RNASEH2B

Summary

Gene Symbol: RNASEH2B
Description: ribonuclease H2, subunit B
Alias: AGS2, DLEU8, Aicardi-Goutieres syndrome 2 protein, RNase H2 subunit B, deleted in lymphocytic leukemia 8, ribonuclease H2 subunit B, ribonuclease HI subunit B
Species: human

Top Publications

  1. pmc Deletion of the α-(1,3)-glucan synthase genes induces a restructuring of the conidial cell wall responsible for the avirulence of Aspergillus fumigatus
    Anne Beauvais
    Unite des Aspergillus, Institut Pasteur, Paris, France
    PLoS Pathog 9:e1003716. 2013
  2. doi Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome
    Alberto Izzotti
    Department of Health Sciences, University of Genoa, Genoa, 16132, Italy
    J Child Neurol 27:51-60. 2012
  3. ncbi Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    Yanick 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
  4. doi A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Denmark
    Acta Paediatr 101:e509-13. 2012
  5. doi Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C
    Julie 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
  6. pmc Silver(I) complex formation with cysteine, penicillamine, and glutathione
    Bonnie O Leung
    Department of Chemistry, University of Calgary, Calgary, Alberta T2N 1N4, Canada
    Inorg Chem 52:4593-602. 2013
  7. doi Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
    Gillian 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
  8. pmc α1,3 glucans are dispensable in Aspergillus fumigatus
    Christine Henry
    Unite des Aspergillus, Institut Pasteur, Paris, France
    Eukaryot Cell 11:26-9. 2012
  9. pmc PCNA directs type 2 RNase H activity on DNA replication and repair substrates
    Doryen 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
  10. doi Crosstalk between components of the innate immune system: promoting anti-microbial defenses and avoiding immunopathologies
    Karine Crozat
    Centre d immunologie de Marseille Luminy, Universite de la Mediterranee, Marseille, France
    Immunol Rev 227:129-49. 2009

Scientific Experts

  • Yanick J Crow
  • A Izzotti
  • Julie Vogt
  • E Ostergaard
  • Anne Beauvais
  • Stephen M Lanier
  • C A Hodgkinson
  • Stefano D'Arrigo
  • Bonnie O Leung
  • Gillian I Rice
  • Christine Henry
  • Doryen Bubeck
  • Simona Orcesi
  • Ronen Spiegel
  • Blanca Gener
  • John H Livingston
  • Agathe Roubertie
  • Kate E Chandler
  • Alec Aeby
  • Corinne De Laet
  • Doriette Soler
  • Pierre Lebon
  • Elisa Fazzi
  • Stavit A Shalev
  • Magnhild Rasmussen
  • Adeline Vanderver
  • Andrew P Jackson
  • Hyongi Chon
  • Karine Crozat
  • Gillian Rice
  • Pallavi Sachdev
  • Jeong Min Kim
  • D Maubon
  • M Ali
  • Ghada M H Abdel-Salam
  • Kai Kisand
  • Russell C Dale
  • Rebecca Allcock
  • Mona S Aglan
  • Masood Parvez
  • Flore Rozenberg
  • Samia A Temtamy
  • Christine Bodemer
  • Marcin Szynkiewicz
  • Vicky Mah
  • William P Whitehouse
  • Rogelio Simón
  • Qiao Wu
  • Diana S Chase
  • Mohamed S Abdel-Hamid
  • Mireia Del Toro
  • Ivana Olivieri
  • Patrick Oades
  • Charles Marques Lourenço
  • Christine Barnerias
  • Maria P Botella
  • Wilson Marques
  • Catheline N Vilain
  • Gabriella M A Forte
  • Farideh Jalilehvand
  • Laila Effat
  • Cristina Cereda
  • Kathryn M Bailey
  • Christian G E L de Goede
  • Noemi Nunez Enamorado
  • Genevieve Bernard
  • Umberto Balottin
  • Grace Vassallo
  • Vanessa Wermenbol
  • Maha S Zaki
  • Lyvia Dabydeen
  • Kathryn J Swoboda
  • Madli Haldre
  • Part Peterson
  • Jean Pierre S M Lin
  • Sam Ackroyd
  • Johanna Loewenstein Schmidt
  • Jean Paul Latge
  • Stephen C Graham
  • E Yvonne Jones
  • Martin A M Reijns
  • Katy R Astell
  • Susana M Cerritelli
  • Marc Dalod
  • Melvin L DePamphilis
  • Robert J Crouch
  • Peter M Burgers
  • Eric Vivier
  • Alex Vassilev
  • Yingming Zhao

Detail Information

Publications23

  1. pmc Deletion of the α-(1,3)-glucan synthase genes induces a restructuring of the conidial cell wall responsible for the avirulence of Aspergillus fumigatus
    Anne 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...
  2. doi Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome
    Alberto Izzotti
    Department of Health Sciences, University of Genoa, Genoa, 16132, Italy
    J Child Neurol 27:51-60. 2012
    ....
  3. ncbi Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    Yanick 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...
  4. doi A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands
    Elsebet 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...
  5. doi Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C
    Julie 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...
  6. pmc Silver(I) complex formation with cysteine, penicillamine, and glutathione
    Bonnie 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...
  7. doi Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
    Gillian 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...
  8. pmc α1,3 glucans are dispensable in Aspergillus fumigatus
    Christine 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...
  9. pmc PCNA directs type 2 RNase H activity on DNA replication and repair substrates
    Doryen 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 ..
  10. doi Crosstalk between components of the innate immune system: promoting anti-microbial defenses and avoiding immunopathologies
    Karine Crozat
    Centre d immunologie de Marseille Luminy, Universite de la Mediterranee, Marseille, France
    Immunol Rev 227:129-49. 2009
    ....
  11. pmc Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex
    Hyongi 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 ..
  12. doi Aicardi-Goutières syndrome: description of a late onset case
    Stefano 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...
  13. ncbi A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14
    C 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...
  14. ncbi AGS proteins, GPR motifs and the signals processed by heterotrimeric G proteins
    Stephen 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 ..
  15. pmc Two alpha(1-3) glucan synthases with different functions in Aspergillus fumigatus
    A 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 ..
  16. pmc A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
    M 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)...
  17. ncbi AGS3, an alpha(1-3)glucan synthase gene family member of Aspergillus fumigatus, modulates mycelium growth in the lung of experimentally infected mice
    D 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...
  18. pmc G protein beta gamma subunit interaction with the dynein light-chain component Tctex-1 regulates neurite outgrowth
    Pallavi 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...
  19. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian 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...
  20. doi Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection
    Yanick 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...
  21. ncbi Receptor-independent activators of heterotrimeric G-protein signaling pathways
    A 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 ..
  22. ncbi Identification of genes related to Parkinson's disease using expressed sequence tags
    Jeong 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...