RIG-I-like receptors and autoimmune diseases

Current Opinion in Immunology

Volumn 37, Issue , 2015, Pages 40-45

  Kato, Hiroki ^a,b   Fujita, Takashi ^a  

^a KYOTO UNIVERSITY   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; ALANINE; ARGININE; CYTOKINE; DEOXYRIBONUCLEASE I; DOUBLE STRANDED RNA; GLUTAMIC ACID; GLYCINE; HISTIDINE; INTERFERON; PROTEIN RLR; RETINOIC ACID INDUCIBLE PROTEIN I; SERINE; TOLL LIKE RECEPTOR 7; UNCLASSIFIED DRUG; DDX58 PROTEIN, HUMAN; DEAD BOX PROTEIN; IFIH1 PROTEIN, MOUSE; TRANSCRIPTOME; VIRUS RNA;

AICARDI GOUTIERES SYNDROME; AUTOIMMUNE DISEASE; AUTOIMMUNITY; CYTOKINE PRODUCTION; EXOME; GAIN OF FUNCTION MUTATION; GENETIC CODE; HUMAN; MISSENSE MUTATION; MOLECULAR MECHANICS; MOUSE MUTANT; MUTATIONAL ANALYSIS; NONHUMAN; PHENOTYPE; PROTEIN EXPRESSION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLETON MERTEN SYNDROME; SYSTEMIC DISEASE; SYSTEMIC LUPUS ERYTHEMATOSUS; ANIMAL; GENETICS; IMMUNOLOGY; METABOLISM; MOUSE; MUTANT MOUSE STRAIN; MUTATION;

ANIMALS; AUTOIMMUNE DISEASES; DEAD-BOX RNA HELICASES; HUMANS; INTERFERON TYPE I; MICE; MICE, MUTANT STRAINS; MUTATION; RNA, VIRAL; TRANSCRIPTOME;

EID: 84945945130     PISSN: 09527915     EISSN: 18790372     Source Type: Journal    
DOI: 10.1016/j.coi.2015.10.002     Document Type: Review

References (47)

1. Yoneyama M., Kikuchi M., Matsumoto K., Imaizumi T., Miyagishi M., Taira K., Foy E., Loo Y.M., Gale M., Akira S., Yonehara S., et al. Shared and unique functions of the DExD/H-box helicases RIG-I, MDA5, and LGP2 in antiviral innate immunity. J Immunol 2005, 175:2851-2858.
2. Yoneyama M., Kikuchi M., Natsukawa T., Shinobu N., Imaizumi T., Miyagishi M., Taira K., Akira S., Fujita T. The RNA helicase RIG-I has an essential function in double-stranded RNA-induced innate antiviral responses. Nat Immunol 2004, 5:730-737.
3. Kato H., Takeuchi O., Mikamo-Satoh E., Hirai R., Kawai T., Matsushita K., Hiiragi A., Dermody T.S., Fujita T., Akira S. Length-dependent recognition of double-stranded ribonucleic acids by retinoic acid-inducible gene-I and melanoma differentiation-associated gene 5. J Exp Med 2008, 205:1601-1610.
4. Kato H., Takeuchi O., Sato S., Yoneyama M., Yamamoto M., Matsui K., Uematsu S., Jung A., Kawai T., Ishii K.J., Yamaguchi O., et al. Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses. Nature 2006, 441:101-105.
5. Pichlmair A., Schulz O., Tan C.P., Naslund T.I., Liljestrom P., Weber F., Reis e Sousa C. RIG-I-mediated antiviral responses to single-stranded RNA bearing 5'-phosphates. Science 2006, 314:997-1001.
6. Rehwinkel J., Tan C.P., Goubau D., Schulz O., Pichlmair A., Bier K., Robb N., Vreede F., Barclay W., Fodor E., Reis e Sousa C. RIG-I detects viral genomic RNA during negative-strand RNA virus infection. Cell 2010, 140:397-408.
7. Schuberth-Wagner C., Ludwig J., Bruder A.K., Herzner A.M., Zillinger T., Goldeck M., Schmidt T., Schmid-Burgk J.L., Kerber R., Wolter S., Stumpel J.P., et al. A conserved histidine in the RNA sensor RIG-I controls immune tolerance to N1-2'O-methylated self RNA. Immunity 2015, 43:41-51.
8. Hornung V., Ellegast J., Kim S., Brzozka K., Jung A., Kato H., Poeck H., Akira S., Conzelmann K.K., Schlee M., Endres S., et al. 5'-Triphosphate RNA is the ligand for RIG-I. Science 2006, 314:994-997.
9. Goubau D., Schlee M., Deddouche S., Pruijssers A.J., Zillinger T., Goldeck M., Schuberth C., Van der Veen A.G., Fujimura T., Rehwinkel J., Iskarpatyoti J.A., et al. Antiviral immunity via RIG-I-mediated recognition of RNA bearing 5'-diphosphates. Nature 2014, 514:372-375.
10. Satoh T., Kato H., Kumagai Y., Yoneyama M., Sato S., Matsushita K., Tsujimura T., Fujita T., Akira S., Takeuchi O. LGP2 is a positive regulator of RIG-I- and MDA5-mediated antiviral responses. Proc Natl Acad Sci U S A 2010, 107:1512-1517.
11. Schlee M., Roth A., Hornung V., Hagmann C.A., Wimmenauer V., Barchet W., Coch C., Janke M., Mihailovic A., Wardle G., Juranek S., et al. Recognition of 5' triphosphate by RIG-I helicase requires short blunt double-stranded RNA as contained in panhandle of negative-strand virus. Immunity 2009, 31:25-34.
12. Peisley A., Lin C., Wu B., Orme-Johnson M., Liu M., Walz T., Hur S. Cooperative assembly and dynamic disassembly of MDA5 filaments for viral dsRNA recognition. Proc Natl Acad Sci U S A 2011, 108:21010-21015.
13. Wu B., Hur S. How RIG-I like receptors activate MAVS. Curr Opin Virol 2015, 12:91-98.
14. Davis M.E., Gack M.U. Ubiquitination in the antiviral immune response. Virology 2015, 479-480:52-65.
15. Kell A.M., Gale M. RIG-I in RNA virus recognition. Virology 2015, 479-480:110-121.
16. Bruns A.M., Horvath C.M. LGP2 synergy with MDA5 in RLR-mediated RNA recognition and antiviral signaling. Cytokine 2015, 74:198-206.
17. Yoneyama M., Onomoto K., Jogi M., Akaboshi T., Fujita T. Viral RNA detection by RIG-I-like receptors. Curr Opin Immunol 2015, 32:48-53.
18. Varzari A., Bruch K., Deyneko I.V., Chan A., Epplen J.T., Hoffjan S. Analysis of polymorphisms in RIG-I-like receptor genes in German multiple sclerosis patients. J Neuroimmunol 2014, 277:140-144.
19. Dou Q., Peng Y., Zhou B., Lin J., Li Y., Yang H., Xie Q., Li C., Zhang L., Rao L. Association of innate immune IFIH1 gene polymorphisms with dilated cardiomyopathy in a chinese population. Immunol Invest 2014, 43:627-637.
20. Nejentsev S., Walker N., Riches D., Egholm M., Todd J.A. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009, 324:387-389.
21. Ferreira R.C., Pan-Hammarstrom Q., Graham R.R., Gateva V., Fontan G., Lee A.T., Ortmann W., Urcelay E., Fernandez-Arquero M., Nunez C., Jorgensen G., et al. Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. Nat Genet 2010, 42:777-780.
22. Ferreira R.C., Guo H., Coulson R.M., Smyth D.J., Pekalski M.L., Burren O.S., Cutler A.J., Doecke J.D., Flint S., McKinney E.F., Lyons P.A., et al. A type I interferon transcriptional signature precedes autoimmunity in children genetically at risk for type 1 diabetes. Diabetes 2014, 63:2538-2550.
23. Zouk H., Marchand L., Li Q., Polychronakos C. Functional characterization of the Thr946Ala SNP at the type 1 diabetes IFIH1 locus. Autoimmunity 2014, 47:40-45.
24. Jaidane H., Hober D. Role of coxsackievirus B4 in the pathogenesis of type 1 diabetes. Diabetes Metab 2008, 34(Pt 1):537-548.
25. Nakashima R., Imura Y., Kobayashi S., Yukawa N., Yoshifuji H., Nojima T., Kawabata D., Ohmura K., Usui T., Fujii T., Okawa K., et al. The RIG-I-like receptor IFIH1/MDA5 is a dermatomyositis-specific autoantigen identified by the anti-CADM-140 antibody. Rheumatology 2010, 49:433-440.
26. Sato S., Hoshino K., Satoh T., Fujita T., Kawakami Y., Kuwana M. RNA helicase encoded by melanoma differentiation-associated gene 5 is a major autoantigen in patients with clinically amyopathic dermatomyositis: association with rapidly progressive interstitial lung disease. Arthritis Rheum 2009, 60:2193-2200.
27. Funabiki M., Kato H., Miyachi Y., Toki H., Motegi H., Inoue M., Minowa O., Yoshida A., Deguchi K., Sato H., Ito S., et al. Autoimmune disorders associated with gain of function of the intracellular sensor MDA5. Immunity 2014, 40:199-212.
28. Oda H., Nakagawa K., Abe J., Awaya T., Funabiki M., Hijikata A., Nishikomori R., Funatsuka M., Ohshima Y., Sugawara Y., Yasumi T., et al. Aicardi-Goutieres syndrome is caused by IFIH1 mutations. Am J Hum Genet 2014, 95:121-125.
29. Rice G.I., del Toro Duany Y., Jenkinson E.M., Forte G.M., Anderson B.H., Ariaudo G., Bader-Meunier B., Baildam E.M., Battini R., Beresford M.W., Casarano M., et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet 2014, 46:503-509.
30. Van Eyck L., De Somer L., Pombal D., Bornschein S., Frans G., Humblet-Baron S., Moens L., de Zegher F., Bossuyt X., Wouters C., Liston A. Brief report: IFIH1 mutation causes systemic lupus erythematosus with selective IgA deficiency. Arthritis Rheumatol 2015, 67:1592-1597.
31. Rutsch F., MacDougall M., Lu C., Buers I., Mamaeva O., Nitschke Y., Rice G.I., Erlandsen H., Kehl H.G., Thiele H., Nurnberg P., et al. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet 2015, 96:275-282.
32. Jang M.A., Kim E.K., Now H., Nguyen N.T., Kim W.J., Yoo J.Y., Lee J., Jeong Y.M., Kim C.H., Kim O.H., Sohn S. Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. Am J Hum Genet 2015, 96:266-274.
33. Crow Y.J., Rehwinkel J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet 2009, 18:R130-R136.
34. Bursztejn A.C., Briggs T.A., Del Toro Duany Y., Anderson B.H., O'Sullivan J., Williams S.G., Bodemer C., Fraitag S., Gebhard F., Leheup B., Lemelle I., et al. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: Aicardi-Goutieres-Singleton-Merten overlapping syndrome. Br J Dermatol 2015.
35. Crow Y.J., Massey R.F., Innes J.R., Pairaudeau P.W., Rowland Hill C.A., Woods C.G., Ali M., Livingston J.H., Lebon P., Nischall K., McEntagart M., et al. Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutieres syndrome. Am J Med Genet A 2004, 129:303-307.
36. Dale R.C., Tang S.P., Heckmatt J.Z., Tatnall F.M. Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics 2000, 31:155-158.
37. Takeda K., Akira S. Toll-like receptors. Curr Protoc Immunol 2015, 109. 14.12.1-14.12.10.
38. Cai X., Chiu Y.H., Chen Z.J. The cGAS-cGAMP-STING pathway of cytosolic DNA sensing and signaling. Mol Cell 2014, 54:289-296.
39. Jakobsen M.R., Paludan S.R. IFI16: at the interphase between innate DNA sensing and genome regulation. Cytokine Growth Factor Rev 2014, 25:649-655.
40. Liddicoat B.J., Piskol R., Chalk A.M., Ramaswami G., Higuchi M., Hartner J.C., Li J.B., Seeburg P.H., Walkley C.R. RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself. Science 2015.
41. Mohan C., Putterman C. Genetics and pathogenesis of systemic lupus erythematosus and lupus nephritis. Nat Rev Nephrol 2015, 11:329-341.
42. Deane J.A., Pisitkun P., Barrett R.S., Feigenbaum L., Town T., Ward J.M., Flavell R.A., Bolland S. Control of toll-like receptor 7 expression is essential to restrict autoimmunity and dendritic cell proliferation. Immunity 2007, 27:801-810.
43. Pisitkun P., Deane J.A., Difilippantonio M.J., Tarasenko T., Satterthwaite A.B., Bolland S. Autoreactive B cell responses to RNA-related antigens due to TLR7 gene duplication. Science 2006, 312:1669-1672.
44. Napirei M., Karsunky H., Zevnik B., Stephan H., Mannherz H.G., Moroy T. Features of systemic lupus erythematosus in Dnase1-deficient mice. Nat Genet 2000, 25:177-181.
45. Robinson T., Kariuki S.N., Franek B.S., Kumabe M., Kumar A.A., Badaracco M., Mikolaitis R.A., Guerrero G., Utset T.O., Drevlow B.E., Zaacks L.S., et al. Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-alpha and serologic autoimmunity in lupus patients. J Immunol 2011, 187:1298-1303.
46. Cunninghame Graham D.S., Morris D.L., Bhangale T.R., Criswell L.A., Syvanen A.C., Ronnblom L., Behrens T.W., Graham R.R., Vyse T.J. Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. PLoS Genet 2011, 7:e1002341.
47. Crampton S.P., Deane J.A., Feigenbaum L., Bolland S. IFIH1 gene dose effect reveals MDA5-mediated chronic type I IFN gene signature, viral resistance, and accelerated autoimmunity. J Immunol 2012, 188:1451-1459.