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 journalArticle

415 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)313-314
Number of pages2
JournalNature genetics
Volume28
Issue number4
DOIs
Publication statusPublished - 2001

All Science Journal Classification (ASJC) codes

  • Genetics

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    Yasutomo, K., Horiuchi, T., Kagami, S., Tsukamoto, H., Hashimura, C., Urushihara, M., & Kuroda, Y. (2001). Mutation of DNASE1 in people with systemic lupus erythematosus. Nature genetics, 28(4), 313-314. https://doi.org/10.1038/91070