Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signatureCitation formats

  • External authors:
  • Gabriella M A Forte
  • Niamh M. Mannion
  • Sam M. Greenwood
  • Marcin Szynkiewicz
  • Jonathan E. Dickerson
  • Sanjeev S. Bhaskar
  • Massimiliano Zampini
  • Carlos A. Bacino
  • Roberta Battini
  • Enrico Bertini
  • Paul A. Brogan
  • Louise A. Brueton
  • Marialuisa Carpanelli
  • Corinne De Laet
  • Pascale De Lonlay
  • Mireia Del Toro
  • Isabelle Desguerre
  • Elisa Fazzi
  • Àngels 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
  • Yanick J. Crow

Standard

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signature. / Rice, Gillian I.; Kasher, Paul R.; Forte, Gabriella M A; Mannion, Niamh M.; Greenwood, Sam M.; Szynkiewicz, Marcin; Dickerson, Jonathan E.; Bhaskar, Sanjeev S.; Zampini, Massimiliano; Briggs, Tracy A.; Jenkinson, Emma M.; Bacino, Carlos A.; Battini, Roberta; Bertini, Enrico; Brogan, Paul A.; Brueton, Louise A.; Carpanelli, Marialuisa; De Laet, Corinne; De Lonlay, Pascale; Del Toro, Mireia; Desguerre, Isabelle; Fazzi, Elisa; Garcia-Cazorla, Àngels; Heiberg, Arvid; Kawaguchi, Masakazu; Kumar, Ram; Lin, Jean Pierre S M; Lourenco, Charles M.; Male, Alison M.; Marques, Wilson; Mignot, Cyril; Olivieri, Ivana; Orcesi, Simona; Prabhakar, Prab; Rasmussen, Magnhild; Robinson, Robert A.; Rozenberg, Flore; Schmidt, Johanna L.; Steindl, Katharina; Tan, Tiong Y.; Van Der Merwe, William G.; Vanderver, Adeline; Vassallo, Grace; Wakeling, Emma L.; Wassmer, Evangeline; Whittaker, Elizabeth; Livingston, John H.; Lebon, Pierre; Suzuki, Tamio; McLaughlin, Paul J.; Keegan, Liam P.; O'Connell, Mary A.; Lovell, Simon C.; Crow, Yanick J.

In: Nature Genetics, Vol. 44, No. 11, 11.2012, p. 1243-1248.

Research output: Contribution to journalArticlepeer-review

Harvard

Rice, GI, Kasher, PR, Forte, GMA, Mannion, NM, Greenwood, SM, Szynkiewicz, M, Dickerson, JE, Bhaskar, SS, Zampini, M, Briggs, TA, Jenkinson, EM, Bacino, CA, Battini, R, Bertini, E, Brogan, PA, Brueton, LA, Carpanelli, M, De Laet, C, De Lonlay, P, Del Toro, M, Desguerre, I, Fazzi, E, Garcia-Cazorla, À, Heiberg, A, Kawaguchi, M, Kumar, R, Lin, JPSM, Lourenco, CM, Male, AM, Marques, W, Mignot, C, Olivieri, I, Orcesi, S, Prabhakar, P, Rasmussen, M, Robinson, RA, Rozenberg, F, Schmidt, JL, Steindl, K, Tan, TY, Van Der Merwe, WG, Vanderver, A, Vassallo, G, Wakeling, EL, Wassmer, E, Whittaker, E, Livingston, JH, Lebon, P, Suzuki, T, McLaughlin, PJ, Keegan, LP, O'Connell, MA, Lovell, SC & Crow, YJ 2012, 'Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signature', Nature Genetics, vol. 44, no. 11, pp. 1243-1248. https://doi.org/10.1038/ng.2414

APA

Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., Jenkinson, E. M., Bacino, C. A., Battini, R., Bertini, E., Brogan, P. A., Brueton, L. A., Carpanelli, M., De Laet, C., De Lonlay, P., ... Crow, Y. J. (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signature. Nature Genetics, 44(11), 1243-1248. https://doi.org/10.1038/ng.2414

Vancouver

Rice GI, Kasher PR, Forte GMA, Mannion NM, Greenwood SM, Szynkiewicz M et al. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signature. Nature Genetics. 2012 Nov;44(11):1243-1248. https://doi.org/10.1038/ng.2414

Author

Rice, Gillian I. ; Kasher, Paul R. ; Forte, Gabriella M A ; Mannion, Niamh M. ; Greenwood, Sam M. ; Szynkiewicz, Marcin ; Dickerson, Jonathan E. ; Bhaskar, Sanjeev S. ; Zampini, Massimiliano ; Briggs, Tracy A. ; Jenkinson, Emma M. ; Bacino, Carlos A. ; Battini, Roberta ; Bertini, Enrico ; Brogan, Paul A. ; Brueton, Louise A. ; Carpanelli, Marialuisa ; De Laet, Corinne ; De Lonlay, Pascale ; Del Toro, Mireia ; Desguerre, Isabelle ; Fazzi, Elisa ; Garcia-Cazorla, Àngels ; Heiberg, Arvid ; Kawaguchi, Masakazu ; Kumar, Ram ; Lin, Jean Pierre S M ; Lourenco, Charles M. ; Male, Alison M. ; Marques, Wilson ; Mignot, Cyril ; Olivieri, Ivana ; Orcesi, Simona ; Prabhakar, Prab ; Rasmussen, Magnhild ; Robinson, Robert A. ; Rozenberg, Flore ; Schmidt, Johanna L. ; Steindl, Katharina ; Tan, Tiong Y. ; Van Der Merwe, William G. ; Vanderver, Adeline ; Vassallo, Grace ; Wakeling, Emma L. ; Wassmer, Evangeline ; Whittaker, Elizabeth ; Livingston, John H. ; Lebon, Pierre ; Suzuki, Tamio ; McLaughlin, Paul J. ; Keegan, Liam P. ; O'Connell, Mary A. ; Lovell, Simon C. ; Crow, Yanick J. / Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signature. In: Nature Genetics. 2012 ; Vol. 44, No. 11. pp. 1243-1248.

Bibtex

@article{50936850c56342f0aa7dab17dd7d6ce6,
title = "Mutations in ADAR1 cause Aicardi-Gouti{\`e}res syndrome associated with a type i interferon signature",
abstract = "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-Gouti{\`e}res 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. {\textcopyright} 2012 Nature America, Inc. All rights reserved.",
author = "Rice, {Gillian I.} and Kasher, {Paul R.} and Forte, {Gabriella M A} and Mannion, {Niamh M.} and Greenwood, {Sam M.} and Marcin Szynkiewicz and Dickerson, {Jonathan E.} and Bhaskar, {Sanjeev S.} and Massimiliano Zampini and Briggs, {Tracy A.} and Jenkinson, {Emma M.} and Bacino, {Carlos A.} and Roberta Battini and Enrico Bertini and Brogan, {Paul A.} and Brueton, {Louise A.} and Marialuisa Carpanelli and {De Laet}, Corinne and {De Lonlay}, Pascale and {Del Toro}, Mireia and Isabelle Desguerre and Elisa Fazzi and {\`A}ngels Garcia-Cazorla and Arvid Heiberg and Masakazu Kawaguchi and Ram Kumar and Lin, {Jean Pierre S M} and Lourenco, {Charles M.} and Male, {Alison M.} and Wilson Marques and Cyril Mignot and Ivana Olivieri and Simona Orcesi and Prab Prabhakar and Magnhild Rasmussen and Robinson, {Robert A.} and Flore Rozenberg and Schmidt, {Johanna L.} and Katharina Steindl and Tan, {Tiong Y.} and {Van Der Merwe}, {William G.} and Adeline Vanderver and Grace Vassallo and Wakeling, {Emma L.} and Evangeline Wassmer and Elizabeth Whittaker and Livingston, {John H.} and Pierre Lebon and Tamio Suzuki and McLaughlin, {Paul J.} and Keegan, {Liam P.} and O'Connell, {Mary A.} and Lovell, {Simon C.} and Crow, {Yanick J.}",
year = "2012",
month = nov,
doi = "10.1038/ng.2414",
language = "English",
volume = "44",
pages = "1243--1248",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Springer Nature",
number = "11",

}

RIS

TY - JOUR

T1 - Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signature

AU - Rice, Gillian I.

AU - Kasher, Paul R.

AU - Forte, Gabriella M A

AU - Mannion, Niamh M.

AU - Greenwood, Sam M.

AU - Szynkiewicz, Marcin

AU - Dickerson, Jonathan E.

AU - Bhaskar, Sanjeev S.

AU - Zampini, Massimiliano

AU - Briggs, Tracy A.

AU - Jenkinson, Emma M.

AU - Bacino, Carlos A.

AU - Battini, Roberta

AU - Bertini, Enrico

AU - Brogan, Paul A.

AU - Brueton, Louise A.

AU - Carpanelli, Marialuisa

AU - De Laet, Corinne

AU - De Lonlay, Pascale

AU - Del Toro, Mireia

AU - Desguerre, Isabelle

AU - Fazzi, Elisa

AU - Garcia-Cazorla, Àngels

AU - Heiberg, Arvid

AU - Kawaguchi, Masakazu

AU - Kumar, Ram

AU - Lin, Jean Pierre S M

AU - Lourenco, Charles M.

AU - Male, Alison M.

AU - Marques, Wilson

AU - Mignot, Cyril

AU - Olivieri, Ivana

AU - Orcesi, Simona

AU - Prabhakar, Prab

AU - Rasmussen, Magnhild

AU - Robinson, Robert A.

AU - Rozenberg, Flore

AU - Schmidt, Johanna L.

AU - Steindl, Katharina

AU - Tan, Tiong Y.

AU - Van Der Merwe, William G.

AU - Vanderver, Adeline

AU - Vassallo, Grace

AU - Wakeling, Emma L.

AU - Wassmer, Evangeline

AU - Whittaker, Elizabeth

AU - Livingston, John H.

AU - Lebon, Pierre

AU - Suzuki, Tamio

AU - McLaughlin, Paul J.

AU - Keegan, Liam P.

AU - O'Connell, Mary A.

AU - Lovell, Simon C.

AU - Crow, Yanick J.

PY - 2012/11

Y1 - 2012/11

N2 - 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. © 2012 Nature America, Inc. All rights reserved.

AB - 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. © 2012 Nature America, Inc. All rights reserved.

U2 - 10.1038/ng.2414

DO - 10.1038/ng.2414

M3 - Article

C2 - 23001123

VL - 44

SP - 1243

EP - 1248

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 11

ER -