Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus
Top Cited Papers
- 29 July 2007
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 39 (9) , 1065-1067
- https://doi.org/10.1038/ng2091
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.Keywords
This publication has 15 references indexed in Scilit:
- Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières SyndromeAmerican Journal of Human Genetics, 2007
- The Crystal Structure of TREX1 Explains the 3′ Nucleotide Specificity and Reveals a Polyproline II Helix for Protein PartneringJournal of Biological Chemistry, 2007
- Chronic polyarthritis caused by mammalian DNA that escapes from degradation in macrophagesNature, 2006
- Promyelocytic leukemia nuclear bodies are predetermined processing sites for damaged DNAJournal of Cell Science, 2006
- Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusNature Genetics, 2006
- The Exonuclease TREX1 Is in the SET Complex and Acts in Concert with NM23-H1 to Degrade DNA during Granzyme A-Mediated Cell DeathMolecular Cell, 2006
- Recognition of Cytosolic DNA Activates an IRF3-Dependent Innate Immune ResponseImmunity, 2006
- Gene-Targeted Mice Lacking the Trex1 (DNase III) 3′→5′ DNA Exonuclease Develop Inflammatory MyocarditisMolecular and Cellular Biology, 2004
- Identification and Expression of the TREX1 and TREX2 cDNA Sequences Encoding Mammalian 3′→5′ ExonucleasesJournal of Biological Chemistry, 1999
- Demographic history and linkage disequilibrium in human populationsNature Genetics, 1997