Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

[1]  Frederik Barkhof,et al.  Magnetic resonance imaging pattern recognition in hypomyelinating disorders. , 2010, Brain : a journal of neurology.

[2]  A. Vanderver,et al.  Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies , 2014, Journal of child neurology.

[3]  M. DePristo,et al.  A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.

[4]  A. Vanderver,et al.  Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. , 2011, American journal of human genetics.

[5]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[6]  Matej Oresic,et al.  Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. , 2011, American journal of human genetics.

[7]  D. N. Perkins,et al.  Probability‐based protein identification by searching sequence databases using mass spectrometry data , 1999, Electrophoresis.

[8]  François Robert,et al.  VAP: a versatile aggregate profiler for efficient genome-wide data representation and discovery , 2014, Nucleic Acids Res..

[9]  John G. Cleary,et al.  Joint Variant and De Novo Mutation Identification on Pedigrees from High-Throughput Sequencing Data , 2014, bioRxiv.

[10]  Amber L. Couzens,et al.  The CRAPome: a Contaminant Repository for Affinity Purification Mass Spectrometry Data , 2013, Nature Methods.

[11]  Anne-Claude Gingras,et al.  Affinity-purification mass spectrometry (AP-MS) of serine/threonine phosphatases. , 2007, Methods.

[12]  P. Cramer,et al.  Biogenesis of multisubunit RNA polymerases. , 2012, Trends in biochemical sciences.

[13]  A. Vanderver,et al.  Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. , 2011, American journal of human genetics.

[14]  R. Schiffmann,et al.  The latest on leukodystrophies , 2004, Current opinion in neurology.

[15]  M. Blanchette,et al.  Nuclear import of RNA polymerase II is coupled with nucleocytoplasmic shuttling of the RNA polymerase II-associated protein 2 , 2013, Nucleic acids research.

[16]  R. Schiffmann,et al.  4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. , 2012, Archives of neurology.

[17]  M. Blanchette,et al.  Discovery of cell compartment specific protein-protein interactions using affinity purification combined with tandem mass spectrometry. , 2013, Journal of proteome research.

[18]  C. Glass,et al.  Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities. , 2010, Molecular cell.

[19]  Clifford A. Meyer,et al.  Model-based Analysis of ChIP-Seq (MACS) , 2008, Genome Biology.

[20]  J. Wong,et al.  Interaction of nucleolin with ribosomal RNA genes and its role in RNA polymerase I transcription , 2012, Nucleic acids research.

[21]  A. Vanderver,et al.  Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations , 2014, Neurology.

[22]  R. Schiffmann,et al.  OBSERVATION 4 H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR 3 A Mutations , 2012 .

[23]  R. Roeder,et al.  Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription , 2010, Cell cycle.

[24]  Bronwen L. Aken,et al.  GENCODE: The reference human genome annotation for The ENCODE Project , 2012, Genome research.

[25]  L. Hoefsloot,et al.  Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome , 2011, Nature Genetics.

[26]  S. Rodríguez-Navarro,et al.  The Prefoldin Bud27 Mediates the Assembly of the Eukaryotic RNA Polymerases in an Rpb5-Dependent Manner , 2013, PLoS genetics.

[27]  V. Praz,et al.  Defining the RNA polymerase III transcriptome: Genome-wide localization of the RNA polymerase III transcription machinery in human cells. , 2010, Genome research.

[28]  Steven L Salzberg,et al.  Fast gapped-read alignment with Bowtie 2 , 2012, Nature Methods.

[29]  N. Matsumoto,et al.  Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. , 2011, American journal of human genetics.

[30]  Pierre Legrand,et al.  Crystal structure of the 14-subunit RNA polymerase I , 2013, Nature.

[31]  B. Coulombe,et al.  Proteomic Analysis Reveals a Role for the GTPase RPAP4/GPN1 and the Cochaperone RPAP3 in Biogenesis of All Three Nuclear RNA Polymerases , 2014 .

[32]  E. Bertini,et al.  Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. , 2012, Brain : a journal of neurology.

[33]  J. Drouin,et al.  A pituitary-specific enhancer of the POMC gene with preferential activity in corticotrope cells. , 2011, Molecular endocrinology.

[34]  Stephan J Sanders,et al.  Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations , 2010, Nature.

[35]  R. Schiffmann,et al.  Invited Article: An MRI-based approach to the diagnosis of white matter disorders , 2009, Neurology.

[36]  A. Emili,et al.  Systems Analysis of Chromatin-Related Protein Complexes in Cancer , 2014, Springer New York.

[37]  Mathieu Blanchette,et al.  Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme. , 2007, Molecular cell.

[38]  P. Lockhart,et al.  Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. , 2013, American journal of human genetics.

[39]  Patricia P. Chan,et al.  GtRNAdb: a database of transfer RNA genes detected in genomic sequence , 2008, Nucleic Acids Res..

[40]  Mark Stitt,et al.  RobiNA: a user-friendly, integrated software solution for RNA-Seq-based transcriptomics , 2012, Nucleic Acids Res..

[41]  A. Vanderver,et al.  Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism , 2013, Journal of Medical Genetics.

[42]  P. Pouwels,et al.  Mutations in RARS cause hypomyelination , 2014, Annals of neurology.

[43]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[44]  Pablo Cingolani,et al.  © 2012 Landes Bioscience. Do not distribute. , 2022 .

[45]  Mathieu Blanchette,et al.  High-resolution mapping of the protein interaction network for the human transcription machinery and affinity purification of RNA polymerase II-associated complexes. , 2009, Methods.

[46]  Alvis Brazma,et al.  Pol Iii Binding in Six Mammalian Genomes Shows High Conservation among Amino Acid Isotypes, despite Divergence in Trna Gene Usage Ukpmc Funders Group Author Manuscript Introduction , 2022 .

[47]  K. Sakamoto,et al.  Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III , 2012, Journal of the Neurological Sciences.

[48]  S. Eddy,et al.  tRNAscan-SE: a program for improved detection of transfer RNA genes in genomic sequence. , 1997, Nucleic acids research.

[49]  J. Wasmuth,et al.  Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome , 1996, Nature Genetics.

[50]  R. Schiffmann,et al.  Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation , 2007, Nature Genetics.

[51]  A. Lamond,et al.  HSP90 and its R2TP/Prefoldin-like cochaperone are involved in the cytoplasmic assembly of RNA polymerase II. , 2010, Molecular cell.

[52]  M. Blanchette,et al.  The Protein Interaction Network of the Human Transcription Machinery Reveals a Role for the Conserved GTPase RPAP4/GPN1 and Microtubule Assembly in Nuclear Import and Biogenesis of RNA Polymerase II , 2010, Molecular & Cellular Proteomics.

[53]  Helga Thorvaldsdóttir,et al.  Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration , 2012, Briefings Bioinform..

[54]  B. Cairns,et al.  RNA Polymerase III Transcriptomes in Human Embryonic Stem Cells and Induced Pluripotent Stem Cells, and Relationships with Pluripotency Transcription Factors , 2014, PloS one.

[55]  M. Gerstein,et al.  Close association of RNA polymerase II and many transcription factors with Pol III genes , 2010, Proceedings of the National Academy of Sciences.

[56]  Rick Twee-Hee Ong,et al.  Assessing single nucleotide variant detection and genotype calling on whole-genome sequenced individuals , 2014, Bioinform..

[57]  Y. Benjamini,et al.  Controlling the false discovery rate: a practical and powerful approach to multiple testing , 1995 .