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E-GEOD-59233 - Impaired DNA damage metabolism promotes autoimmunity in TREX1 deficiency 

Released on 30 May 2016, last updated on 5 June 2016
Homo sapiens
Samples (10)
Protocols (3)
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. Comparison of transcriptional profiles of unstressed patient fibroblasts with wild type cells as well as fibroblasts exposed to oxidative stress
Experiment type
RNA-seq of coding RNA 
Min Ae Lee-Kirsch <>, Alexander Rapp, Andreas Dahl, Christine Wolf, Claudia Günther, Claudia Krug, Dagmar Wieczorek, Dimitra Alexopoulou, M C Cardoso, Manuela Dobrick-Mattheuer, Min A Lee-Kirsch, Nicole Berndt, Stefanie Kretschmer, Thomas Kurth
RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA. Wolf C, Rapp A, Berndt N, Staroske W, Schuster M, Dobrick-Mattheuer M, Kretschmer S, K�nig N, Kurth T, Wieczorek D, Kast K, Cardoso MC, G�nther C, Lee-Kirsch MA. , PMID:27230542
Exp. designProtocolsVariablesProcessedSeq. reads
Investigation descriptionE-GEOD-59233.idf.txt
Sample and data relationshipE-GEOD-59233.sdrf.txt
Additional data (1)