| First Author | Lee-Kirsch MA | Year | 2007 |
| Journal | Nat Genet | Volume | 39 |
| Issue | 9 | Pages | 1065-7 |
| PubMed ID | 17660818 | Mgi Jnum | J:125232 |
| Mgi Id | MGI:3757907 | Doi | 10.1038/ng2091 |
| Citation | Lee-Kirsch MA, et al. (2007) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 39(9):1065-7 |
| abstractText | TREX1 acts in concert with the SET complex in granzyme A-mediated apoptosis, and mutations in TREX1 cause Aicardi-Goutieres 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. |
