EQUINE SEVERE COMBINED IMMUNODEFICIENCY - A DEFECT IN V(D)J RECOMBINATION AND DNA-DEPENDENT PROTEIN-KINASE ACTIVITY
EQUINE SEVERE COMBINED IMMUNODEFICIENCY - A DEFECT IN V(D)J RECOMBINATION AND DNA-DEPENDENT PROTEIN-KINASE ACTIVITY
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DOI：
10.1073/pnas.92.25.11485
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发表时间：
1995-12-05
影响因子：
11.1
通讯作者：
MEEK, K
中科院分区：
文献类型：
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作者：
WILER, R;LEBER, R;MEEK, K
V（D）J重排是产生几乎无限阵列的特异性免疫受体的分子机制。该过程的缺陷导致严重的免疫缺陷，如在C.B-17 SCID小鼠或RAG-1（重组激活基因1）或RAG-2缺陷小鼠中的情况。最近已经清楚的是，V（D）J重组酶最有可能由淋巴特异性因子和DNA双链断裂修复途径的普遍表达组分组成。SCID小鼠中的缺陷是这两种途径所需的因子。在这份报告中，我们表明，阿拉伯马驹的常染色体隐性遗传严重联合免疫缺陷的因子缺陷所需的（i）V（D）J重组，（ii）抗电离辐射，和（iii）DNA依赖性蛋白激酶活性。
V(D)J rearrangement is the molecular mechanism by which an almost infinite array of specific immune receptors are generated. Defects in this process result in profound immunodeficiency as is the case in the C.B-17 SCID mouse or in RAG-1 (recombination-activating gene 1) or RAG-2 deficient mice. It has recently become clear that the V(D)J recombinase most likely consists of both lymphoid-specific factors and ubiquitously expressed components of the DNA double-strand break repair pathway. The deficit in SCID mice is in a factor that is required for both of these pathways. In this report, we show that the factor defective in the autosomal recessive severe combined immunodeficiency of Arabian foals is required for (i) V(D)J recombination, (ii) resistance to ionizing radiation, and (iii) DNA-dependent protein kinase activity.