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| Item Type: | Article |
|---|---|
| Title: | Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus |
| Creators Name: | Lee-Kirsch, M.A., Gong, M., Chowdhury, D., Senenko, L., Engel, K., Lee, Y.A., de Silva, U., Bailey, S.L., Witte, T., Vyse, T.J., Kere, J., Pfeiffer, C., Harvey, S., Wong, A., Koskenmies, S., Hummel, O., Rohde, K., Schmidt, R.E., Dominiczak, A.F., Gahr, M., Hollis, T., Perrino, F.W., Lieberman, J. and Huebner, N. |
| 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. |
| 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 |
| Source: | Nature Genetics |
| ISSN: | 1061-4036 |
| Publisher: | Nature Publishing Group |
| Volume: | 39 |
| Number: | 9 |
| Page Range: | 1065-1067 |
| Date: | September 2007 |
| Additional Information: | The original publication is available at www.sciencedirect.com |
| Official Publication: | https://doi.org/10.1038/ng2091 |
| PubMed: | View item in PubMed |
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