive investigations. We mapped tremor-ataxia wi...

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Published inAmerican journal of human genetics Vol. 89; no. 3; pp. 415 - 423
Main Authors Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard
Format Journal Article
LanguageEnglish
Published Cambridge, MA Elsevier Inc 09.09.2011
Cell Press
Elsevier
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Abstract Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% to 40% of individuals remain without a precise diagnosis despite extensive investigations. We mapped tremor-ataxia with central hypomyelination (TACH) to 10q22.3-23.1 in French-Canadian families and sequenced candidate genes within this interval. Two missense and one insertion mutations in five individuals with TACH were uncovered in POLR3A, which codes for the largest subunit of RNA polymerase III (Pol III). Because these families were mapped to the same locus as leukodystrophy with oligodontia (LO) and presented clinical and radiological overlap with individuals with hypomyelination, hypodontia and hypogonadotropic hypogonadism (4H) syndrome, we sequenced this gene in nine individuals with 4H and eight with LO. In total, 14 recessive mutations were found in 19 individuals with TACH, 4H, or LO, establishing that these leukodystrophies are allelic. No individual was found to carry two nonsense mutations. Immunoblots on 4H fibroblasts and on the autopsied brain of an individual diagnosed with 4H documented a significant decrease in POLR3A levels, and there was a more significant decrease in the cerebral white matter compared to that in the cortex. Pol III has a wide set of target RNA transcripts, including all nuclear-coded tRNA. We hypothesize that the decrease in POLR3A leads to dysregulation of the expression of certain Pol III targets and thereby perturbs cytoplasmic protein synthesis. This type of broad alteration in protein synthesis is predicted to occur in other leukoencephalopathies such as hypomyelinating leukodystrophy-3, caused by mutations in aminoacyl-tRNA synthetase complex-interacting multifunctional protein 1 (AIMP1).
AbstractList Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% to 40% of individuals remain without a precise diagnosis despite extensive investigations. We mapped tremor-ataxia with central hypomyelination (TACH) to 10q22.3-23.1 in French-Canadian families and sequenced candidate genes within this interval. Two missense and one insertion mutations in five individuals with TACH were uncovered in POLR3A, which codes for the largest subunit of RNA polymerase III (Pol III). Because these families were mapped to the same locus as leukodystrophy with oligodontia (LO) and presented clinical and radiological overlap with individuals with hypomyelination, hypodontia and hypogonadotropic hypogonadism (4H) syndrome, we sequenced this gene in nine individuals with 4H and eight with LO. In total, 14 recessive mutations were found in 19 individuals with TACH, 4H, or LO, establishing that these leukodystrophies are allelic. No individual was found to carry two nonsense mutations. Immunoblots on 4H fibroblasts and on the autopsied brain of an individual diagnosed with 4H documented a significant decrease in POLR3A levels, and there was a more significant decrease in the cerebral white matter compared to that in the cortex. Pol III has a wide set of target RNA transcripts, including all nuclear-coded tRNA. We hypothesize that the decrease in POLR3A leads to dysregulation of the expression of certain Pol III targets and thereby perturbs cytoplasmic protein synthesis. This type of broad alteration in protein synthesis is predicted to occur in other leukoencephalopathies such as hypomyelinating leukodystrophy-3, caused by mutations in aminoacyl-tRNA synthetase complex-interacting multifunctional protein 1 (AIMP1). [PUBLICATION ABSTRACT]
Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% to 40% of individuals remain without a precise diagnosis despite extensive investigations. We mapped tremor-ataxia with central hypomyelination (TACH) to 10q22.3-23.1 in French-Canadian families and sequenced candidate genes within this interval. Two missense and one insertion mutations in five individuals with TACH were uncovered in POLR3A, which codes for the largest subunit of RNA polymerase III (Pol III). Because these families were mapped to the same locus as leukodystrophy with oligodontia (LO) and presented clinical and radiological overlap with individuals with hypomyelination, hypodontia and hypogonadotropic hypogonadism (4H) syndrome, we sequenced this gene in nine individuals with 4H and eight with LO. In total, 14 recessive mutations were found in 19 individuals with TACH, 4H, or LO, establishing that these leukodystrophies are allelic. No individual was found to carry two nonsense mutations. Immunoblots on 4H fibroblasts and on the autopsied brain of an individual diagnosed with 4H documented a significant decrease in POLR3A levels, and there was a more significant decrease in the cerebral white matter compared to that in the cortex. Pol III has a wide set of target RNA transcripts, including all nuclear-coded tRNA. We hypothesize that the decrease in POLR3A leads to dysregulation of the expression of certain Pol III targets and thereby perturbs cytoplasmic protein synthesis. This type of broad alteration in protein synthesis is predicted to occur in other leukoencephalopathies such as hypomyelinating leukodystrophy-3, caused by mutations in aminoacyl-tRNA synthetase complex-interacting multifunctional protein 1 (AIMP1).
Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% to 40% of individuals remain without a precise diagnosis despite extensive investigations. We mapped tremor-ataxia with central hypomyelination (TACH) to 10q22.3-23.1 in French-Canadian families and sequenced candidate genes within this interval. Two missense and one insertion mutations in five individuals with TACH were uncovered in POLR3A , which codes for the largest subunit of RNA polymerase III (Pol III). Because these families were mapped to the same locus as leukodystrophy with oligodontia (LO) and presented clinical and radiological overlap with individuals with hypomyelination, hypodontia and hypogonadotropic hypogonadism (4H) syndrome, we sequenced this gene in nine individuals with 4H and eight with LO. In total, 14 recessive mutations were found in 19 individuals with TACH, 4H, or LO, establishing that these leukodystrophies are allelic. No individual was found to carry two nonsense mutations. Immunoblots on 4H fibroblasts and on the autopsied brain of an individual diagnosed with 4H documented a significant decrease in POLR3A levels, and there was a more significant decrease in the cerebral white matter compared to that in the cortex. Pol III has a wide set of target RNA transcripts, including all nuclear-coded tRNA. We hypothesize that the decrease in POLR3A leads to dysregulation of the expression of certain Pol III targets and thereby perturbs cytoplasmic protein synthesis. This type of broad alteration in protein synthesis is predicted to occur in other leukoencephalopathies such as hypomyelinating leukodystrophy-3, caused by mutations in aminoacyl-tRNA synthetase complex-interacting multifunctional protein 1 ( AIMP1 ).
Author Chouery, Eliane
Tétreault, Martine
Megarbane, André
Takanohashi, Asako
Carosso, Giovanni
Bernard, Geneviève
Clément, Isabelle
Rodriguez, Diana
Jalkh, Nadine
Boespflug-Tanguy, Odile
Abou Ghoch, Joelle
Delague, Valérie
Dorboz, Imen
Teichmann, Martin
Putorti, Maria Lisa
Fribourg, Sebastien
Schiffmann, Raphael
Brais, Bernard
Vanderver, Adeline
AuthorAffiliation 10 UPMC Université de Paris 06, 75252 Paris Cedex 05, France
8 INSERM U676, 75935 Paris Cedex 19, France
1 Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Heath Center, Montreal, Quebec H3H 1P3, Canada
3 Neurogenetics of Motion Laboratory, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada
4 Neurology Department, Children's National Medical Center, Washington, D.C. 20010, USA
5 Assistance Publique des Hôpitaux de Paris (APHP), Reference Center for Leukodystrophies, Hôpital Robert Debré, Paris 75019, France
13 Institut Jérôme Lejeune, Paris 75015, France
7 Institut National de la Santé et de la Recherche Médicale (INSERM) U931, 63001 Clermont Ferrand, France
6 Université Paris Diderot, Sorbonne Paris Cité, 75205 Paris Cedex 13, France
2 Unité de Génétique Médicale et laboratoire associé, INSERM à l'unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, 11-5076
AuthorAffiliation_xml – name: 7 Institut National de la Santé et de la Recherche Médicale (INSERM) U931, 63001 Clermont Ferrand, France
– name: 1 Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Heath Center, Montreal, Quebec H3H 1P3, Canada
– name: 5 Assistance Publique des Hôpitaux de Paris (APHP), Reference Center for Leukodystrophies, Hôpital Robert Debré, Paris 75019, France
– name: 4 Neurology Department, Children's National Medical Center, Washington, D.C. 20010, USA
– name: 8 INSERM U676, 75935 Paris Cedex 19, France
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– name: 14 Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA
– name: 13 Institut Jérôme Lejeune, Paris 75015, France
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– name: 11 INSERM UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine de la Timone, Marseille 13385, France
– name: 6 Université Paris Diderot, Sorbonne Paris Cité, 75205 Paris Cedex 13, France
– name: 12 Institut Européen de Chimie et Biologie (I.E.C.B.), INSERM, Université de Bordeaux, Pessac 33607, France
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  surname: Bernard
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  organization: Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Heath Center, Montreal, Quebec H3H 1P3, Canada
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  givenname: Eliane
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  surname: Boespflug-Tanguy
  fullname: Boespflug-Tanguy, Odile
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  surname: Rodriguez
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  givenname: Imen
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BackLink http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24524143$$DView record in Pascal Francis
https://www.ncbi.nlm.nih.gov/pubmed/21855841$$D View this record in MEDLINE/PubMed
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ContentType Journal Article
Copyright 2011 The American Society of Human Genetics
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2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2011 The American Society of Human Genetics
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Issue 3
Keywords Human
Catalytic subunit
Nervous system diseases
Enzyme
Leukodystrophy
Transferases
DNA-directed RNA polymerase
Cerebral disorder
Genetic disease
Nucleotidyltransferases
Central nervous system disease
Recessive character
Genetics
Degenerative disease
Mutation
Language English
License http://www.elsevier.com/open-access/userlicense/1.0
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Snippet Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is...
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SubjectTerms Amino Acid Sequence
Base Sequence
Biological and medical sciences
Brain
Chromosomes, Human, Pair 10 - genetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genes, Recessive - genetics
Genetic Predisposition to Disease - genetics
Genetics of eukaryotes. Biological and molecular evolution
Hereditary Central Nervous System Demyelinating Diseases - genetics
Hereditary Central Nervous System Demyelinating Diseases - pathology
Humans
Medical genetics
Medical sciences
Minority & ethnic groups
Models, Molecular
Molecular and cellular biology
Molecular Sequence Data
Mutagenesis, Insertional - genetics
Mutation
Mutation, Missense - genetics
Neurodegeneration
Neurology
Proteins
Quebec
RNA polymerase
RNA Polymerase III - chemistry
RNA Polymerase III - genetics
Sequence Analysis, DNA
Tremor - genetics
Tremor - pathology
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Title Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
URI https://dx.doi.org/10.1016/j.ajhg.2011.07.014
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