Genomes and Genes
Gene Symbol: RNASEH2B
Description: ribonuclease H2 subunit B
Alias: AGS2, DLEU8, ribonuclease H2 subunit B, Aicardi-Goutieres syndrome 2 protein, RNase H2 subunit B, deleted in lymphocytic leukemia 8, ribonuclease HI subunit B
- Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow
Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
Nat Genet 38:910-6. 2006..Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation...
- Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complexHyongi Chon
Program in Genomics of Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda MD 20892, USA
Nucleic Acids Res 37:96-110. 2009..In contrast, the RNASEH2B and RNASEH2C subunits from human and Saccharomyces cerevisiae share very little homology, although they both form ..
- A 660-Kb deletion with antagonistic effects on fertility and milk production segregates at high frequency in Nordic Red cattle: additional evidence for the common occurrence of balancing selection in livestockNaveen Kumar Kadri
Center for Quantitative Genetics and Genomics, Department of Molecular Biology and Genetics, Aarhus University, Tjele, Denmark
PLoS Genet 10:e1004049. 2014..We show that the deletion is a recessive embryonically lethal mutation. This probably results from the loss of RNASEH2B, which is known to cause embryonic death in mice...
- [Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases]Saturnino Ortiz-Madinaveitia
Hospital Santa Barbara, Soria, Espana
Rev Neurol 62:165-9. 2016..Two cases are described in detail below caused by RNASEH2B gene mutation, one of which displays a mutation no described to date.
- Is the role of human RNase H2 restricted to its enzyme activity?Shaolong Feng
The School of Public Health, University of South China, Hengyang 421001, China Electronic address
Prog Biophys Mol Biol 121:66-73. 2016..Thirdly, the subunit proteins RNASEH2A and RNASEH2B respectively, not related to the RNase H2 enzymatic activities, have been shown to play a certain role in the ..
- Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegiaYanick J Crow
INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France
Neuropediatrics 45:386-93. 2014..Hereditary spastic paraplegia is a neurodegenerative phenotype characterized by a progressive loss of corticospinal motor tract function. In a majority of affected individuals the pathogenesis remains undetermined...
- Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and BeyondJohn H Livingston
Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Leeds, United Kingdom
Neuropediatrics 47:355-360. 2016..following seven genes may result in the classical AGS phenotype: TREX1 (AGS1), RNASEH2A (AGS2), RNASEH2B (AGS3), RNASEH2C (AGS4), SAMHD1 (AGS5), ADAR1 (AGS6), and IFIH1 (AGS7)...
- A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptidesL Bossini-Castillo
Instituto de Parasitologia y Biomedicina Lopez Neyra, Consejo Superior de Investigaciones Científicas IPBLN CSIC, Granada, Spain
Ann Rheum Dis 74:e15. 2015..To date, the majority of genetic studies have focused on the ACPA-positive group. Therefore, our goal was to analyse the genetic risk factors that contribute to ACPA-negative RA...
- Identification of novel genes involved in gastric carcinogenesis by suppression subtractive hybridizationN Mottaghi-Dastjerdi
Department of Pharmaceutical Biotechnology and Pharmaceutical Biotechnology Research Center, School of Pharmacy, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran Pharmaceutical Sciences Research Center, Sari School of Pharmacy, Mazandaran University of Medical Sciences, Sari, Islamic Republic of Iran
Hum Exp Toxicol 34:3-11. 2015..The genes were ribosomal protein L18A, RNase H2 subunit B, SEC13, eukaryotic translation initiation factor 4A1, tetraspanin 8, cytochrome c oxidase subunit 2, NADH ..
- Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndromeBarbara Kind
Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus and
Hum Mol Genet 23:5950-60. 2014..We found that AGS-associated mutations alter complex formation, recruitment efficiency and exchange kinetics at sites of DNA replication and repair suggesting that impaired ribonucleotide removal contributes to AGS pathogenesis. ..
- Robustness against serum neutralization of a poliovirus type 1 from a lethal epidemic of poliomyelitis in the Republic of Congo in 2010Jan Felix Drexler
Institute of Virology, University of Bonn Medical Centre, 53127 Bonn, Germany
Proc Natl Acad Sci U S A 111:12889-94. 2014..termed PV1-RC2010) showed a previously unknown combination of amino acid exchanges in critical antigenic site 2 (AgS2, VP1 capsid protein positions 221SAAL → 221PADL)...
- The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defectsMałgorzata Figiel
Laboratory of Protein Structure, International Institute of Molecular and Cell Biology, Warsaw 02 109, Poland
J Biol Chem 286:10540-50. 2011..Our model indicates that the difference in substrate preference stems from the different position of the crucial tyrosine residue involved in substrate binding and recognition...
- Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow
INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes Sorbonne Paris Cité University, Institut Imagine, Hopital Necker, Paris, France Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK
Am J Med Genet A 167:296-312. 2015Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes...
- Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine releaseEloy Cuadrado
Department of Astrocyte Biology and Neurodegeneration, Netherlands Institute for Neuroscience, Institute of the Royal Netherlands Academy of Arts and Sciences, 1105 BA Amsterdam, the Netherlands Department of Experimental Immunology, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
J Immunol 194:3623-33. 2015..syndrome (AGS) is a monogenic inflammatory encephalopathy caused by mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or MDA5...
- Exposure-dependent Ag+ release from silver nanoparticles and its complexation in AgS2 sites in primary murine macrophagesG Veronesi
BioMet Team, Laboratoire de Chimie et Biologie des Métaux LCBM, UMR 5249 CEA CNRS Université Grenoble Alpes CEA Grenoble, 17 rue des Martyrs, 38054 Grenoble, France
Nanoscale 7:7323-30. 2015..41 ± 0.03 Å and 2.38 ± 0.01 Å in acute and chronic exposure respectively, compatible with digonal AgS2 coordination. Glutathione is identified as the most likely putative ligand for Ag(+)...
- Genetics and molecular biology of brain calcificationHao Deng
Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, China Center for Experimental Medicine, Third Xiangya Hospital, Central South University, Changsha, China Electronic address
Ageing Res Rev 22:20-38. 2015..The aim of the review is to highlight clinical disorders associated with brain calcification and provide summary of current knowledge of diagnosis, genetics, and pathogenesis of brain calcification. ..
- Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndromeYoong Wearn Lim
Department of Molecular and Cellular Biology, University of California, Davis, Davis, United States
elife 4:. 2015..endogenous nucleic acid species owing to mutations in nucleic acid-degrading enzymes TREX1 (AGS1), RNase H2 (AGS2, 3 and 4), and SAMHD1 (AGS5)...
- Cannabinoid receptor 2 expression modulates Gβ(1)γ(2) protein interaction with the activator of G protein signalling 2/dynein light chain protein Tctex-1Marina Nagler
Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg ZMNH, University Medical Center Hamburg Eppendorf UKE, 20246 Hamburg, Germany Institute of Pharmacology and Toxicology, Ulm University, 89081 Ulm, Germany
Biochem Pharmacol 99:60-72. 2016The activator of G protein signalling AGS2 (Tctex-1) forms protein complexes with Gβγ, and controls cell proliferation by regulating cell cycle progression...
- XAS Investigation of Silver(I) Coordination in Copper(I) Biological Binding SitesGiulia Veronesi
CNRS, UMR 5249, CNRS CEA UJF CEA and University Grenoble Alpes, Laboratoire de Chimie et Biologie des Métaux LCBM, F 38054 Grenoble, France
Inorg Chem 54:11688-96. 2015..40 and 2.49 Å in AgS2 and AgS3 sites, respectively, comparable to the values reported for crystalline Ag(I)-thiolate compounds...
- RNase H2 catalytic core Aicardi-Goutières syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in miceVladislav Pokatayev
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390 Department of Microbiology, University of Texas Southwestern Medical Center, Dallas, TX 75390
J Exp Med 213:329-36. 2016..G37S homozygotes are perinatal lethal, in contrast to the early embryonic lethality previously reported for Rnaseh2b- or Rnaseh2c-null mice...
- Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2CJulie Vogt
Centre for Rare Diseases and Personalised Medicine, Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
Am J Med Genet A 161:338-42. 2013..development, morbidity and mortality has been particularly observed in association with mutations in SAMHD1 and RNASEH2B. In contrast, the recurrent c.205C > T (p...
- Deletion of the α-(1,3)-glucan synthase genes induces a restructuring of the conidial cell wall responsible for the avirulence of Aspergillus fumigatusAnne Beauvais
Unite des Aspergillus, Institut Pasteur, Paris, France
PLoS Pathog 9:e1003716. 2013..There are three genes (AGS1, AGS2 and AGS3) controlling the biosynthesis of α-(1,3)-glucan in this fungal species...
- Silver(I) complex formation with cysteine, penicillamine, and glutathioneBonnie O Leung
Department of Chemistry, University of Calgary, Calgary, Alberta T2N 1N4, Canada
Inorg Chem 52:4593-602. 2013..0) the mean Ag-S bond distance of 2.40 ± 0.02 Å and δ((109)Ag) 922 ppm indicate that mononuclear AgS2 coordinated complexes dominate. For Ag(I)-glutathione solutions (C(Ag(I)) = 0...
- Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control studyGillian I Rice
Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre MAHSC, Manchester, UK
Lancet Neurol 12:1159-69. 2013..syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed...
- A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe IslandsElsebet Ostergaard
Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Denmark
Acta Paediatr 101:e509-13. 2012..The aim of the study was to identify the genetic background for Aicardi-Goutieres syndrome (AGS) in the Faroe Islands...
- Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndromeAlberto Izzotti
Department of Health Sciences, University of Genoa, Genoa, 16132, Italy
J Child Neurol 27:51-60. 2012....
- A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14C A Hodgkinson
Genetics Department, King Faisal Specialist Hospital and Research Centre Riyadh, Kingdom of Saudi Arabia
Neurology 59:1905-9. 2002..HSP is classified according to the presence or absence of accompanying neurologic problems and by the mode of inheritance. Currently, 17 loci have been linked to the various forms of HSP...
- AGS proteins, GPR motifs and the signals processed by heterotrimeric G proteinsStephen M Lanier
Department of Pharmacology and Experimental Therapeutics, Louisiana State University Health Sciences Center, 1901 Perdido St New Orleans, LA 70112, USA
Biol Cell 96:369-72. 2004..We identified three proteins, AGS1, AGS2 and AGS3 (for Activators of G-protein Signaling), that activated heterotrimeric G-protein signalling pathways in ..
- Two alpha(1-3) glucan synthases with different functions in Aspergillus fumigatusA Beauvais
Aspergillus Unit, Institut Pasteur, Paris, France
Appl Environ Microbiol 71:1531-8. 2005..Two genes in A. fumigatus, AGS1 and AGS2, are highly homologous to the AGS genes of Schizosaccharomyces pombe, which encode putative alpha(1-3) glucan ..
- A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali
Molecular Medicine Unit, University of Leeds, St James s University Hospital, Leeds, UK
J Med Genet 43:444-50. 2006..AGS may result from a perturbation of interferon alpha metabolism. The disorder is genetically heterogeneous with approximately 50% of families mapping to the first known locus at 3p21 (AGS1)...
- AGS3, an alpha(1-3)glucan synthase gene family member of Aspergillus fumigatus, modulates mycelium growth in the lung of experimentally infected miceD Maubon
Aspergillus Unit, Institut Pasteur, Paris, France
Fungal Genet Biol 43:366-75. 2006..In A. fumigatus, three putative alpha(1-3)glucan synthase genes AGS1, AGS2 and AGS3 have been identified...
- G protein beta gamma subunit interaction with the dynein light-chain component Tctex-1 regulates neurite outgrowthPallavi Sachdev
Laboratory of Molecular Biology and Biochemistry, The Rockefeller University, New York, NY 10021, USA
EMBO J 26:2621-32. 2007..a Gbetagamma-binding protein and shown to be identical to the receptor-independent activator of G protein signaling AGS2. We propose a novel role for the interaction of Gbetagamma with Tctex-1 in neurite outgrowth...
- Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice
Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
Am J Hum Genet 81:713-25. 2007..Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively...
- Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infectionYanick J Crow
Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, West Yorkshire, UK
Dev Med Child Neurol 50:410-6. 2008..development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations...
- Aicardi-Goutières syndrome: description of a late onset caseStefano D'Arrigo
Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico C Besta, Milan, Italy
Dev Med Child Neurol 50:631-4. 2008..The syndrome can be caused by mutations in the AGS1 gene encoding the exonuclease TREX1, or in any of the AGS2, AGS3, or AGS4 genes that encode the three subunits of the human ribonuclease H2 (RNaseH2) complex...
- Crosstalk between components of the innate immune system: promoting anti-microbial defenses and avoiding immunopathologiesKarine Crozat
Centre d immunologie de Marseille Luminy, Universite de la Mediterranee, Marseille, France
Immunol Rev 227:129-49. 2009....
- PCNA directs type 2 RNase H activity on DNA replication and repair substratesDoryen Bubeck
Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
Nucleic Acids Res 39:3652-66. 2011..of Archaeoglobus fulgidus RNase HII in complex with PCNA, and human PCNA bound to a C-terminal peptide of RNASEH2B. In the archaeal structure, three binding modes are observed as the enzyme rotates about a flexible hinge while ..
- α1,3 glucans are dispensable in Aspergillus fumigatusChristine Henry
Unite des Aspergillus, Institut Pasteur, Paris, France
Eukaryot Cell 11:26-9. 2012..mutant of Aspergillus fumigatus obtained by successive deletions of the three α1,3 glucan synthase genes (AGS1, AGS2, and AGS3) has a cell wall devoid of α1,3 glucans...
- Receptor-independent activators of heterotrimeric G-protein signaling pathwaysA Takesono
Department of Pharmacology, Medical University of South Carolina, Charleston, South Carolina 29425, USA
J Biol Chem 274:33202-5. 1999..We identified two mammalian proteins, AGS2 and AGS3 (activators of G-protein signaling), that activated the pheromone response pathway at the level of ..
- Identification of genes related to Parkinson's disease using expressed sequence tagsJeong Min Kim
Laboratory of Human Genomics, Genome Research Center, Korea Research Institute of Bioscience and Biotechnology KRIBB Daejeon, Korea
DNA Res 13:275-86. 2006..These new genes, MBP, PBP, GNAS, SPP1 and TUBA3 in particular, represent potential biomarkers for PD and could serve as useful targets for elucidating the molecular mechanisms associated with PD...