| First Author | Rivera-Munoz P | Year | 2016 |
| Journal | Gene Ther | Volume | 23 |
| Issue | 2 | Pages | 176-86 |
| PubMed ID | 26361272 | Mgi Jnum | J:371088 |
| Mgi Id | MGI:8238241 | Doi | 10.1038/gt.2015.95 |
| Citation | Rivera-Munoz P, et al. (2016) Lymphopoiesis in transgenic mice over-expressing Artemis. Gene Ther 23(2):176-86 |
| abstractText | Artemis is a factor of the non-homologous end joining pathway involved in DNA double-strand break repair that has a critical role in V(D)J recombination. Mutations in DCLRE1C/ARTEMIS gene result in radiosensitive severe combined immunodeficiency in humans owing to a lack of mature T and B cells. Given the known drawbacks of allogeneic hematopoietic stem cell transplantation (HSCT), gene therapy appears as a promising alternative for these patients. However, the safety of an unregulated expression of Artemis has to be established. We developed a transgenic mouse model expressing human Artemis under the control of the strong CMV early enhancer/chicken beta actin promoter through knock-in at the ROSA26 locus to analyze this issue. Transgenic mice present a normal development, maturation and function of T and B cells with no signs of lymphopoietic malignancies for up to 15 months. These results suggest that the over-expression of Artemis in mice (up to 40 times) has no deleterious effects in early and mature lymphoid cells and support the safety of gene therapy as a possible curative treatment for Artemis-deficient patients. |
