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- DOI: 10.1038/ng1842
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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Crow, YJ, Leitch, A, Hayward, B, Garner, A, Parmar, R, Griffith, E, Ali, M, Semple, C, Aicardi, J, Babul-Hirji, R, Baumann, C, Baxter, P, Bertini, E, Chandler, K, Chitayat, D, Cau, D, Déry, C, Fazzi, E, Goizet, C, King, M, Klepper, J, Lacombe, D, Lanzi, G, Lyall, H, MartÃnez-FrÃas, M, Mathieu, M, McKeown, C, Monier, A, Oade, Y, Quarrell, O, Rittey, C, Rogers, R, Sanchis, A, Stephenson, J, Tacke, U, Till, M, Tolmie, J, Tomlin, P, Voit, T, Weschke, B, Woods, C, Lebon, P, Bonthron, D, Ponting, C, Jackson, A
Nat Genet. 2006;38( 8):910-6.
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Full-text held externally
- DOI: 10.1038/ng1842
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.
Keyword(s)
Amino Acid Sequence; Base Sequence; Female; Humans; Male; Models, Molecular; Molecular Sequence Data; Mutation; Protein Structure, Quaternary; Protein Subunits; Syndrome; chemistry: Ribonuclease H; congenital: Encephalitis, Viral; enzymology: Heredodegenerative Disorders, Nervous System; genetics: DNA