Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick Crow, Yanick J. Crow, Andrea Leitch, Bruce E. Hayward, Anna Garner, Rekha Parmar, Elen Griffith, Manir Ali, Colin Semple, Jean Aicardi, Riyana Babul-Hirji, Clarisse Baumann, Peter Baxter, Enrico Bertini, Kate E. Chandler, David Chitayat, Daniel Cau, Catherine Déry, Elisa Fazzi, Cyril GoizetMary D. King, Joerg Klepper, Didier Lacombe, Giovanni Lanzi, Hermione Lyall, María Luisa Martínez-Frías, Michèle Mathieu, Carole McKeown, Anne Monier, Yvette Oade, Oliver W. Quarrell, Christopher D. Rittey, R. Curtis Rogers, Amparo Sanchis, John B P Stephenson, Uta Tacke, Marianne Till, John L. Tolmie, Pam Tomlin, Thomas Voit, Bernhard Weschke, C. Geoffrey Woods, Pierre Lebon, David T. Bonthron, Chris P. Ponting, Andrew P. Jackson

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding any one of its three subunits. 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. © 2006 Nature Publishing Group.
    Original languageEnglish
    Pages (from-to)910-916
    Number of pages6
    JournalNature Genetics
    Volume38
    Issue number8
    DOIs
    Publication statusPublished - Aug 2006

    Keywords

    • Amino Acid Sequence
    • Base Sequence
    • genetics: DNA
    • congenital: Encephalitis, Viral
    • Female
    • enzymology: Heredodegenerative Disorders, Nervous System
    • Humans
    • Male
    • Models, Molecular
    • Molecular Sequence Data
    • Mutation
    • Protein Structure, Quaternary
    • Protein Subunits
    • chemistry: Ribonuclease H
    • Syndrome

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