Features of systemic lupus erythematosus in Dnase1-deficient mice

Nat Genet. 2000 Jun;25(2):177-81. doi: 10.1038/76032.

Abstract

Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease that affects over one million people in the United States. SLE is characterized by the presence of anti-nuclear antibodies (ANA) directed against naked DNA and entire nucleosomes. It is thought that the resulting immune complexes accumulate in vessel walls, glomeruli and joints and cause a hypersensitivity reaction type III, which manifests as glomerulonephritis, arthritis and general vasculitis. The aetiology of SLE is unknown, but several studies suggest that increased liberation or disturbed clearance of nuclear DNA-protein complexes after cell death may initiate and propagate the disease. Consequently, Dnase1, which is the major nuclease present in serum, urine and secreta, may be responsible for the removal of DNA from nuclear antigens at sites of high cell turnover and thus for the prevention of SLE (refs 7-11). To test this hypothesis, we have generated Dnase1-deficient mice by gene targeting. We report here that these animals show the classical symptoms of SLE, namely the presence of ANA, the deposition of immune complexes in glomeruli and full-blown glomerulonephritis in a Dnase1-dose-dependent manner. Moreover, in agreement with earlier reports, we found Dnase1 activities in serum to be lower in SLE patients than in normal subjects. Our findings suggest that lack or reduction of Dnase1 is a critical factor in the initiation of human SLE.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3T3 Cells
  • Animals
  • Antibodies, Antinuclear / immunology
  • Autoantigens / immunology
  • DNA / immunology
  • DNA / metabolism
  • Deoxyribonuclease I / blood
  • Deoxyribonuclease I / deficiency*
  • Deoxyribonuclease I / genetics
  • Deoxyribonuclease I / metabolism*
  • Female
  • Gene Deletion*
  • Genotype
  • Histones / immunology
  • Humans
  • Kidney Diseases / blood
  • Kidney Diseases / enzymology
  • Lupus Erythematosus, Systemic / enzymology*
  • Lupus Erythematosus, Systemic / genetics
  • Lupus Erythematosus, Systemic / immunology
  • Lupus Erythematosus, Systemic / pathology
  • Lupus Nephritis / enzymology
  • Lupus Nephritis / genetics
  • Lupus Nephritis / immunology
  • Lupus Nephritis / pathology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Models, Biological
  • Nucleosomes / immunology
  • Proteinuria / blood
  • Proteinuria / enzymology
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Ribonucleoproteins, Small Nuclear*
  • snRNP Core Proteins

Substances

  • Antibodies, Antinuclear
  • Autoantigens
  • Histones
  • Nucleosomes
  • RNA, Messenger
  • Ribonucleoproteins, Small Nuclear
  • snRNP Core Proteins
  • DNA
  • Deoxyribonuclease I