Endogenous retroelements and autoimmune disease

Current Opinion in Immunology

Volumn 24, Issue 6, 2012, Pages 692-697

  Stetson, Daniel B ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3' REPAIR EXONUCLEASE 1; ANTIRETROVIRUS AGENT; ENDONUCLEASE; EXONUCLEASE; RNA DIRECTED DNA POLYMERASE; RNA DIRECTED DNA POLYMERASE INHIBITOR; RNASEH2; TOLL LIKE RECEPTOR; UNCLASSIFIED DRUG;

AICARDI GOUTIERES SYNDROME; AUTOIMMUNE DISEASE; ENDOGENOUS RETROVIRUS; GENE; GENE MUTATION; HOST RESISTANCE; HUMAN; HUMAN GENOME; HUMAN IMMUNODEFICIENCY VIRUS; IMMUNE RESPONSE; INNATE IMMUNITY; INTERFERON STIMULATORY DNA PATHWAY; LONG INTERSPERSED REPEAT; LONG TERMINAL REPEAT; NONHUMAN; RETROPOSON; REVERSE TRANSCRIPTION; REVIEW; SAMHD1 GENE; SHORT INTERSPERSED REPEAT; SJOEGREN SYNDROME; SYSTEMIC LUPUS ERYTHEMATOSUS; TREX1 GENE; VIRUS GENOME; VIRUS REPLICATION;

AUTOANTIBODIES; AUTOANTIGENS; AUTOIMMUNE DISEASES; CHROMATIN; HUMANS; IMMUNITY, INNATE; RETROELEMENTS; RIBONUCLEOPROTEINS;

EID: 84869862031     PISSN: 09527915     EISSN: 18790372     Source Type: Journal    
DOI: 10.1016/j.coi.2012.09.007     Document Type: Review

References (43)

1. Barbalat R., Ewald S.E., Mouchess M.L., Barton G.M. Nucleic acid recognition by the innate immune system. Annu Rev Immunol 2011, 29:185-214.
2. Marshak-Rothstein A., Rifkin I.R. Immunologically active autoantigens: the role of toll-like receptors in the development of chronic inflammatory disease. Annu Rev Immunol 2007, 25:419-441.
3. Kolumam G.A., Thomas S., Thompson L.J., Sprent J., Murali-Krishna K. Type I interferons act directly on CD8 T cells to allow clonal expansion and memory formation in response to viral infection. J Exp Med 2005, 202:637-650.
4. Leadbetter E.A., Rifkin I.R., Hohlbaum A.M., Beaudette B.C., Shlomchik M.J., Marshak-Rothstein A. Chromatin-IgG complexes activate B cells by dual engagement of IgM and Toll-like receptors. Nature 2002, 416:603-607.
5. Goodier J.L., Kazazian H.H. Retrotransposons revisited: the restraint and rehabilitation of parasites. Cell 2008, 135:23-35.
6. Colmegna I., Garry R.F. Role of endogenous retroviruses in autoimmune diseases. Infect Dis Clin North Am 2006, 20:913-929.
7. Balada E., Ordi-Ros J., Vilardell-Tarres M. Molecular mechanisms mediated by human endogenous retroviruses (HERVs) in autoimmunity. Rev Med Virol 2009, 19:273-286.
8. Perron H., Germi R., Bernard C., Garcia-Montojo M., Deluen C., Farinelli L., Faucard R., Veas F., Stefas I., Fabriek B.O., et al. Human endogenous retrovirus type W envelope expression in blood and brain cells provides new insights into multiple sclerosis disease. Mult Scler 2012, [Online ahead of print].
9. Perl A., Nagy G., Koncz A., Gergely P., Fernandez D., Doherty E., Telarico T., Bonilla E., Phillips P.E. Molecular mimicry and immunomodulation by the HRES-1 endogenous retrovirus in SLE. Autoimmunity 2008, 41:287-297.
10. Sander D.M., Szabo S., Gallaher W.R., Deas J.E., Thompson J.J., Cao Y., Luo-Zhang H., Liu L.G., Colmegna I., Koehler J., et al. Involvement of human intracisternal A-type retroviral particles in autoimmunity. Microsc Res Tech 2005, 68:222-234.
11. Stetson D.B., Medzhitov R. Recognition of cytosolic DNA activates an IRF3-dependent innate immune response. Immunity 2006, 24:93-103.
12. Ishii K.J., Coban C., Kato H., Takahashi K., Torii Y., Takeshita F., Ludwig H., Sutter G., Suzuki K., Hemmi H., et al. A Toll-like receptor-independent antiviral response induced by double-stranded B-form DNA. Nat Immunol 2006, 7:40-48.
13. Ishikawa H., Barber G.N. STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling. Nature 2008, 455:674-678.
14. Zhong B., Yang Y., Li S., Wang Y.Y., Li Y., Diao F., Lei C., He X., Zhang L., Tien P., et al. The adaptor protein MITA links virus-sensing receptors to IRF3 transcription factor activation. Immunity 2008, 29:538-550.
15. Unterholzner L., Keating S.E., Baran M., Horan K.A., Jensen S.B., Sharma S., Sirois C.M., Jin T., Latz E., Xiao T.S., et al. IFI16 is an innate immune sensor for intracellular DNA. Nat Immunol 2010, 11:997-1004.
16. Manzanillo P.S., Shiloh M.U., Portnoy D.A., Cox J.S. Mycobacterium tuberculosis activates the DNA-dependent cytosolic surveillance pathway within macrophages. Cell Host Microbe 2012, 11:469-480.
17. Stetson D.B., Ko J.S., Heidmann T., Medzhitov R. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell 2008, 134:587-598.
18. Lindahl T., Gally J.A., Edelman G.M. Properties of deoxyribonuclease 3 from mammalian tissues. J Biol Chem 1969, 244:5014-5019.
19. 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., et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet 2006, 38:917-920.
20. Lee-Kirsch M.A., Gong M., Chowdhury D., Senenko L., Engel K., Lee Y.A., de Silva U., Bailey S.L., Witte T., Vyse T.J., et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 2007, 39:1065-1067.
21. Rice G., Newman W.G., Dean J., Patrick T., Parmar R., Flintoff K., Robins P., Harvey S., Hollis T., O'Hara A., et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet 2007, 80:811-815.
22. Namjou B., Kothari P.H., Kelly J.A., Glenn S.B., Ojwang J.O., Adler A., Alarcon-Riquelme M.E., Gallant C.J., Boackle S.A., Criswell L.A., et al. Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun 2011, 12:270-279.
23. Gall A., Treuting P., Elkon K.B., Loo Y.M., Gale M., Barber G.N., Stetson D.B. Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease. Immunity 2012, 36:120-131.
24. Yan N., Regalado-Magdos A.D., Stiggelbout B., Lee-Kirsch M.A., Lieberman J. The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. Nat Immunol 2010, 11:1005-1013.
25. Okumura A., Alce T., Lubyova B., Ezelle H., Strebel K., Pitha P.M. HIV-1 accessory proteins VPR and Vif modulate antiviral response by targeting IRF-3 for degradation. Virology 2008, 373:85-97.
26. Doehle B.P., Chang K., Rustagi A., McNevin J., McElrath M.J., Gale M. Vpu Mediates depletion of interferon regulatory factor 3 during HIV Infection by a lysosome-dependent mechanism. J Virol 2012, 86:8367-8374.
27. Doehle B.P., Hladik F., McNevin J.P., McElrath M.J., Gale M. Human immunodeficiency virus type 1 mediates global disruption of innate antiviral signaling and immune defenses within infected cells. J Virol 2009, 83:10395-10405.
28. Doitsh G., Cavrois M., Lassen K.G., Zepeda O., Yang Z., Santiago M.L., Hebbeler A.M., Greene W.C. Abortive HIV infection mediates CD4 T cell depletion and inflammation in human lymphoid tissue. Cell 2010, 143:789-801.
29. Manel N., Hogstad B., Wang Y., Levy D.E., Unutmaz D., Littman D.R. A cryptic sensor for HIV-1 activates antiviral innate immunity in dendritic cells. Nature 2010, 467:214-217.
30. Manel N., Littman D.R. Hiding in plain sight: how HIV evades innate immune responses. Cell 2011, 147:271-274.
31. 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., et al. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 2009, 41:829-832.
32. Laguette N., Sobhian B., Casartelli N., Ringeard M., Chable-Bessia C., Segeral E., Yatim A., Emiliani S., Schwartz O., Benkirane M. SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx. Nature 2011, 474:654-657.
33. Hrecka K., Hao C., Gierszewska M., Swanson S.K., Kesik-Brodacka M., Srivastava S., Florens L., Washburn M.P., Skowronski J. Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein. Nature 2011, 474:658-661.
34. Powell R.D., Holland P.J., Hollis T., Perrino F.W. Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase. J Biol Chem 2011, 286:43596-43600.
35. Goldstone D.C., Ennis-Adeniran V., Hedden J.J., Groom H.C., Rice G.I., Christodoulou E., Walker P.A., Kelly G., Haire L.F., Yap M.W., et al. HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. Nature 2011, 480:379-382.
36. Crow Y.J., Leitch A., Hayward B.E., Garner A., Parmar R., Griffith E., Ali M., Semple C., Aicardi J., Babul-Hirji R., et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet 2006, 38:910-916.
37. Reijns M.A., Rabe B., Rigby R.E., Mill P., Astell K.R., Lettice L.A., Boyle S., Leitch A., Keighren M., Kilanowski F., et al. Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development. Cell 2012, 149:1008-1022.
38. Hiller B., Achleitner M., Glage S., Naumann R., Behrendt R., Roers A. Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity. J Exp Med 2012, 209:1419-1426.
39. Rice G., Patrick T., Parmar R., Taylor C.F., Aeby A., Aicardi J., Artuch R., Montalto S.A., Bacino C.A., Barroso B., et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007, 81:713-725.
40. Thoms K.M., Kuschal C., Emmert S. Lessons learned from DNA repair defective syndromes. Exp Dermatol 2007, 16:532-544.
41. Lehtinen D.A., Harvey S., Mulcahy M.J., Hollis T., Perrino F.W. The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. J Biol Chem 2008, 283:31649-31656.
42. Perrino F.W., Harvey S., Shaban N.M., Hollis T. RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. J Mol Med 2009, 87:25-30.
43. Beck-Engeser G.B., Eilat D., Wabl M. An autoimmune disease prevented by anti-retroviral drugs. Retrovirology 2011, 8:91.