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Nat Genet. 2007 Sep;39(9):1065-7. Epub 2007 Jul 29.

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

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  • 1Klinik für Kinder- und Jugendmedizin, Technische Universität Dresden, 01307 Dresden, Germany. minae.lee-kirsch@uniklinikum-dresden.de

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 x 10(-7)). We demonstrate that two mutant TREX1 alleles alter subcellular targeting. Our findings implicate TREX1 in the pathogenesis of SLE.

PMID:
17660818
[PubMed - indexed for MEDLINE]
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