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1: Nat Genet. 2001 Aug;28(4):313-4.Click here to read Links

Mutation of DNASE1 in people with systemic lupus erythematosus.

Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M, Kuroda Y.

Department of Pediatrics, School of Medicine, University of Tokushima, Tokushima 770-8503, Japan. yasutomo@clin.med.tokushima-u.ac.jp

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.

PMID: 11479590 [PubMed - indexed for MEDLINE]