Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus by Lee-Kirsch Min Ae, Gong Maolian, Chowdhury Dipanjan, Senenko Lydia, Engel Kerstin, Lee Young-Ae, de Silva Udesh, Bailey Suzanna L, Witte Torsten, Vyse Timothy J, Kere Juha, Pfeiffer Christiane, Harvey Scott, Wong Andrew, Koskenmies Sari, Hummel Oliver, Rohde Klaus, Schmidt Reinhold E, Dominiczak Anna F, Gahr Manfred, Hollis Thomas, Perrino Fred W, Lieberman Judy, Hübner Norbert in Nature genetics (2007).

[PMID: 17660818] PubMed


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.

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