title: Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
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.
authors.affiliation: Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Leeds, LS9 7TF, UK. yanickcrow@mac.com
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
authors.forename: Andrea
authors.initials: A
authors.lastname: Leitch
authors.forename: Bruce E
authors.initials: BE
authors.lastname: Hayward
authors.forename: Anna
authors.initials: A
authors.lastname: Garner
authors.forename: Rekha
authors.initials: R
authors.lastname: Parmar
authors.forename: Elen
authors.initials: E
authors.lastname: Griffith
authors.forename: Manir
authors.initials: M
authors.lastname: Ali
authors.forename: Colin
authors.initials: C
authors.lastname: Semple
authors.forename: Jean
authors.initials: J
authors.lastname: Aicardi
authors.forename: Riyana
authors.initials: R
authors.lastname: Babul-Hirji
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Peter
authors.initials: P
authors.lastname: Baxter
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Kate E
authors.initials: KE
authors.lastname: Chandler
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Daniel
authors.initials: D
authors.lastname: Cau
authors.forename: Catherine
authors.initials: C
authors.lastname: Déry
authors.forename: Elisa
authors.initials: E
authors.lastname: Fazzi
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
authors.forename: Mary D
authors.initials: MD
authors.lastname: King
authors.forename: Joerg
authors.initials: J
authors.lastname: Klepper
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Giovanni
authors.initials: G
authors.lastname: Lanzi
authors.forename: Hermione
authors.initials: H
authors.lastname: Lyall
authors.forename: María Luisa
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: Michèle
authors.initials: M
authors.lastname: Mathieu
authors.forename: Carole
authors.initials: C
authors.lastname: McKeown
authors.forename: Anne
authors.initials: A
authors.lastname: Monier
authors.forename: Yvette
authors.initials: Y
authors.lastname: Oade
authors.forename: Oliver W
authors.initials: OW
authors.lastname: Quarrell
authors.forename: Christopher D
authors.initials: CD
authors.lastname: Rittey
authors.forename: R Curtis
authors.initials: RC
authors.lastname: Rogers
authors.forename: Amparo
authors.initials: A
authors.lastname: Sanchis
authors.forename: John B P
authors.initials: JB
authors.lastname: Stephenson
authors.forename: Uta
authors.initials: U
authors.lastname: Tacke
authors.forename: Marianne
authors.initials: M
authors.lastname: Till
authors.forename: John L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: Pam
authors.initials: P
authors.lastname: Tomlin
authors.forename: Thomas
authors.initials: T
authors.lastname: Voit
authors.forename: Bernhard
authors.initials: B
authors.lastname: Weschke
authors.forename: C Geoffrey
authors.initials: CG
authors.lastname: Woods
authors.forename: Pierre
authors.initials: P
authors.lastname: Lebon
authors.forename: David T
authors.initials: DT
authors.lastname: Bonthron
authors.forename: Chris P
authors.initials: CP
authors.lastname: Ponting
authors.forename: Andrew P
authors.initials: AP
authors.lastname: Jackson
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D018792:Encephalitis, Viral / Q000151:congenital; D005260:Female; D020271:Heredodegenerative Disorders, Nervous System / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D020836:Protein Structure, Quaternary; D021122:Protein Subunits; D016914:Ribonuclease H / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D013577:Syndrome
chemical_list: D021122:Protein Subunits; D004247:DNA; C091139:ribonuclease HII; D016914:Ribonuclease H