Genomes and Genes
Gene Symbol: POLR3A
Description: RNA polymerase III subunit A
Alias: ADDH, HLD7, RPC1, RPC155, hRPC155, DNA-directed RNA polymerase III subunit RPC1, DNA-directed RNA polymerase III largest subunit, DNA-directed RNA polymerase III subunit A, RNA polymerase III 155 kDa subunit, RNA polymerase III subunit C1, RNA polymerase III subunit C160, RNA polymerase III subunit RPC155-D, polymerase (RNA) III (DNA directed) polypeptide A, 155kDa, polymerase (RNA) III subunit A
- Identification of an immunodominant epitope on RNA polymerase III recognized by systemic sclerosis sera: application to enzyme-linked immunosorbent assayMasataka 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...
- Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findingsMohamed Khalifa
Department of Medical Genetics and Genomics, Akron Children s Hospital, Akron, OH, USA Electronic address
Eur J Med Genet 58:381-6. 2015WDR45 and POLR3A are newly recognized genes; each is associated with a distinct neurodegenerative disease...
- Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutationsJun ichi Takanashi
Department of Pediatrics, Kameda Medical Center, Kamogawa, Japan Department of Radiology, Toho University Sakura Medical Center, Sakura, Japan Electronic address
Brain Dev 36:259-63. 2014Mutations of POLR3A and POLR3B have been reported to cause several allelic hypomyelinating disorders, including hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome).
- Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelinationKeiko Shimojima
Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo 162 8666, Japan
Brain Dev 36:315-21. 2014..Recently, mutations in the genes encoding the subunits of RNA polymerase III (Pol III), POLR3A and POLR3B, have been identified as new genetic causes for hypomyelinating disorders.
- Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophiesRoberta La Piana
1Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada
J Child Neurol 29:214-20. 2014Pol III-related leukodystrophies are caused by mutations in POLR3A and POLR3B genes and all share peculiar imaging and clinical features...
- Gene duplication and neofunctionalization: POLR3G and POLR3GLMarianne Renaud
Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, 1015 Lausanne, Switzerland
Genome Res 24:37-51. 2014....
- Association of the autoimmune disease scleroderma with an immunologic response to cancerChristine G Joseph
Ludwig Center, the Howard Hughes Medical Institutions, and the Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Science 343:152-7. 2014..disease in which patients make antibodies to a limited group of autoantigens, including RPC1, encoded by the POLR3A gene...
- Genome-wide RNAi screen identifies the Parkinson disease GWAS risk locus SREBF1 as a regulator of mitophagyRachael M Ivatt
Medical Research Council Centre for Developmental and Biomedical Genetics, Sheffield S10 2TN, United Kingdom Department of Biomedical Science, University of Sheffield, Sheffield S10 2TN, United Kingdom and
Proc Natl Acad Sci U S A 111:8494-9. 2014..However, with the recent identification of SREBF1 as a risk locus for sporadic PD, our findings suggest a common mechanistic link between autosomal recessive and sporadic PD, and underscore the importance of mitochondrial homeostasis. ..
- Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf
From the Departments of Child Neurology N I F, M B, M S v d K, Clinical Genetics R M L v S, E S, and Pathology M B, Neuroscience Campus N I F, M B, M S v d K, and the Department of Functional Genomics, Center for Neurogenomics and Cognitive Research M S v d K, VU University Medical Center, Amsterdam, the Netherlands the Center for Genetic Medicine Research, Department of Neurology A V, A P, Children s National Medical Center, Washington, DC the Institute of Metabolic Disease R S, Baylor Research Institute, Dallas, TX the Departments of Neurology and Neurosurgery and Human Genetics B B, Montreal Neurological Institute, Canada the Department of Paediatric Neurology C C B, Erasmus University Hospital Sophia Children s Hospital the Department of Pathology J M K, Erasmus Medical Center, Rotterdam, the Netherlands the Neuroradiology Department P S P, Centro Hospitalar do Porto, Portugal the Division of Neurology D P, Children s Hospital of Eastern Ontario, University of Ottawa, Canada the Department of Paediatric Neurology S T, Royal Belfast Hospital for Sick Children, UK the Department of Clinical Neurosciences for Children P S, Institut de Biotechnologie des Plantes
Neurology 83:1898-905. 2014To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B.
- Deciphering the factors associated with the colonization of rice plants by cyanobacteriaNgangom Bidyarani
Division of Microbiology, Indian Agricultural Research Institute IARI, New Delhi, India
J Basic Microbiol 55:407-19. 2015..Among the six cyanobacterial strains employed, Calothrix sp. (RPC1), Anabaena laxa (RPAN8), and Anabaena azollae (C16) were the best performing strains, in terms of colonization in ..
- POLR3A and POLR3B Mutations in Unclassified HypomyelinationFerdy K Cayami
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
Neuropediatrics 46:221-8. 2015This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination.
- Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase IIIIsabelle Thiffault
1 Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children s Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1, Canada 2 Service de Génétique, Centre hospitalier universitaire Sainte Justine, 3175 chemin de la Cote Sainte Catherine, Montreal, Quebec H3T1C5, Canada 3 Center for Pediatric Genomic Medicine, Children s Mercy Hospital, 2420 Pershing Road, Suite 421, Kansas City, Missouri 64108, USA
Nat Commun 6:7623. 2015..III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B...
- Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype descriptionRoberta Battini
Department of Developmental Neuroscience, IRCCS Stella Maris, viale del Tirreno 331, 56128, Calambrone, Pisa, Italy
BMC Med Genet 16:53. 2015..abnormal dentition, and hypogonadotropic hypogonadism, but the recent identification of two genes (POLR3A and POLR3B) responsible for the syndrome demonstrates that these three main characteristics can be variably ..
- Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and CataractsE Jurkiewicz
Department of Diagnostic Imaging, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730, Warsaw, Poland
Clin Neuroradiol . 2015..Recently, mutations of the genes encoding Pol III (RNA polymerase III) subunit A (POLR3A) and subunit B (POL3B) have been identified as the genetic causes of hypomyelination...
- Diffuse hypomyelination is not obligate for POLR3-related disordersRoberta La Piana
From the Laboratory of Neurogenetics of Motion R L P and Department of Neuroradiology R L P, Montreal Neurological Institute and Hospital, and the Departments of Neurology and Neurosurgery R L P, L T T, K G, G B and Pediatrics R L P, L T T, K G, G B, McGill University, Montreal, Canada Departments of Child Neurology F K C, M S v d K, N I W and Clinical Genetics F K C, R V S, VU University Medical Center, Amsterdam, the Netherlands Department of Genetics K Õ United Laboratories, Tartu University Hospital, Tartu Department of Pediatrics K Õ, University of Tartu, Estonia Institute of Human Genetics T H, Technische Universität München Institute of Human Genetics T H, Helmholtz Zentrum Munchen, Munich, Germany Department of Neurology E W, Birmingham Children s Hospital, UK Department of Neurology D T, University Clinic Essen, University of Duisburg Essen, Germany Department of Child and Adolescent Neurology H M, Institute of Mother and Child, Warsaw, Poland Department of Child Neurology B T P, AMC Academic Medical Center, Amsterdam, Houston
Neurology 86:1622-6. 2016To report atypical MRI patterns associated with POLR3A and POLR3B mutations.
- Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvementDimitar N Azmanov
Harry Perkins Institute of Medical Research and Centre for Medical Research, Level 7, QQ Block, QEII Medical Centre, 6 Verdun Street, and School of Chemistry and Biochemistry, The University of Western Australia, Crawley, WA 6009, Australia
Hum Mol Genet 25:4302-4314. 2016..We have identified a founder mutation in the POLR3A gene that leads to aberrant splicing, a premature termination codon and partial deficiency of the canonical full-..
- Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomaliesMary R Richards
Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA
J Med Genet 54:19-25. 2017..POLR3B, which encodes the second largest subunit of RNA polymerase III (pol III), and POLR3A, which forms the pol III catalytic centre, are associated with 4H leucodystrophy.
- Active Center Control of Termination by RNA Polymerase III and tRNA Gene Transcription Levels In VivoKeshab Rijal
Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS Genet 12:e1006253. 2016..We used two tRNA-mediated suppression systems to screen for Rpc1 mutants with gain- and loss- of termination phenotypes in S. pombe...
- Expert opinion and caution are imperative for interpretation of next generation sequencing dataIsabelle Thiffault
Children s Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
Eur J Med Genet 59:519-21. 2016..on the recent publication by Khalifa and Naffa who are reporting a young girl with variants in both WDR45 and POLR3A, which they state contribute to her clinical manifestations...
- [A Case of Pol III-related Leukodystrophy with Homozygous Mutation in POLR3A]Tomoaki Shima
Department of Neurology, Sasebo City General Hospital, Department of Neurology, Sasebo City General Hospital
Brain Nerve 68:1393-1397. 2016..Homozygous missense mutation c.2350G>A was found in POLR3A and the patient was diagnosed with Pol III-related leukodystrophy, which is a rare disease...
- Severe neurodegenerative disease in brothers with homozygous mutation in POLR1ABulent Kara
Division of Child Neurology, Department of Paediatrics, Kocaeli University Medical Faculty, Kocaeli, Turkey
Eur J Hum Genet . 2017..Variants in three other RNA polymerase subunits, POLR1C, POLR3A and POLR3B, are known to cause recessive leukodystrophy similar to the disease afflicting the present family but ..
- Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophyMariana Gutierrez
Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children s Hospital, McGill University Health Center, 1001 Boulevard Décarie, Montreal, QC, H4A 3J1, Canada
Orphanet J Rare Dis 10:69. 2015POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features...
- Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3AAllison M Jay
Department of Cancer Genetics, St John Hospital, Grosse Pointe, Michigan
Am J Med Genet A 170:3343-3346. 2016..features of Wiedemann-Rautenstrauch syndrome in whom exome sequencing identified two pathogenic variants in POLR3A: c.1909+18G>A; p.(Y637Cfs*23) and c.2617C>T; p.(R873*)...
- Molecular characterization of a fungicidal endoglucanase from the cyanobacterium Calothrix elenkiniiChitra Natarajan
Division of Microbiology, Indian Agricultural Research Institute, New Delhi, 110012, India
Biochem Genet 51:766-79. 2013A gene responsible for fungicidal activity was identified in the cyanobacterial strain Calothrix elenkinii RPC1, which had shown promise as a biocontrol agent...
- More than hypomyelination in Pol-III disorderAdeline 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...
- [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...
- Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase IIIYasuo 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...
- Genome-wide association uncovers shared genetic effects among personality traits and mood statesMichelle 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...
- 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutationsAna 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...
- Prevalence, correlates and clinical usefulness of antibodies to RNA polymerase III in systemic sclerosis: a cross-sectional analysis of data from an Australian cohortMandana 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....
- Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadismHussein 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 ..
- 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 mRNATatiana 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...
- Development of RNA polymerase-promoter contacts during open complex formationJ 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 ..
- Intermediates in the formation of the open complex by RNA polymerase holoenzyme containing the sigma factor sigma 32 at the groE promoterD 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...
- Identification of the gene coding for the largest subunit of RNA polymerase I (A) of Drosophila melanogasterS 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.
- DNA sequencing and analysis of 130 kb from yeast chromosome XVH 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)...
- The largest subunit of human RNA polymerase III is closely related to the largest subunit of yeast and trypanosome RNA polymerase IIIS Sepehri
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA
Genome Res 7:1006-19. 1997....
- Sequence divergence of the RNA polymerase shared subunit ABC14.5 (Rpb8) selectively affects RNA polymerase III assembly in Saccharomyces cerevisiaeA 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...
- Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genesK 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...
- Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2C 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 ..
- Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunitsPing 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...
- Ancient origin, functional conservation and fast evolution of DNA-dependent RNA polymerase IIIGalina 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-..
- Characterization of the RNA polymerase II and III complexes in Leishmania majorSantiago 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)...
- BRCA1 ubiquitinates RPB8 in response to DNA damageWenWen 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...
- 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 PolymeraseBarbara 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...
- RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediateAndrea 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...
- Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophyGenevieve 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)...
- Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathyHirotomo 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...
- Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophyMartine Tetreault
Neurogenetics of Motion Laboratory, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada
Am J Hum Genet 89:652-5. 2011Mutations 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...
- The human immunodeficiency virus tat protein increases the transcription of human Alu repeated sequences by increasing the activity of the cellular transcription factor TFIIICK 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...