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. 2007 Sep;39(9):1065-7.
doi: 10.1038/ng2091. Epub 2007 Jul 29.

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

Min Ae Lee-Kirsch  1 , Maolian Gong, Dipanjan Chowdhury, Lydia Senenko, Kerstin Engel, Young-Ae Lee, Udesh de Silva, Suzanna L Bailey, Torsten Witte, Timothy J Vyse, Juha Kere, Christiane Pfeiffer, Scott Harvey, Andrew Wong, Sari Koskenmies, Oliver Hummel, Klaus Rohde, Reinhold E Schmidt, Anna F Dominiczak, Manfred Gahr, Thomas Hollis, Fred W Perrino, Judy Lieberman, Norbert Hübner
Affiliations

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

Min Ae Lee-Kirsch et al. Nat Genet. 2007 Sep.

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.

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