POLR3A

Summary

Gene Symbol: POLR3A
Description: polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
Alias: ADDH, HLD7, RPC1, RPC155, hRPC155, DNA-directed RNA polymerase III largest subunit, DNA-directed RNA polymerase III subunit A, DNA-directed RNA polymerase III subunit RPC1, RNA polymerase III 155 kDa subunit, RNA polymerase III subunit C1, RNA polymerase III subunit C160, RNA polymerase III subunit RPC155-D
Species: human

Top Publications

  1. ncbi Identification of an immunodominant epitope on RNA polymerase III recognized by systemic sclerosis sera: application to enzyme-linked immunosorbent assay
    Masataka Kuwana
    Institute for Advanced Medical Research, Keio University School of Medicine, 55 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    Arthritis Rheum 46:2742-7. 2002
  2. doi Molecular characterization of a fungicidal endoglucanase from the cyanobacterium Calothrix elenkinii
    Chitra Natarajan
    Division of Microbiology, Indian Agricultural Research Institute, New Delhi, 110012, India
    Biochem Genet 51:766-79. 2013
  3. ncbi [A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A]
    Asako Tamura
    Department of Neurology, Mie University Graduate School of Medicine, Japan
    Rinsho Shinkeigaku 53:624-9. 2013
  4. pmc Prevalence, correlates and clinical usefulness of antibodies to RNA polymerase III in systemic sclerosis: a cross-sectional analysis of data from an Australian cohort
    Mandana Nikpour
    The University of Melbourne, Department of Medicine, St, Vincent s Hospital Melbourne, 41 Victoria Parade, Fitzroy, Victoria 3065, Australia
    Arthritis Res Ther 13:R211. 2011
  5. ncbi 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations
    Ana Potic
    Clinic for Child Neurology and Psychiatry, Department of Child Neurology, University of Belgrade, Serbia
    Arch Neurol 69:920-3. 2012
  6. pmc Genome-wide association uncovers shared genetic effects among personality traits and mood states
    Michelle Luciano
    Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK
    Am J Med Genet B Neuropsychiatr Genet 159:684-95. 2012
  7. doi Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III
    Yasuo Terao
    Department of Neurology, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, 113 8655, Japan
    J Neurol Sci 320:102-5. 2012
  8. pmc More than hypomyelination in Pol-III disorder
    Adeline Vanderver
    Center for Genetic Medicine, Children s National Medical Center, Washington, District of Columbia 20010 2970, USA
    J Neuropathol Exp Neurol 72:67-75. 2013
  9. doi Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism
    Hussein Daoud
    Center of Excellence in Neuroscience of Université de Montréal, CRCHUM, Montreal, Quebec, Canada
    J Med Genet 50:194-7. 2013
  10. pmc Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy
    Martine Tetreault
    Neurogenetics of Motion Laboratory, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada
    Am J Hum Genet 89:652-5. 2011

Scientific Experts

  • Yasuo Terao
  • Hirotomo Saitsu
  • Mandana Nikpour
  • Adeline Vanderver
  • M Kuwana
  • Michelle Luciano
  • D Alexandraki
  • Genevieve Bernard
  • Bernard Brais
  • Martine Tetreault
  • Raphael Schiffmann
  • Hussein Daoud
  • Chitra Natarajan
  • Asako Tamura
  • Ana Potic
  • Karine Choquet
  • Martin Teichmann
  • Sebastien Fribourg
  • Andrea Ablasser
  • Barbara J Natalizio
  • Tatiana V Kramarova
  • WenWen Wu
  • Santiago Martinez-Calvillo
  • Galina M Proshkina
  • Ping Hu
  • Atsushi Niwa
  • Cyril Goizet
  • Matthis Synofzik
  • Hidekazu Tomimoto
  • Kether Guerrero
  • Yuichiro Ii
  • Kanika Kumar
  • Cathy A Stevens
  • Janina Gburek-Augustat
  • Ana Cohen
  • Vishal Gupta
  • Rocio Sanchez-Carpintero
  • Radha Prasanna
  • Ryogen Sasaki
  • Sakkubai Naidu
  • William Gibson
  • C Mertens
  • Eliane Chouery
  • Asako Takanohashi
  • Imen Dorboz
  • Umberto Balottin
  • Giovanni Carosso
  • Nadine Jalkh
  • Simona Orcesi
  • Diana Rodriguez
  • Valerie Delague
  • Maria Lisa Putorti
  • Joelle Abou Ghoch
  • Davide Tonduti
  • Isabelle Clément
  • Andre Megarbane
  • Odile Boespflug-Tanguy
  • K R Bowles
  • Mariano A Garcia-Blanco
  • Katherine A Fitzgerald
  • Gunther Hartmann
  • Eicke Latz
  • Nicole D Robson-Dixon
  • Veit Hornung
  • Franz Bauernfeind
  • Jan Nedergaard
  • Barbara Cannon
  • Hana Antonicka
  • A Voutsina
  • Josef Houstek
  • Toshihiro Nakajima
  • Amanda Green
  • Aaron Leland
  • Satoko Aratani
  • Ko Sato
  • Tomohiko Ohta
  • Ryosuke Hayami
  • Mamoru Fukuda
  • Hiroyuki Nishikawa
  • Peter J Myler
  • Alka Saxena
  • Akeri Honda
  • Elena K Shematorova
  • Pierre Thuriaux
  • Cécile Zaros
  • Sergey A Proshkin
  • George V Shpakovski
  • S Knackmuss
  • S Sepehri
  • H Voss

Detail Information

Publications29

  1. ncbi Identification of an immunodominant epitope on RNA polymerase III recognized by systemic sclerosis sera: application to enzyme-linked immunosorbent assay
    Masataka Kuwana
    Institute for Advanced Medical Research, Keio University School of Medicine, 55 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    Arthritis Rheum 46:2742-7. 2002
    ..To characterize an immunodominant epitope on RNA polymerase III (RNAP III) recognized by systemic sclerosis (SSc) sera and to develop an enzyme-linked immunosorbent assay (ELISA) for the detection of serum anti-RNAP I/III antibodies...
  2. doi Molecular characterization of a fungicidal endoglucanase from the cyanobacterium Calothrix elenkinii
    Chitra Natarajan
    Division of Microbiology, Indian Agricultural Research Institute, New Delhi, 110012, India
    Biochem Genet 51:766-79. 2013
    A gene responsible for fungicidal activity was identified in the cyanobacterial strain Calothrix elenkinii RPC1, which had shown promise as a biocontrol agent...
  3. ncbi [A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A]
    Asako Tamura
    Department of Neurology, Mie University Graduate School of Medicine, Japan
    Rinsho Shinkeigaku 53:624-9. 2013
    ..Homozygous missensze mutation c.2350G>A (p.Gly784Ser) was found in POLR3A,which codes for the largest subunit of RNA polymerase III...
  4. pmc Prevalence, correlates and clinical usefulness of antibodies to RNA polymerase III in systemic sclerosis: a cross-sectional analysis of data from an Australian cohort
    Mandana Nikpour
    The University of Melbourne, Department of Medicine, St, Vincent s Hospital Melbourne, 41 Victoria Parade, Fitzroy, Victoria 3065, Australia
    Arthritis Res Ther 13:R211. 2011
    ....
  5. ncbi 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations
    Ana Potic
    Clinic for Child Neurology and Psychiatry, Department of Child Neurology, University of Belgrade, Serbia
    Arch Neurol 69:920-3. 2012
    ..To report a novel clinical and genetic presentation of a patient with 4H syndrome, which is a recently described leukodystrophy syndrome characterized by ataxia, hypomyelination, hypodontia, and hypogonadotropic hypogonadism...
  6. pmc Genome-wide association uncovers shared genetic effects among personality traits and mood states
    Michelle Luciano
    Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK
    Am J Med Genet B Neuropsychiatr Genet 159:684-95. 2012
    ..Other notable associations (P < 6.09 × 10(-6)) included SNPs in five genes for neuroticism (LCE3C, POLR3A, LMAN1L, ULK3, SCAMP2), KIAA0802 for extraversion, and NOS1 for general psychological distress...
  7. doi Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III
    Yasuo Terao
    Department of Neurology, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, 113 8655, Japan
    J Neurol Sci 320:102-5. 2012
    ..Two compound heterozygous mutations in POLR3A were found: p.Met852Val and p.Asn1249His...
  8. pmc More than hypomyelination in Pol-III disorder
    Adeline Vanderver
    Center for Genetic Medicine, Children s National Medical Center, Washington, District of Columbia 20010 2970, USA
    J Neuropathol Exp Neurol 72:67-75. 2013
    ..the clinical, neuroradiologic, and neuropathologic findings of a patient affected by 4H syndrome with confirmed POLR3A mutations...
  9. doi Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism
    Hussein Daoud
    Center of Excellence in Neuroscience of Université de Montréal, CRCHUM, Montreal, Quebec, Canada
    J Med Genet 50:194-7. 2013
    ..Mutations in POLR3A and POLR3B genes were recently reported to cause four clinically overlapping hypomyelinating leukodystrophy ..
  10. pmc Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy
    Martine Tetreault
    Neurogenetics of Motion Laboratory, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada
    Am J Hum Genet 89:652-5. 2011
    Mutations in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinating leukodystrophy phenotypes...
  11. pmc Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy
    Hirotomo Saitsu
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
    Am J Hum Genet 89:644-51. 2011
    ..We also identified compound heterozygous missense mutations in POLR3A in the remaining individual...
  12. pmc Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy
    Genevieve Bernard
    Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montreal Children s Hospital, McGill University Heath Center, Montreal, Quebec, Canada
    Am J Hum Genet 89:415-23. 2011
    ..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)...
  13. doi RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate
    Andrea Ablasser
    Institute for Clinical Chemistry and Pharmacology, University of Bonn, Bonn, Germany
    Nat Immunol 10:1065-72. 2009
    ..This pathway was important in the sensing of Epstein-Barr virus-encoded small RNAs, which were transcribed by RNA polymerase III and then triggered RIG-I activation. Thus, RNA polymerase III and RIG-I are pivotal in sensing viral DNA...
  14. pmc The Carboxyl-terminal Domain of RNA Polymerase II Is Not Sufficient to Enhance the Efficiency of Pre-mRNA Capping or Splicing in the Context of a Different Polymerase
    Barbara J Natalizio
    Department of Molecular Genetics and Microbiology, Center for RNA Biology, and Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Biol Chem 284:8692-702. 2009
    ..Our results indicate that the CTD fused to the largest subunit of RNAP III (POLR3A) is not sufficient to enhance co-transcriptional pre-mRNA splicing or capping in vivo...
  15. doi A sequence predicted to form a stem-loop is proposed to be required for formation of an RNA-protein complex involving the 3'UTR of beta-subunit F0F1-ATPase mRNA
    Tatiana V Kramarova
    The Wenner Gren Institute, The Arrhenius Laboratories F3, Stockholm University, SE 106 91 Stockholm, Sweden
    Biochim Biophys Acta 1777:747-57. 2008
    ..Using electrophoretic mobility shift assays we found that two major RNA-protein complexes (here called RPC1 and RPC2) were formed with the full-length 3'UTR...
  16. ncbi Development of RNA polymerase-promoter contacts during open complex formation
    J Mecsas
    Department of Bacteriology, University of Wisconsin Madison 53706
    J Mol Biol 220:585-97. 1991
    ..E sigma 32 initially anchors itself in the upstream region of the promoter forming the first closed complex, RPC1; in this complex the enzyme makes backbone contacts in the -35 region of the promoter that are maintained ..
  17. ncbi Intermediates in the formation of the open complex by RNA polymerase holoenzyme containing the sigma factor sigma 32 at the groE promoter
    D W Cowing
    Department of Bacteriology, University of Wisconsin Madison 53706
    J Mol Biol 210:521-30. 1989
    ..the groE promoter involves three classes of steps: E sigma 32 initially binds to the promoter in a closed complex (RPC1) in which the enzyme interacts with a smaller region of the DNA than in the open complex...
  18. ncbi Identification of the gene coding for the largest subunit of RNA polymerase I (A) of Drosophila melanogaster
    S Knackmuss
    Institute of Molecular Genetics, University of Heidelberg, Germany
    Mol Gen Genet 253:529-34. 1997
    ..RPA1 subunits of Drosophila melanogaster and lower eukaryotes share an additional Zn-binding motif at the N-terminus with archaebacterial and RPC1 subunits, testifying to the complex evolutionary relationships among the RNA polymerases.
  19. ncbi DNA sequencing and analysis of 130 kb from yeast chromosome XV
    H Voss
    Biochemical Instrumentation Programme, European Molecular Biology Laboratory, Heidelberg, Germany
    Yeast 13:655-72. 1997
    ..yeast genes (36% of all ORFs in this fragment) were nucleoporin (NUP1), ras protein (RAS1), RNA polymerase III (RPC1) and elongation factor 2 (EF2)...
  20. pmc The largest subunit of human RNA polymerase III is closely related to the largest subunit of yeast and trypanosome RNA polymerase III
    S Sepehri
    Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA
    Genome Res 7:1006-19. 1997
    ....
  21. pmc Sequence divergence of the RNA polymerase shared subunit ABC14.5 (Rpb8) selectively affects RNA polymerase III assembly in Saccharomyces cerevisiae
    A Voutsina
    Foundation for Research and Technology Hellas, Institute of Molecular Biology and Biotechnology and Department of Biology, University of Crete, PO Box 1527, Heraklion 711 10 Crete, Greece
    Nucleic Acids Res 27:1047-55. 1999
    ..cerevisiae. Overexpression of the S.cerevisiae largest subunit of RNA polymerase III C160 (Rpc1) allows S.pombe rpb8 to functionally replace ABC14.5 in S...
  22. ncbi Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes
    K R Bowles
    Department of Molecular and Human Genetics, Department of Pediatrics Cardiology, Department of Medicine, Department of Cardiovascular Sciences, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Genomics 67:109-27. 2000
    ..9 Mb long). Seven genes, including ANX11, PPIF, DLG5, RPC155, RPS24, SFTPA1, and KCNMA1, have been mapped to the region of interest...
  23. pmc Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2
    C Mertens
    Division of Cell Biology, German Cancer Research Center, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    Proc Natl Acad Sci U S A 98:7795-800. 2001
    ..existence of two nuclear particles containing plakophilin 2 and the largest subunit of RNA polymerase (pol) III (RPC155), both of which colocalize and are coimmunoselected with other pol III subunits and with the transcription factor ..
  24. pmc Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits
    Ping Hu
    Graduate Program of Molecular and Cellular Biology, State University of New York at Stony Brook, Stony Brook, New York 11794, USA
    Mol Cell Biol 22:8044-55. 2002
    ..Our results provide a characterization of human RNA polymerase III and show that the RPC5 subunit is essential for transcription...
  25. pmc Ancient origin, functional conservation and fast evolution of DNA-dependent RNA polymerase III
    Galina M Proshkina
    Laboratory of Mechanisms of Gene Expression, Shemyakin Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, 117997 Moscow, Russia
    Nucleic Acids Res 34:3615-24. 2006
    ..Ten core subunits showed heterospecific complementation, but the two largest catalytic subunits (Rpc1 and Rpc2) and all five RNA polymerase III-specific subunits (Rpc82, Rpc53, Rpc37, Rpc34 and Rpc31) were non-..
  26. pmc Characterization of the RNA polymerase II and III complexes in Leishmania major
    Santiago Martinez-Calvillo
    Seattle Biomedical Research Institute, 307 Westlake Avenue N, Seattle, WA 98109 5219, USA
    Int J Parasitol 37:491-502. 2007
    ..0890) of the two LmRPB6 orthologues. The latter experiments also identified the RNAP III subunits RPC1 (C160), RPC2 (C128), RPC3 (C82), RPC4 (C53), RPC5 (C37), RPC6 (C34), RPC9 (C17), RPAC1 (AC40) and RPAC2 (AC19)...
  27. ncbi BRCA1 ubiquitinates RPB8 in response to DNA damage
    WenWen Wu
    Division of Breast and Endocrine Surgery, Institute of Medical Science, St Marianna University School of Medicine, Kawasaki 216 8511, Japan
    Cancer Res 67:951-8. 2007
    ..Our findings suggest that ubiquitination of a common subunit of RNA polymerases is a mechanism underlying BRCA1-dependent cell survival after DNA damage...
  28. ncbi The human immunodeficiency virus tat protein increases the transcription of human Alu repeated sequences by increasing the activity of the cellular transcription factor TFIIIC
    K L Jang
    Department of Biochemistry, University College and Middlesex School of Medicine, London, U K
    J Acquir Immune Defic Syndr 5:1142-7. 1992
    ..The significance of this effect for the life cycle of HIV and its interaction with infected cells is discussed...