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- Title
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
- Authors
Min Ae Lee-Kirsch; 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.; Anna F.Dominiczak; Gahr, Manfred
- 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.
- Publication
Nature Genetics, 2007, Vol 39, Issue 9, p1065
- ISSN
1061-4036
- Publication type
Academic Journal
- DOI
10.1038/ng2091