Constitutive low level DNA damage is linked to innate immune activation. Hierarchical clustering of over 9000 transcripts revealed remarkably similar profiles in a patient with lupus erythematosus and a patient with AGS with up-regulation of genes involved in DNA damage signaling, p53-inducible genes, senescence-associated genes as well as  up-regulation of interferon-stimulated genes. Transcriptional profiling of fibroblasts exposed to oxidative stress showed a marked up-regulation of genes involved in DNA replication/repair and replication licensing in TREX1-deficient cells compared to wild type cells suggesting massive replication stress. SOURCE: Min Ae Lee-Kirsch (MinAe.Lee-Kirsch@uniklinikum-dresden.de) - Molekulare Pädiatrie Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden

Pluto Bioinformatics

GSE59233: Impaired DNA damage metabolism promotes autoimmunity in TREX1 deficiency