Nature Genetics
28, 313 - 314 (2001)
doi:10.1038/91070
Mutation of DNASE1 in people with systemic lupus erythematosusKoji Yasutomo1, Takahiko Horiuchi2, Shoji Kagami1, Hiroshi Tsukamoto2, Chinami Hashimura2, Maki Urushihara1
& Yasuhiro Kuroda11
Department of Pediatrics, School of Medicine, University of Tokushima, Tokushima 770-8503, Japan. 2
First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka 812-8582, Japan.
Correspondence should be addressed to Koji Yasutomo yasutomo@clin.med.tokushima-u.ac.jpSystemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash1,
2. Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome3. 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.
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