Kirch S A, Sudarsanam P, Oettinger M A
Department of Biochemistry and Molecular Biology, Harvard University, Cambridge, USA.
Eur J Immunol. 1996 Apr;26(4):886-91. doi: 10.1002/eji.1830260425.
The products of the recombination activating genes RAG1 and RAG2 are essential for activating V(D)J recombination, and thus are indispensable for the production of functional and diverse antigen receptors. To investigate the function of RAG1, we have tested a series of insertion and substitution mutation for their ability to induce V(D)J rearrangement on both deletional and inversional plasmid substrates. With these substrates we were also able to assess the effects of these mutations on both coding and signal joint formation, and to show that any one mutant affected all these reactions similarly. As defined previously, the core active regions of RAG1 and RAG2 permit the deletion of 40% and 25%, respectively, of well-conversed sequence. We show here that this "dispensable" region of RAG1 is not necessary for coding joint formation or recombination of an integrated substrate, and this portion is not functionally redundant with the "dispensable" region of RAG2. Recombination with these core regions is also still subject to the 12/23 joining rule. Further, the minimal essential core region of RAG1 can be located within an even smaller portion of the gene.
重组激活基因RAG1和RAG2的产物对于激活V(D)J重组至关重要,因此对于功能性和多样化抗原受体的产生不可或缺。为了研究RAG1的功能,我们测试了一系列插入和取代突变体在缺失型和倒转型质粒底物上诱导V(D)J重排的能力。利用这些底物,我们还能够评估这些突变对编码连接和信号连接形成的影响,并表明任何一个突变体对所有这些反应的影响相似。如先前所定义,RAG1和RAG2的核心活性区域分别允许删除40%和25%的保守序列。我们在此表明,RAG1的这个“可缺失”区域对于编码连接形成或整合底物的重组并非必需,并且该部分与RAG2的“可缺失 ”区域在功能上并非冗余。与这些核心区域的重组仍遵循12/23连接规则。此外,RAG1的最小必需核心区域可位于该基因的更小部分内。