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  • cGAS-mediated induction of ...
    Uggenti, Carolina; Lepelley, Alice; Depp, Marine; Badrock, Andrew P; Rodero, Mathieu P; El-Daher, Marie-Thérèse; Rice, Gillian I; Dhir, Somdutta; Wheeler, Ann P; Dhir, Ashish; Albawardi, Waad; Frémond, Marie-Louise; Seabra, Luis; Doig, Jennifer; Blair, Natalie; Martin-Niclos, Maria José; Della Mina, Erika; Rubio-Roldán, Alejandro; García-Pérez, Jose L; Sproul, Duncan; Rehwinkel, Jan; Hertzog, Jonny; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Baruteau, Julien; Brochard, Karine; Buckley, Jonathan; Cavallera, Vanessa; Cereda, Cristina; De Waele, Liesbeth M H; Dobbie, Angus; Doummar, Diane; Elmslie, Frances; Koch-Hogrebe, Margarete; Kumar, Ram; Lamb, Kate; Livingston, John H; Majumdar, Anirban; Lorenço, Charles Marques; Orcesi, Simona; Peudenier, Sylviane; Rostasy, Kevin; Salmon, Caroline A; Scott, Christiaan; Tonduti, Davide; Touati, Guy; Valente, Marialuisa; van der Linden, Jr, Hélio; Van Esch, Hilde; Vermelle, Marie; Webb, Kate; Jackson, Andrew P; Reijns, Martin A M; Gilbert, Nick; Crow, Yanick J

    Nature genetics, 12/2020, Volume: 52, Issue: 12
    Journal Article

    Inappropriate stimulation or defective negative regulation of the type I interferon response can lead to autoinflammation. In genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, we identified biallelic mutations in LSM11 and RNU7-1, which encode components of the replication-dependent histone pre-mRNA-processing complex. Mutations were associated with the misprocessing of canonical histone transcripts and a disturbance of linker histone stoichiometry. Additionally, we observed an altered distribution of nuclear cyclic guanosine monophosphate-adenosine monophosphate synthase (cGAS) and enhanced interferon signaling mediated by the cGAS-stimulator of interferon genes (STING) pathway in patient-derived fibroblasts. Finally, we established that chromatin without linker histone stimulates cyclic guanosine monophosphate-adenosine monophosphate (cGAMP) production in vitro more efficiently. We conclude that nuclear histones, as key constituents of chromatin, are essential in suppressing the immunogenicity of self-DNA.