title: Mutation of DNASE1 in people with systemic lupus erythematosus.
abstract: Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash. Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome. Here we describe two patients with a heterozygous nonsense mutation in exon 2 of DNASE1, decreased DNASE1 activity and an extremely high immunoglobulin G titer against nucleosomal antigens. These data are consistent with the hypothesis that a direct connection exists between low activity of DNASE1 and progression of human SLE.
authors.affiliation: Department of Pediatrics, School of Medicine, University of Tokushima, Tokushima 770-8503, Japan. yasutomo@clin.med.tokushima-u.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Yasutomo
authors.forename: T
authors.initials: T
authors.lastname: Horiuchi
authors.forename: S
authors.initials: S
authors.lastname: Kagami
authors.forename: H
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: C
authors.initials: C
authors.lastname: Hashimura
authors.forename: M
authors.initials: M
authors.lastname: Urushihara
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: D000293:Adolescent; D000483:Alleles; D000818:Animals; D000974:Antibodies, Antinuclear / Q000097:blood; D001323:Autoantibodies / Q000097:blood; D001402:B-Lymphocytes / Q000201:enzymology; D004252:DNA Mutational Analysis; D003850:Deoxyribonuclease I / Q000097:blood / Q000235:genetics*; D018450:Disease Progression; D004789:Enzyme Activation / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D051379:Mice; D009154:Mutation; D009707:Nucleosomes / Q000276:immunology; D011110:Polymorphism, Genetic; D012859:Sjogren's Syndrome / Q000097:blood / Q000150:complications / Q000175:diagnosis
chemical_list: D000974:Antibodies, Antinuclear; D001323:Autoantibodies; D007074:Immunoglobulin G; D009707:Nucleosomes; D003850:Deoxyribonuclease I