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

Official URL:https://doi.org/10.1038/ng2091
PubMed:View item in PubMed
Creators Name:Lee-Kirsch, M.A. and Gong, M. and Chowdhury, D. and Senenko, L. and Engel, K. and Lee, Y.A. and de Silva, U. and Bailey, S.L. and Witte, T. and Vyse, T.J. and Kere, J. and Pfeiffer, C. and Harvey, S. and Wong, A. and Koskenmies, S. and Hummel, O. and Rohde, K. and Schmidt, R.E. and Dominiczak, A.F. and Gahr, M. and Hollis, T. and Perrino, F.W. and Lieberman, J. and Huebner, N.
Journal Title:Nature Genetics
Journal Abbreviation:Nat Genet
Volume:39
Number:9
Page Range:1065-1067
Date:September 2007
Keywords:3' Untranslated Regions, Cutaneous Lupus Erythematosus, Endosomes, Exodeoxyribonucleases, Frameshift Mutation, Gene Frequency, Genetic Predisposition to Disease, Genotype, Green Fluorescent Proteins, HeLa Cells, Missense Mutation, Mutation, Phosphoproteins, Recombinant Proteins, Tertiary Protein Structure
Abstract: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.
ISSN:1061-4036
Publisher:Nature Publishing Group (U.S.A.)
Additional Information:The original publication is available at www.sciencedirect.com
Item Type:Article

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