Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
10.1038/ng1845
Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Crow, Y. J., Hayward, B. E., Parmar, R., Robins, P., Leitch, A., Ali, M., Black, D. N., van Bokhoven, H., Brunner, H. G., Hamel, B. C., Corry, P. C., Cowan, F. M., Frints, S. G., Klepper, J., Livingston, J. H., Lynch, S. A., Massey, R. F., Meritet, J. F., Michaud, J. L., … Lindahl, T. (2006). Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nature Genetics, 38(8), 917–920.

Authors 26
  1. Yanick J Crow (first)
  2. Bruce E Hayward (additional)
  3. Rekha Parmar (additional)
  4. Peter Robins (additional)
  5. Andrea Leitch (additional)
  6. Manir Ali (additional)
  7. Deborah N Black (additional)
  8. Hans van Bokhoven (additional)
  9. Han G Brunner (additional)
  10. Ben C Hamel (additional)
  11. Peter C Corry (additional)
  12. Frances M Cowan (additional)
  13. Suzanne G Frints (additional)
  14. Joerg Klepper (additional)
  15. John H Livingston (additional)
  16. Sally Ann Lynch (additional)
  17. Roger F Massey (additional)
  18. Jean François Meritet (additional)
  19. Jacques L Michaud (additional)
  20. Gerard Ponsot (additional)
  21. Thomas Voit (additional)
  22. Pierre Lebon (additional)
  23. David T Bonthron (additional)
  24. Andrew P Jackson (additional)
  25. Deborah E Barnes (additional)
  26. Tomas Lindahl (additional)
References 30 Referenced 779
  1. Aicardi, J. & Goutières, F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann. Neurol. 15, 49–54 (1984). (10.1002/ana.410150109) / Ann. Neurol. by J Aicardi (1984)
  2. Sanchis, A. et al. Genetic syndrome mimics congenital infection. J. Pediatr. 146, 701–705 (2005). (10.1016/j.jpeds.2005.01.033) / J. Pediatr. by A Sanchis (2005)
  3. Crow, Y.J. et al. Cree encephalitis is allelic with Aicardi-Goutières 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)
  4. Lindahl, T., Gally, J.A. & Edelman, G.M. Properties of deoxyribonuclease 3 from mammalian tissues. J. Biol. Chem. 244, 5014–5019 (1969). (10.1016/S0021-9258(18)94303-6) / J. Biol. Chem. by T Lindahl (1969)
  5. Morita, M. et al. Gene-targeted mice lacking the Trex1 (DNase III) 3′ → 5′ DNA exonuclease develop inflammatory myocarditis. Mol. Cell. Biol. 24, 6719–6727 (2004). (10.1128/MCB.24.15.6719-6727.2004) / Mol. Cell. Biol. by M Morita (2004)
  6. Goutières, F. et al. Aicardi-Goutières syndrome: an update and results of interferon-α studies. Ann. Neurol. 44, 900–907 (1998). (10.1002/ana.410440608) / Ann. Neurol. by F Goutières (1998)
  7. Lebon, P. et al. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J. Neurol. Sci. 84, 201–208 (1988). (10.1016/0022-510X(88)90125-6) / J. Neurol. Sci. by P Lebon (1988)
  8. 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)
  9. Aicardi, J. & Goutières, F. Systemic lupus erythematosus or Aicardi-Goutières syndrome? Neuropediatrics 31, 113 (2000). (10.1055/s-2000-7533) / Neuropediatrics by J Aicardi (2000)
  10. 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)
  11. Lebon, P. et al. Synthesis of intrathecal interferon in systemic lupus erythematosus with neurological complications. Br. Med. J. 287, 1165–1167 (1983). (10.1136/bmj.287.6400.1165) / Br. Med. J. by P Lebon (1983)
  12. Preble, O.T., Black, R.J., Friedman, R.M., Klippel, J.H. & Vilcek, J. Systemic lupus erythematosus: presence in human serum of an unusual acid-labile leukocyte interferon. Science 216, 429–431 (1982). (10.1126/science.6176024) / Science by OT Preble (1982)
  13. Batteux, F., Palmer, P., Daeron, M., Weill, B. & Lebon, P.F.C. γRII (CD32)-dependent induction of interferon-alpha by serum from patients with lupus erythematosus. Eur. Cytokine Netw. 10, 509–513 (1999). / Eur. Cytokine Netw. by F Batteux (1999)
  14. Raymond, A.A., Zariah, A.A., Samad, S.A., Chin, C.N. & Kong, N.C. Brain calcification in patients with cerebral lupus. Lupus 5, 123–128 (1996). (10.1177/096120339600500207) / Lupus by AA Raymond (1996)
  15. Rich, S.A., Owens, T.R., Anzola, M.C. & Bartholomew, L.E. Induction of lupus inclusions by sera from patients with systemic lupus erythematosus. Arthritis Rheum. 29, 501–507 (1986). (10.1002/art.1780290407) / Arthritis Rheum. by SA Rich (1986)
  16. Stephenson, J.B. Aicardi-Goutieres syndrome–observations of the Glasgow school. Eur. J. Paediatr. Neurol. 6 (Suppl.), 67–70 (2002). (10.1053/ejpn.2002.0578) / Eur. J. Paediatr. Neurol. by JB Stephenson (2002)
  17. Crow, Y.J. et al. Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am. J. Hum. Genet. 67, 213–221 (2000). (10.1086/302955) / Am. J. Hum. Genet. by YJ Crow (2000)
  18. Black, D.N. et al. Encephalitis among Cree children in northern Quebec. Ann. Neurol. 24, 483–489 (1988). (10.1002/ana.410240402) / Ann. Neurol. by DN Black (1988)
  19. Ali, M. et al. A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21. J. Med. Genet. 43, 444–450 (2005). (10.1136/jmg.2005.031880) / J. Med. Genet. by M Ali (2005)
  20. Crow, Y.J. et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi- Goutières syndrome, which mimics congenital viral brain infection. Nat. Genet. advance online publication 16 July 2006 (doi:10.1038/ng1842). (10.1038/ng1842)
  21. Napirei, M. et al. Features of systemic lupus erythematosus in DNase1-deficient mice. Nat. Genet. 25, 177–181 (2000). (10.1038/76032) / Nat. Genet. by M Napirei (2000)
  22. Kawane, K. et al. Impaired thymic development in mouse embryos deficient in apoptotic DNA degradation. Nat. Immunol. 4, 138–144 (2003). (10.1038/ni881) / Nat. Immunol. by K Kawane (2003)
  23. Yasutomo, K. et al. Mutation of DNASE1 in people with systemic lupus erythematosus. Nat. Genet. 28, 313–314 (2001). (10.1038/91070) / Nat. Genet. by K Yasutomo (2001)
  24. Mazur, D.J. & Perrino, F.W. Structure and expression of the TREX1 and TREX2 3′ → 5′ exonuclease genes. J. Biol. Chem. 274, 14718–14727 (2001). (10.1074/jbc.M010051200) / J. Biol. Chem. by DJ Mazur (2001)
  25. Hoss, M. et al. A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein. EMBO J. 18, 3868–3875 (1999). (10.1093/emboj/18.13.3868) / EMBO J. by M Hoss (1999)
  26. Perrino, F.W., Harvey, S., McMillin, S. & Hollis, T. The human TREX2 3′ → 5′-exonuclease structure suggests a mechanism for efficient nonprocessive DNA catalysis. J. Biol. Chem. 280, 15212–15218 (2005). (10.1074/jbc.M500108200) / J. Biol. Chem. by FW Perrino (2005)
  27. Prokunina, L. & Alarcon-Riquelme, M. The genetic basis of systemic lupus erythematosus – knowledge of today and thoughts for tomorrow. Hum. Mol. Genet. 13, R143–R148 (2004). (10.1093/hmg/ddh076) / Hum. Mol. Genet. by L Prokunina (2004)
  28. 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)
  29. Akwa, Y. et al. Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. J. Immunol. 161, 5016–5026 (1998). (10.4049/jimmunol.161.9.5016) / J. Immunol. by Y Akwa (1998)
  30. Ishii, K.J. & Akira, S. Innate immune recognition of nucleic acids: beyond toll-like receptors. Int. J. Cancer 117, 517–523 (2005). (10.1002/ijc.21402) / Int. J. Cancer by KJ Ishii (2005)
Dates
Type When
Created 19 years, 1 month ago (July 16, 2006, 1:55 p.m.)
Deposited 2 years, 3 months ago (May 18, 2023, 6:12 p.m.)
Indexed 1 day, 7 hours ago (Aug. 24, 2025, 7:02 p.m.)
Issued 19 years, 1 month ago (July 16, 2006)
Published 19 years, 1 month ago (July 16, 2006)
Published Online 19 years, 1 month ago (July 16, 2006)
Published Print 19 years ago (Aug. 1, 2006)
Funders 0

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@article{Crow_2006, title={Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus}, volume={38}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng1845}, DOI={10.1038/ng1845}, number={8}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Crow, Yanick J and Hayward, Bruce E and Parmar, Rekha and Robins, Peter and Leitch, Andrea and Ali, Manir and Black, Deborah N and van Bokhoven, Hans and Brunner, Han G and Hamel, Ben C and Corry, Peter C and Cowan, Frances M and Frints, Suzanne G and Klepper, Joerg and Livingston, John H and Lynch, Sally Ann and Massey, Roger F and Meritet, Jean François and Michaud, Jacques L and Ponsot, Gerard and Voit, Thomas and Lebon, Pierre and Bonthron, David T and Jackson, Andrew P and Barnes, Deborah E and Lindahl, Tomas}, year={2006}, month=jul, pages={917–920} }