Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

Journal of Allergy and Clinical Immunology - Tập 140 - Trang 543-552.e5 - 2017
Isabelle Melki1,2,3,4, Yoann Rose1,2, Carolina Uggenti1,2, Lien Van Eyck1,2,5, Marie-Louise Frémond1,2,4, Naoki Kitabayashi1,2, Gillian I. Rice6, Emma M. Jenkinson6, Anaïs Boulai1,2, Nadia Jeremiah2,7, Marco Gattorno8, Sefano Volpi8, Olivero Sacco9, Suzanne W.J. Terheggen-Lagro10, Harm A.W.M. Tiddens11,12, Isabelle Meyts13,5, Marie-Anne Morren14, Petra De Haes5,14, Carine Wouters4,13,5, Eric Legius15,16
1INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France
2Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France
3General Pediatrics, Infectious Disease and Internal Medicine Department, Hôpital Robert Debré, AP-HP, Paris, France
4Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
5Department of Immunology and Microbiology, Childhood Immunology, University of Leuven, Leuven, Belgium
6Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom
7INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmunity, Paris, France
8UO Pediatria 2 Reumatologia, G. Gaslini, Genova, Italy
9UO Pneumologia, G. Gaslini, Genova, Italy
10Department of Paediatric, Pulmonology Emma Children's Hospital AMC DD, Amsterdam, The Netherlands
11Department of Radiology, Erasmus Medical Center, Rotterdam, The Netherlands
12Department of Paediatrics, Respiratory Medicine and Allergology, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands
13Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium
14Department of Dermatology, University Hospitals Leuven, Leuven, Belgium
15Department of Human Genetics, KU Leuven, Leuven, Belgium
16Clinical Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium

Tài liệu tham khảo

Liu, 2014, Activated STING in a vascular and pulmonary syndrome, N Engl J Med, 371, 507, 10.1056/NEJMoa1312625 Jeremiah, 2014, Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations, J Clin Invest, 124, 5516, 10.1172/JCI79100 Munoz, 2015, Stimulator of interferon genes-associated vasculopathy with onset in infancy: a mimic of childhood granulomatosis with polyangiitis, JAMA Dermatol, 151, 872, 10.1001/jamadermatol.2015.0251 Omoyinmi, 2015, Stimulator of interferon genes-associated vasculitis of infancy, Arthritis Rheumatol, 67, 808, 10.1002/art.38998 Frémond, 2016, Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in three children, J Allergy Clin Immunol, 138, 1752, 10.1016/j.jaci.2016.07.015 König, 2016, Familial chilblain lupus due to a gain-of-function mutation in STING, Ann Rheum Dis Picard, 2016, Severe pulmonary fibrosis as the first manifestation of interferonopathy (TMEM173 mutation), Chest, 150, e65, 10.1016/j.chest.2016.02.682 Clarke, 2016, Interstitial lung disease caused by STING-associated vasculopathy with onset in infancy, Am J Respir Crit Care Med, 194, 639, 10.1164/rccm.201510-2102LE Crow, 2011, Type I interferonopathies: a novel set of inborn errors of immunity, Ann N Y Acad Sci, 1238, 91, 10.1111/j.1749-6632.2011.06220.x Crow, 2014, STING-associated vasculopathy with onset in infancy–a new interferonopathy, N Engl J Med, 371, 568, 10.1056/NEJMe1407246 Ishikawa, 2008, STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling, Nature, 455, 674, 10.1038/nature07317 Burdette, 2011, STING is a direct innate immune sensor of cyclic di-GMP, Nature, 478, 515, 10.1038/nature10429 Barber, 2015, STING: infection, inflammation and cancer, Nat Rev Immunol, 15, 760, 10.1038/nri3921 Zhang, 2013, Cyclic GMP-AMP containing mixed phosphodiester linkages is an endogenous high-affinity ligand for STING, Mol Cell, 51, 226, 10.1016/j.molcel.2013.05.022 Dobbs, 2015, STING activation by translocation from the ER is associated with infection and autoinflammatory disease, Cell Host Microbe, 18, 157, 10.1016/j.chom.2015.07.001 Liu, 2015, Phosphorylation of innate immune adaptor proteins MAVS, STING, and TRIF induces IRF3 activation, Science, 347, aaa2630, 10.1126/science.aaa2630 Lek, 2016, Analysis of protein-coding genetic variation in 60,706 humans, Nature, 536, 285, 10.1038/nature19057 Gentili, 2015, Transmission of innate immune signaling by packaging of cGAMP in viral particles, Science, 349, 1232, 10.1126/science.aab3628 Yi, 2013, Single nucleotide polymorphisms of human STING can affect innate immune response to cyclic dinucleotides, PLoS One, 8, e77846, 10.1371/journal.pone.0077846 Katoh, 2013, MAFFT multiple sequence alignment software version 7: improvements in performance and usability, Mol Biol Evol, 30, 772, 10.1093/molbev/mst010 Robert, 2014, Deciphering key features in protein structures with the new ENDscript server, Nucleic Acids Res, 42, W320, 10.1093/nar/gku316 Ouyang, 2012, Structural analysis of the STING adaptor protein reveals a hydrophobic dimer interface and mode of cyclic di-GMP binding, Immunity, 36, 1073, 10.1016/j.immuni.2012.03.019 Konno, 2013, Cyclic dinucleotides triggerULK1(ATG1) phosphorylation of STING to prevent sustained innate immune signaling, Cell, 155, 688, 10.1016/j.cell.2013.09.049 Holm, 2012, Virus-cell fusion as a trigger of innate immunity dependent on the adaptor STING, Nat Immunol, 13, 737, 10.1038/ni.2350 Olagnier, 2012, Breaking the barrier: membrane fusion triggers innate antiviral immunity, Nat Immunol, 13, 713, 10.1038/ni.2373 Holm, 2016, Influenza A virus targets a cGAS-independent STING pathway that controls enveloped RNA viruses, Nat Commun, 7, 10680, 10.1038/ncomms10680 Tanaka, 2012, STING specifies IRF3 phosphorylation by TBK1 in the cytosolic DNA signaling pathway, Sci Signal, 5, ra20, 10.1126/scisignal.2002521 Tang, 2015, Single amino acid change in STING leads to constitutive active signaling, PLoS One, 10, e0120090, 10.1371/journal.pone.0120090 Shu, 2012, Structure of STING bound to cyclic di-GMP reveals the mechanism of cyclic dinucleotide recognition by the immune system, Nat Struct Mol Biol, 19, 722, 10.1038/nsmb.2331 Mukai, 2016, Activation of STING requires palmitoylation at the Golgi, Nat Commun, 7, 11932, 10.1038/ncomms11932 Hasan, 2015, Cutting edge: inhibiting TBK1 by compound II ameliorates autoimmune disease in mice, J Immunol, 195, 4573, 10.4049/jimmunol.1500162 Hasan, 2016, Therapeutic potential of targeting TBK1 in autoimmune diseases and interferonopathies, Pharmacol Res, 111, 336, 10.1016/j.phrs.2016.04.008 Shigemoto, 2009, Identification of loss of function mutations in human genes encoding RIG-I and MDA5: implications for resistance to type I diabetes, J Biol Chem, 284, 13348, 10.1074/jbc.M809449200