The scid gene encodes a trans-acting factor that mediates the rejoining event of Ig gene rearrangement.
The scid gene encodes a trans-acting factor that mediates the rejoining event of Ig gene rearrangement.
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scid 基因编码介导 Ig 基因重排重新连接事件的反式作用因子。
DOI：
10.1101/gad.2.7.817
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发表时间：
1988
影响因子：
10.5
通讯作者：
Weaver,DT
中科院分区：
文献类型：
--
作者：
Hendrickson,EA;Schatz,DG;Weaver,DT
小鼠scid基因座的纯合突变损害淋巴发育，导致动物缺乏B和T细胞。我们发现，免疫球蛋白重链基因重排在Abelson转化的scid pre-B细胞系的D-JH阶段被阻断。重组连接的检查表明，正确的基因元件（D和JH）组装，如从scid细胞系基因组克隆的断点限制性片段上存在D区和JH区DNA所示。所有重排事件均伴有不同大小的缺失，使得重排均不导致功能性免疫球蛋白的产生。重排事件的断点不对应于利用一种新的七聚体-九聚体重组信号，但可能是由重组过程中远端JH和D七聚体-九聚体信号的非特异性缺失引起的。用含有IG连接信号的重组逆转录病毒（DGR）感染scid pre-B细胞系。在DGR DNA中观察到异常重排，DGR DNA在小鼠基因组中随机整合，这表明scid小鼠中的突变编码一种反式作用因子，该因子是淋巴基因重组机制的一部分。
Homozygous mutation at the scid locus in the mouse impairs lymphoid development and results in animals deficient in B and T cells. We found that immunoglobulin heavy-chain gene rearrangement was blocked at the D-JH stage in Abelson-transformed scid pre-B cell lines. Examination of the recombinational junctions indicated that the correct gene elements (D and JH) were assembled, as shown by the presence of D region and JH-region DNA on the breakpoint restriction fragments cloned from the genome of the scid cell lines. All rearrangement events were accompanied by deletions of varying sizes such that none of the rearrangements resulted in the production of functional immunoglobulins. The breakpoints of the rearrangement events did not correspond to the utilization of a novel heptamer-nonamer recombination signal but probably arose by nonspecific deletion from distal JH and D heptamer-nonamer signals in the process of recombination. scid pre-B cell lines were infected with a recombinant retrovirus (DGR) containing Ig joining signals. Aberrant rearrangements were observed in DGR DNA that was integrated randomly throughout the mouse genome, which suggested that the mutation in scid mice encodes a trans-acting factor that is part of the lymphoid gene recombination machinery.