title: Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
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.
authors.affiliation: Academic Unit of Medical Genetics, University of Manchester, Manchester, UK.
authors.forename: Gillian I
authors.initials: GI
authors.lastname: Rice
authors.forename: Jacquelyn
authors.initials: J
authors.lastname: Bond
authors.forename: Aruna
authors.initials: A
authors.lastname: Asipu
authors.forename: Rebecca L
authors.initials: RL
authors.lastname: Brunette
authors.forename: Iain W
authors.initials: IW
authors.lastname: Manfield
authors.forename: Ian M
authors.initials: IM
authors.lastname: Carr
authors.forename: Jonathan C
authors.initials: JC
authors.lastname: Fuller
authors.forename: Richard M
authors.initials: RM
authors.lastname: Jackson
authors.forename: Teresa
authors.initials: T
authors.lastname: Lamb
authors.forename: Tracy A
authors.initials: TA
authors.lastname: Briggs
authors.forename: Manir
authors.initials: M
authors.lastname: Ali
authors.forename: Hannah
authors.initials: H
authors.lastname: Gornall
authors.forename: Lydia R
authors.initials: LR
authors.lastname: Couthard
authors.forename: Alec
authors.initials: A
authors.lastname: Aeby
authors.forename: Simon P
authors.initials: SP
authors.lastname: Attard-Montalto
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Christine
authors.initials: C
authors.lastname: Bodemer
authors.forename: Knut
authors.initials: K
authors.lastname: Brockmann
authors.forename: Louise A
authors.initials: LA
authors.lastname: Brueton
authors.forename: Peter C
authors.initials: PC
authors.lastname: Corry
authors.forename: Isabelle
authors.initials: I
authors.lastname: Desguerre
authors.forename: Elisa
authors.initials: E
authors.lastname: Fazzi
authors.forename: Angels Garcia
authors.initials: AG
authors.lastname: Cazorla
authors.forename: Blanca
authors.initials: B
authors.lastname: Gener
authors.forename: Ben C J
authors.initials: BC
authors.lastname: Hamel
authors.forename: Arvid
authors.initials: A
authors.lastname: Heiberg
authors.forename: Matthew
authors.initials: M
authors.lastname: Hunter
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: Ram
authors.initials: R
authors.lastname: Kumar
authors.forename: Lieven
authors.initials: L
authors.lastname: Lagae
authors.forename: Pierre G
authors.initials: PG
authors.lastname: Landrieu
authors.forename: Charles M
authors.initials: CM
authors.lastname: Lourenco
authors.forename: Daphna
authors.initials: D
authors.lastname: Marom
authors.forename: Michael F
authors.initials: MF
authors.lastname: McDermott
authors.forename: William
authors.initials: W
authors.lastname: van der Merwe
authors.forename: Simona
authors.initials: S
authors.lastname: Orcesi
authors.forename: Julie S
authors.initials: JS
authors.lastname: Prendiville
authors.forename: Magnhild
authors.initials: M
authors.lastname: Rasmussen
authors.forename: Stavit A
authors.initials: SA
authors.lastname: Shalev
authors.forename: Doriette M
authors.initials: DM
authors.lastname: Soler
authors.forename: Marwan
authors.initials: M
authors.lastname: Shinawi
authors.forename: Ronen
authors.initials: R
authors.lastname: Spiegel
authors.forename: Tiong Y
authors.initials: TY
authors.lastname: Tan
authors.forename: Adeline
authors.initials: A
authors.lastname: Vanderver
authors.forename: Emma L
authors.initials: EL
authors.lastname: Wakeling
authors.forename: Evangeline
authors.initials: E
authors.lastname: Wassmer
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Whittaker
authors.forename: Pierre
authors.initials: P
authors.lastname: Lebon
authors.forename: Daniel B
authors.initials: DB
authors.lastname: Stetson
authors.forename: David T
authors.initials: DT
authors.lastname: Bonthron
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
mesh_terms: D019943:Amino Acid Substitution; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007113:Immunity, Innate; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics* / Q000276:immunology; D000076106:SAM Domain and HD Domain-Containing Protein 1
chemical_list: D000076106:SAM Domain and HD Domain-Containing Protein 1; C484280:SAMHD1 protein, human; D020559:Monomeric GTP-Binding Proteins