Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus
MA Lee-Kirsch, M Gong, D Chowdhury, L Senenko… - Nature …, 2007 - nature.com
MA Lee-Kirsch, M Gong, D Chowdhury, L Senenko, K Engel, YA Lee, U de Silva, SL Bailey…
Nature genetics, 2007•nature.comTREX1 acts in concert with the SET complex in granzyme A–mediated apoptosis, and
mutations in TREX1 cause Aicardi-Goutières syndrome and familial chilblain lupus. Here,
we report monoallelic frameshift or missense mutations and one 3′ UTR variant of TREX1
present in 9/417 individuals with systemic lupus erythematosus but absent in 1,712 controls
(P= 4.1× 10− 7). We demonstrate that two mutant TREX1 alleles alter subcellular targeting.
Our findings implicate TREX1 in the pathogenesis of SLE.
mutations in TREX1 cause Aicardi-Goutières syndrome and familial chilblain lupus. Here,
we report monoallelic frameshift or missense mutations and one 3′ UTR variant of TREX1
present in 9/417 individuals with systemic lupus erythematosus but absent in 1,712 controls
(P= 4.1× 10− 7). We demonstrate that two mutant TREX1 alleles alter subcellular targeting.
Our findings implicate TREX1 in the pathogenesis of SLE.
Abstract
TREX1 acts in concert with the SET complex in granzyme A–mediated apoptosis, and mutations in TREX1 cause Aicardi-Goutières syndrome and familial chilblain lupus. Here, we report monoallelic frameshift or missense mutations and one 3′ UTR variant of TREX1 present in 9/417 individuals with systemic lupus erythematosus but absent in 1,712 controls (P = 4.1 × 10−7). We demonstrate that two mutant TREX1 alleles alter subcellular targeting. Our findings implicate TREX1 in the pathogenesis of SLE.
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