Mutation of DNASE1 in people with systemic lupus erythematosus

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

doi:10.1038/91070

Mutation of DNASE1 in people with systemic lupus erythematosus

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

Internal Medicine

Research output: Contribution to journal › Article › peer-review

493 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 language	English
Pages (from-to)	313-314
Number of pages	2
Journal	Nature genetics
Volume	28
Issue number	4
DOIs	https://doi.org/10.1038/91070
Publication status	Published - 2001

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Genetics

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10.1038/91070

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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.",

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AU - Yasutomo, Koji

AU - Horiuchi, Takahiko

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AU - Hashimura, Chinami

AU - Urushihara, Maki

AU - Kuroda, Yasuhiro

PY - 2001

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N2 - 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.

AB - 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.

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Mutation of DNASE1 in people with systemic lupus erythematosus

Abstract

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