Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency.
Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency.
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DOI：
10.1371/journal.pone.0074838
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Brocker T
中科院分区：
文献类型：
--
作者：
Barthels C;Puchałka J;Racek T;Klein C;Brocker T
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.
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影响因子：
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通讯作者：
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影响因子：
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通讯作者：
van Dongen, JJM
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3.6
作者：
Cossu F
通讯作者：
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