Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian I Rice, Paul R. Kasher, Gabriella M. A. Forte, Niamh M. Mannion, Sam M. Greenwood, Marcin Szynkiewicz, Jonathan E Dickerson, Sanjeev S Bhaskar, Massimiliano Zampini, Tracy A Briggs, Emma M Jenkinson, Carlos A Bacino, Roberta Battini, Enrico Bertini, Paul A Brogan, Louise A Brueton, Marialuisa Carpanelli, Corinne De Laet, Pascale de Lonlay, Mireia del ToroIsabelle Desguerre, Elisa Fazzi, Angels Garcia-Cazorla, Arvid Heiberg, Masakazu Kawaguchi, Ram Kumar, Jean-Pierre S-M Lin, Charles M Lourenco, Alison M Male, Wilson Marques, Cyril Mignot, Ivana Olivieri, Simona Orcesi, Prab Prabhakar, Magnhild Rasmussen, Robert A Robinson, Flore Rozenberg, Johanna L Schmidt, Katharina Steindl, Tiong Y Tan, William G van der Merwe, Adeline Vanderver, Grace Vassallo, Emma L Wakeling, Evangeline Wassmer, Elizabeth Whittaker, John H Livingston, Pierre Lebon, Tamio Suzuki, Paul J McLaughlin, Liam P Keegan, Mary A O'Connell, Simon C Lovell, Yanick J Crow

Allbwn ymchwil: Cyfraniad at gyfnodolynErthygladolygiad gan gymheiriaid

673 Dyfyniadau (Scopus)

Crynodeb

Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the information content and structure of cellular RNAs. Notably, although the overwhelming majority of such editing events occur in transcripts derived from Alu repeat elements, the biological function of non-coding RNA editing remains uncertain. Here, we show that mutations in ADAR1 (also known as ADAR) cause the autoimmune disorder Aicardi-Goutières syndrome (AGS). As in Adar1-null mice, the human disease state is associated with upregulation of interferon-stimulated genes, indicating a possible role for ADAR1 as a suppressor of type I interferon signaling. Considering recent insights derived from the study of other AGS-related proteins, we speculate that ADAR1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.
Iaith wreiddiolSaesneg
Tudalennau (o-i)1243–1248
Nifer y tudalennau6
CyfnodolynNature Genetics
Cyfrol44
Rhif cyhoeddi11
Dyddiad ar-lein cynnar23 Medi 2012
Dynodwyr Gwrthrych Digidol (DOIs)
StatwsCyhoeddwyd - Tach 2012

Ôl bys

Gweld gwybodaeth am bynciau ymchwil 'Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature'. Gyda’i gilydd, maen nhw’n ffurfio ôl bys unigryw.

Dyfynnu hyn