编码3'-5' DNA核酸外切酶TREX1的基因突变与系统性红斑狼疮相关。
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
作者信息
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
机构信息
Klinik für Kinder- und Jugendmedizin, Technische Universität Dresden, 01307 Dresden, Germany.
出版信息
Nat Genet. 2007 Sep;39(9):1065-7. doi: 10.1038/ng2091. Epub 2007 Jul 29.
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.
TREX1在颗粒酶A介导的细胞凋亡中与SET复合物协同发挥作用，TREX1的突变会导致Aicardi-Goutières综合征和家族性冻疮性狼疮。在此，我们报告了在417例系统性红斑狼疮患者中有9例存在TREX1的单等位基因移码或错义突变以及1个3'UTR变异体，而在1712名对照者中未发现（P = 4.1×10⁻⁷）。我们证明两个突变的TREX1等位基因改变了亚细胞定位。我们的研究结果表明TREX1参与了系统性红斑狼疮的发病机制。
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