Mutation of DNASE1 in people with systemic lupus erythematosus

Koji Yasutomo, Takahiko Horiuchi, Shoji Kagami, Hiroshi Tsukamoto, Chinami Hashimura, Maki Urushihara, Yasuhiro Kuroda

Research output: Contribution to journalArticlepeer-review

493 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)313-314
Number of pages2
JournalNature genetics
Issue number4
Publication statusPublished - 2001

All Science Journal Classification (ASJC) codes

  • Genetics


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