Title |
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
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Published in |
Nature Genetics, June 2009
|
DOI | 10.1038/ng.373 |
Pubmed ID | |
Authors |
Gillian I Rice, Jacquelyn Bond, Aruna Asipu, Rebecca L Brunette, Iain W Manfield, Ian M Carr, Jonathan C Fuller, Richard M Jackson, Teresa Lamb, Tracy A Briggs, Manir Ali, Hannah Gornall, Lydia R Couthard, Alec Aeby, Simon P Attard-Montalto, Enrico Bertini, Christine Bodemer, Knut Brockmann, Louise A Brueton, Peter C Corry, Isabelle Desguerre, Elisa Fazzi, Angels Garcia Cazorla, Blanca Gener, Ben C J Hamel, Arvid Heiberg, Matthew Hunter, Marjo S van der Knaap, Ram Kumar, Lieven Lagae, Pierre G Landrieu, Charles M Lourenco, Daphna Marom, Michael F McDermott, William van der Merwe, Simona Orcesi, Julie S Prendiville, Magnhild Rasmussen, Stavit A Shalev, Doriette M Soler, Marwan Shinawi, Ronen Spiegel, Tiong Y Tan, Adeline Vanderver, Emma L Wakeling, Evangeline Wassmer, Elizabeth Whittaker, Pierre Lebon, Daniel B Stetson, David T Bonthron, Yanick J Crow |
Abstract |
Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in TREX1 and genes encoding the RNASEH2 complex and studies of the function of TREX1 in DNA metabolism have defined a previously unknown mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid. Here we describe mutations in SAMHD1 as the cause of AGS at the AGS5 locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response. |
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Geographical breakdown
Country | Count | As % |
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United States | 4 | 1% |
United Kingdom | 2 | <1% |
Germany | 1 | <1% |
France | 1 | <1% |
Singapore | 1 | <1% |
Canada | 1 | <1% |
Unknown | 325 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 77 | 23% |
Researcher | 69 | 21% |
Student > Bachelor | 33 | 10% |
Student > Master | 25 | 7% |
Professor > Associate Professor | 22 | 7% |
Other | 59 | 18% |
Unknown | 50 | 15% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 102 | 30% |
Biochemistry, Genetics and Molecular Biology | 74 | 22% |
Medicine and Dentistry | 52 | 16% |
Immunology and Microbiology | 23 | 7% |
Neuroscience | 7 | 2% |
Other | 17 | 5% |
Unknown | 60 | 18% |