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- Title
Mutation of DNASE1 in people with systemic lupus erythematosus.
- Authors
Yasutomo, Koji; Horiuchi, Takahiko; Kagami, Shoji; Tsukamoto, Hiroshi; Hashimura, Chinami; Urushihara, Maki; Kuroda, Yasuhiro
- 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.
- Subjects
EXONS (Genetics); IMMUNOGLOBULIN G; SYSTEMIC lupus erythematosus
- Publication
Nature Genetics, 2001, Vol 28, Issue 4, p313
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/91070