Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
10.1038/ng.373
Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Rice, G. I., Bond, J., Asipu, A., Brunette, R. L., Manfield, I. W., Carr, I. M., Fuller, J. C., Jackson, R. M., 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., … Crow, Y. J. (2009). Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nature Genetics, 41(7), 829–832.

Authors 51
  1. Gillian I Rice (first)
  2. Jacquelyn Bond (additional)
  3. Aruna Asipu (additional)
  4. Rebecca L Brunette (additional)
  5. Iain W Manfield (additional)
  6. Ian M Carr (additional)
  7. Jonathan C Fuller (additional)
  8. Richard M Jackson (additional)
  9. Teresa Lamb (additional)
  10. Tracy A Briggs (additional)
  11. Manir Ali (additional)
  12. Hannah Gornall (additional)
  13. Lydia R Couthard (additional)
  14. Alec Aeby (additional)
  15. Simon P Attard-Montalto (additional)
  16. Enrico Bertini (additional)
  17. Christine Bodemer (additional)
  18. Knut Brockmann (additional)
  19. Louise A Brueton (additional)
  20. Peter C Corry (additional)
  21. Isabelle Desguerre (additional)
  22. Elisa Fazzi (additional)
  23. Angels Garcia Cazorla (additional)
  24. Blanca Gener (additional)
  25. Ben C J Hamel (additional)
  26. Arvid Heiberg (additional)
  27. Matthew Hunter (additional)
  28. Marjo S van der Knaap (additional)
  29. Ram Kumar (additional)
  30. Lieven Lagae (additional)
  31. Pierre G Landrieu (additional)
  32. Charles M Lourenco (additional)
  33. Daphna Marom (additional)
  34. Michael F McDermott (additional)
  35. William van der Merwe (additional)
  36. Simona Orcesi (additional)
  37. Julie S Prendiville (additional)
  38. Magnhild Rasmussen (additional)
  39. Stavit A Shalev (additional)
  40. Doriette M Soler (additional)
  41. Marwan Shinawi (additional)
  42. Ronen Spiegel (additional)
  43. Tiong Y Tan (additional)
  44. Adeline Vanderver (additional)
  45. Emma L Wakeling (additional)
  46. Evangeline Wassmer (additional)
  47. Elizabeth Whittaker (additional)
  48. Pierre Lebon (additional)
  49. Daniel B Stetson (additional)
  50. David T Bonthron (additional)
  51. Yanick J Crow (additional)
References 30 Referenced 619
  1. Crow, Y.J. & Livingston, J.H. Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection. Dev. Med. Child Neurol. 50, 410–416 (2008). (10.1111/j.1469-8749.2008.02062.x) / Dev. Med. Child Neurol. by YJ Crow (2008)
  2. Dussaix, E., Lebon, P., Ponsot, G., Huault, G. & Tardieu, M. Intrathecal synthesis of different alpha-interferons in patients with various neurological diseases. Acta Neurol. Scand. 71, 504–509 (1985). (10.1111/j.1600-0404.1985.tb03235.x) / Acta Neurol. Scand. by E Dussaix (1985)
  3. Crow, M.K. Type I interferon in systemic lupus erythematosus. Curr. Top. Microbiol. Immunol. 316, 359–386 (2007). / Curr. Top. Microbiol. Immunol. by MK Crow (2007)
  4. Dale, R.C., Tang, S.P., Heckmatt, J.Z. & Tatnall, F.M. Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics 31, 155–158 (2000). (10.1055/s-2000-7492) / Neuropediatrics by RC Dale (2000)
  5. Aicardi, J. & Goutieres, F. Systemic lupus erythematosus or Aicardi-Goutieres syndrome? Neuropediatrics 31, 113 (2000). (10.1055/s-2000-7533) / Neuropediatrics by J Aicardi (2000)
  6. De Laet, C. et al. Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutieres syndrome. Neuropediatrics 36, 399–402 (2005). (10.1055/s-2005-873058) / Neuropediatrics by C De Laet (2005)
  7. Rasmussen, M., Skullerud, K., Bakke, S.J., Lebon, P. & Jahnsen, F.L. Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome–report of two sisters. Neuropediatrics 36, 40–44 (2005). (10.1055/s-2004-830532) / Neuropediatrics by M Rasmussen (2005)
  8. Crow, Y.J. et al. Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. J. Med. Genet. 40, 183–187 (2003). (10.1136/jmg.40.3.183) / J. Med. Genet. by YJ Crow (2003)
  9. Crow, Y.J. et al. Mutations in the gene encoding the 3′–5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat. Genet. 38, 917–920 (2006). (10.1038/ng1845) / Nat. Genet. by YJ Crow (2006)
  10. Crow, Y.J. et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat. Genet. 38, 910–916 (2006). (10.1038/ng1842) / Nat. Genet. by YJ Crow (2006)
  11. Rice, G. et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am. J. Hum. Genet. 80, 811–815 (2007). (10.1086/513443) / Am. J. Hum. Genet. by G Rice (2007)
  12. Lee-Kirsch, M.A. et al. Mutations in the gene encoding the 3′–5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat. Genet. 39, 1065–1067 (2007). (10.1038/ng2091) / Nat. Genet. by MA Lee-Kirsch (2007)
  13. Yang, Y.G., Lindahl, T. & Barnes, D.E. Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell 131, 873–886 (2007). (10.1016/j.cell.2007.10.017) / Cell by YG Yang (2007)
  14. Stetson, D.B., Ko, J.S., Heidmann, T. & Medzhitov, R. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell 134, 587–598 (2008). (10.1016/j.cell.2008.06.032) / Cell by DB Stetson (2008)
  15. Rice, G. et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am. J. Hum. Genet. 81, 713–725 (2007). (10.1086/521373) / Am. J. Hum. Genet. by G Rice (2007)
  16. Farrugia, R. et al. Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population. Mol. Genet. Metab. 90, 277–283 (2007). (10.1016/j.ymgme.2006.10.013) / Mol. Genet. Metab. by R Farrugia (2007)
  17. Li, N., Zhang, W. & Cao, X. Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells. Immunol. Lett. 74, 221–224 (2000). (10.1016/S0165-2478(00)00276-5) / Immunol. Lett. by N Li (2000)
  18. Hartman, Z.C. et al. Adenovirus infection triggers a rapid, MyD88-regulated transcriptome response critical to acute-phase and adaptive immune responses in vivo. J. Virol. 81, 1796–1812 (2007). (10.1128/JVI.01936-06) / J. Virol. by ZC Hartman (2007)
  19. Prehaud, C., Megret, F., Lafage, M. & Lafon, M. Virus infection switches TLR-3-positive human neurons to become strong producers of beta interferon. J. Virol. 79, 12893–12904 (2005). (10.1128/JVI.79.20.12893-12904.2005) / J. Virol. by C Prehaud (2005)
  20. Zhao, D., Peng, D., Li, L., Zhang, Q. & Zhang, C. Inhibition of G1P3 expression found in the differential display study on respiratory syncytial virus infection. Virol. J. 5, 114 (2008). (10.1186/1743-422X-5-114) / Virol. J. by D Zhao (2008)
  21. Liao, W., Bao, Z., Cheng, C., Mok, Y.K. & Wong, W.S. Dendritic cell-derived interferon-gamma-induced protein mediates tumor necrosis factor-alpha stimulation of human lung fibroblasts. Proteomics 8, 2640–2650 (2008). (10.1002/pmic.200700954) / Proteomics by W Liao (2008)
  22. Crow, M.K., Kirou, K.A. & Wohlgemuth, J. Microarray analysis of interferon-regulated genes in SLE. Autoimmunity 36, 481–490 (2003). (10.1080/08916930310001625952) / Autoimmunity by MK Crow (2003)
  23. Qiao, F. & Bowie, J.U. The many faces of SAM. Sci. STKE 2005, re7 (2005). (10.1126/stke.2862005re7) / Sci. STKE by F Qiao (2005)
  24. Oberstrass, F.C. et al. Shape-specific recognition in the structure of the Vts1p SAM domain with RNA. Nat. Struct. Mol. Biol. 13, 160–167 (2006). (10.1038/nsmb1038) / Nat. Struct. Mol. Biol. by FC Oberstrass (2006)
  25. Aravind, L. & Koonin, E.V. The HD domain defines a new superfamily of metal-dependent phosphohydrolases. Trends Biochem. Sci. 23, 469–472 (1998). (10.1016/S0968-0004(98)01293-6) / Trends Biochem. Sci. by L Aravind (1998)
  26. Zimmerman, M.D., Proudfoot, M., Yakunin, A. & Minor, W. Structural insight into the mechanism of substrate specificity and catalytic activity of an HD-domain phosphohydrolase: the 5′-deoxyribonucleotidase YfbR from Escherichia coli. J. Mol. Biol. 378, 215–226 (2008). (10.1016/j.jmb.2008.02.036) / J. Mol. Biol. by MD Zimmerman (2008)
  27. Oussenko, I.A., Sanchez, R. & Bechhofer, D.H. Bacillus subtilis YhaM, a member of a new family of 3′-to-5′ exonucleases in gram-positive bacteria. J. Bacteriol. 184, 6250–6259 (2002). (10.1128/JB.184.22.6250-6259.2002) / J. Bacteriol. by IA Oussenko (2002)
  28. Alarcón-Riquelme, M.E. Nucleic acid by-products and chronic inflammation. Nat. Genet. 38, 866–867 (2006). (10.1038/ng0806-866) / Nat. Genet. by ME Alarcón-Riquelme (2006)
  29. Coscoy, L. & Raulet, D.H. DNA mismanagement leads to immune system oversight. Cell 131, 836–838 (2007). (10.1016/j.cell.2007.11.012) / Cell by L Coscoy (2007)
  30. Bhoj, V.G. & Chen, Z.J. Linking retroelements to autoimmunity. Cell 134, 569–571 (2008). (10.1016/j.cell.2008.08.010) / Cell by VG Bhoj (2008)
Dates
Type When
Created 16 years, 2 months ago (June 14, 2009, 9:25 p.m.)
Deposited 2 years, 3 months ago (May 25, 2023, 1:34 p.m.)
Indexed 3 minutes ago (Aug. 29, 2025, 3:24 p.m.)
Issued 16 years, 2 months ago (June 14, 2009)
Published 16 years, 2 months ago (June 14, 2009)
Published Online 16 years, 2 months ago (June 14, 2009)
Published Print 16 years, 1 month ago (July 1, 2009)
Funders 0

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@article{Rice_2009, title={Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response}, volume={41}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng.373}, DOI={10.1038/ng.373}, number={7}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Rice, Gillian I and Bond, Jacquelyn and Asipu, Aruna and Brunette, Rebecca L and Manfield, Iain W and Carr, Ian M and Fuller, Jonathan C and Jackson, Richard M and Lamb, Teresa and Briggs, Tracy A and Ali, Manir and Gornall, Hannah and Couthard, Lydia R and Aeby, Alec and Attard-Montalto, Simon P and Bertini, Enrico and Bodemer, Christine and Brockmann, Knut and Brueton, Louise A and Corry, Peter C and Desguerre, Isabelle and Fazzi, Elisa and Cazorla, Angels Garcia and Gener, Blanca and Hamel, Ben C J and Heiberg, Arvid and Hunter, Matthew and van der Knaap, Marjo S and Kumar, Ram and Lagae, Lieven and Landrieu, Pierre G and Lourenco, Charles M and Marom, Daphna and McDermott, Michael F and van der Merwe, William and Orcesi, Simona and Prendiville, Julie S and Rasmussen, Magnhild and Shalev, Stavit A and Soler, Doriette M and Shinawi, Marwan and Spiegel, Ronen and Tan, Tiong Y and Vanderver, Adeline and Wakeling, Emma L and Wassmer, Evangeline and Whittaker, Elizabeth and Lebon, Pierre and Stetson, Daniel B and Bonthron, David T and Crow, Yanick J}, year={2009}, month=jun, pages={829–832} }