Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

Abstract

Genome integrity is continuously challenged by the DNA damage that arises during normal cell metabolism. Biallelic mutations in the genes encoding the genome surveillance enzyme ribonuclease H2 (RNase H2) cause Aicardi-Goutières syndrome (AGS), a pediatric disorder that shares features with the autoimmune disease systemic lupus erythematosus (SLE). Here we determined that heterozygous parents of AGS patients exhibit an intermediate autoimmune phenotype and demonstrated a genetic association between rare RNASEH2 sequence variants and SLE. Evaluation of patient cells revealed that SLE- and AGS-associated mutations impair RNase H2 function and result in accumulation of ribonucleotides in genomic DNA. The ensuing chronic low level of DNA damage triggered a DNA damage response characterized by constitutive p53 phosphorylation and senescence. Patient fibroblasts exhibited constitutive upregulation of IFN-stimulated genes and an enhanced type I IFN response to the immunostimulatory nucleic acid polyinosinic:polycytidylic acid and UV light irradiation, linking RNase H2 deficiency to potentiation of innate immune signaling. Moreover, UV-induced cyclobutane pyrimidine dimer formation was markedly enhanced in ribonucleotide-containing DNA, providing a mechanism for photosensitivity in RNase H2-associated SLE. Collectively, our findings implicate RNase H2 in the pathogenesis of SLE and suggest a role of DNA damage-associated pathways in the initiation of autoimmunity.

Details

OriginalspracheEnglisch
Seiten (von - bis)413-424
Seitenumfang12
FachzeitschriftJournal of Clinical Investigation
Jahrgang125
Ausgabenummer1
PublikationsstatusVeröffentlicht - Jan. 2015
Peer-Review-StatusJa

Externe IDs

researchoutputwizard legacy.publication#66417
PubMed 25500883
PubMedCentral PMC4382239
researchoutputwizard legacy.publication#66023
researchoutputwizard legacy.publication#60879
researchoutputwizard legacy.publication#66937
Scopus 84920413492
researchoutputwizard legacy.publication#67622
ORCID /0000-0001-7096-5199/work/152544269
ORCID /0000-0003-3486-2824/work/152544402
ORCID /0000-0002-4330-1861/work/152544349

Schlagworte

Schlagwörter

  • Autoimmunity/genetics, Cell Proliferation, Cells, Cultured, DNA Mutational Analysis, DNA Repair, Gene Expression, Heterozygote, Humans, Interferon Type I/genetics, Lupus Erythematosus, Systemic/genetics, Pyrimidine Dimers/genetics, Ribonuclease H/genetics