Novel Spontaneous Deletion of Artemis Exons 10 and 11 in Mice Leads to T- and B-Cell Deficiency
| Autor: | Tomas Racek, Christian Barthels, Christoph Klein, Jacek Puchałka, Thomas Brocker |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Myeloid
DCLRE1C T-Lymphocytes lcsh:Medicine Biology Polymorphism Single Nucleotide Immunophenotyping Exon Mice Gene Order medicine Cytotoxic T cell Animals lcsh:Science Gene Sequence Deletion Severe combined immunodeficiency B-Lymphocytes Multidisciplinary Base Sequence lcsh:R Nuclear Proteins Exons medicine.disease Endonucleases Phenotype Molecular biology medicine.anatomical_structure lcsh:Q Severe Combined Immunodeficiency Research Article |
| Zdroj: | PLoS ONE PLoS ONE, Vol 8, Iss 9, p e74838 (2013) |
| ISSN: | 1932-6203 |
| Popis: | Here we describe a novel, spontaneous, 4035 basepairs long deletion in the DNA cross-link repair 1C (Dclre1c)-locus in C57BL/6-mice, which leads to loss of exons 10 and 11 of the gene encoding for Artemis, a protein involved into V(D) J-recombination of antigen receptors of T and B cells. While several spontaneous mutations of Artemis have been described to cause SCID in humans, in mice, only targeted deletions by knockout technology are known to cause the same phenotype so far. The deletion we observed causes a loss of Artemis function in the C57BL/6 strain and, consequently, the absence of T and B cells, in presence of normal numbers of NK cells and cells of the myeloid lineage. Thus, for the first time we present T(-)B(-)NK(+) severe combined immunodeficiency (SCID) phenotype after spontaneously occurring modification of Artemis gene in mice. Our mouse model may serve as a valuable tool to study mechanisms as well as potential therapies of SCID in humans. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|