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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
- Source :
- Nature genetics, 41(7), 829-U89. Nature Publishing Group, Nature Genetics, 41(7), 829-U89. Nature Publishing Group, Rice, G I, Bond, J, Asipu, A, Brunette, R L, Manfield, I W, Carr, I M, Fuller, J H, Jackson, R B, Lamb, T, Briggs, T A, Ali, M, Gornall, H, Couthard, L R, Aeby, A, Attard-Montalto, S P, Bertini, E, Bodemer, C, Brockmann, K, Brueton, L A, Corry, P C, Desguerre, I, Fazzi, E, Cazorla, A G, Gener, B, Hamel, B C, Heiberg, A, Hunter, M, van der Knaap, M S, Kumar, R, Lagae, L, Landrieu, P G, Lourenco, C M, Marom, D, McDermott, M F, van der Merwe, W, Orcesi, S, Prendiville, J S, Rasmussen, M, Shalev, S A, Soler, D M, Shinawi, M, Spiegel, R, Tan, T Y, Vanderver, A, Wakeling, E L, Wassmer, E, Whittaker, E, Lebon, P, Stetson, D B, Bonthron, D T & Crow, Y J 2009, ' Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response ', Nature Genetics, vol. 41, no. 7, pp. 829-832 . https://doi.org/10.1038/ng.373, Nature Genetics, 41(7), 829-832. Nature Publishing Group
- Publication Year :
- 2009
-
Abstract
- Aicardi-Goutieres 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.
- Subjects :
- INTERFERON
GENES
AUTOIMMUNITY
Ribonucleotide excision repair
Regulator
VIRUS-INFECTION
Biology
medicine.disease_cause
Article
Aicardi syndrome
Autoimmunity
SAM Domain and HD Domain-Containing Protein 1
03 medical and health sciences
0302 clinical medicine
Immune system
DOMAIN
GAMMA-INDUCED PROTEIN
EXONUCLEASE TREX1
Genetics
medicine
Humans
CONGENITAL INFECTION
SYSTEMIC-LUPUS-ERYTHEMATOSUS
Gene
030304 developmental biology
Monomeric GTP-Binding Proteins
0303 health sciences
Innate immune system
Brain Diseases, Metabolic, Inborn
medicine.disease
Immunity, Innate
3. Good health
Amino Acid Substitution
Immunology
Aicardi–Goutières syndrome
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 10614036
- Database :
- OpenAIRE
- Journal :
- Nature genetics, 41(7), 829-U89. Nature Publishing Group, Nature Genetics, 41(7), 829-U89. Nature Publishing Group, Rice, G I, Bond, J, Asipu, A, Brunette, R L, Manfield, I W, Carr, I M, Fuller, J H, Jackson, R B, Lamb, T, Briggs, T A, Ali, M, Gornall, H, Couthard, L R, Aeby, A, Attard-Montalto, S P, Bertini, E, Bodemer, C, Brockmann, K, Brueton, L A, Corry, P C, Desguerre, I, Fazzi, E, Cazorla, A G, Gener, B, Hamel, B C, Heiberg, A, Hunter, M, van der Knaap, M S, Kumar, R, Lagae, L, Landrieu, P G, Lourenco, C M, Marom, D, McDermott, M F, van der Merwe, W, Orcesi, S, Prendiville, J S, Rasmussen, M, Shalev, S A, Soler, D M, Shinawi, M, Spiegel, R, Tan, T Y, Vanderver, A, Wakeling, E L, Wassmer, E, Whittaker, E, Lebon, P, Stetson, D B, Bonthron, D T & Crow, Y J 2009, ' Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response ', Nature Genetics, vol. 41, no. 7, pp. 829-832 . https://doi.org/10.1038/ng.373, Nature Genetics, 41(7), 829-832. Nature Publishing Group
- Accession number :
- edsair.doi.dedup.....8db24c35a7c491dce4a9b117a4c3c4f1
- Full Text :
- https://doi.org/10.1038/ng.373