Sheehan K M, Lieber M R
Department of Pathology, Stanford University School of Medicine, California 94305-5324.
Mol Cell Biol. 1993 Mar;13(3):1363-70. doi: 10.1128/mcb.13.3.1363-1370.1993.
V(D)J recombination in lymphoid cells is a site-specific process in which the activity of the recombinase enzyme is targeted to signal sequences flanking the coding elements of antigen receptor genes. The order of the steps in this reaction and their mechanistic interdependence are important to the understanding of how the reaction fails and thereby contributes to genomic instability in lymphoid cells. The products of the normal reaction are recombinant joints linking the coding sequences of the receptor genes and, reciprocally, the signal ends. Extrachromosomal substrate molecules were modified to inhibit the physical synapsis of the recombination signals. In this way, it has been possible to assess how inhibiting the formation of one joint affects the resolution efficiency of the other. Our results indicate that signal joint and coding joint formation are resolved independently in that they can be uncoupled from each other. We also find that signal synapsis is critical for the generation of recombinant products, which greatly restricts the degree of potential single-site cutting that might otherwise occur in the genome. Finally, inversion substrates manifest synaptic inhibition at much longer distances than do deletion substrates, suggesting that a parallel rather than an antiparallel alignment of the signals is required during synapsis. These observations are important for understanding the interaction of V(D)J signals with the recombinase. Moreover, the role of signal synapsis in regulating recombinase activity has significant implications for genome stability regarding the frequency of recombinase-mediated chromosomal translocations.
淋巴细胞中的V(D)J重组是一个位点特异性过程,其中重组酶的活性靶向于抗原受体基因编码元件两侧的信号序列。该反应中各步骤的顺序及其机制上的相互依赖性,对于理解反应如何失败从而导致淋巴细胞基因组不稳定至关重要。正常反应的产物是连接受体基因编码序列的重组接头,以及相应的信号末端。对染色体外底物分子进行修饰以抑制重组信号的物理联会。通过这种方式,得以评估抑制一个接头的形成如何影响另一个接头的切割效率。我们的结果表明,信号接头和编码接头的形成是独立解决的,因为它们可以彼此解偶联。我们还发现,信号联会对于重组产物的产生至关重要,这极大地限制了基因组中可能发生的潜在单链切割程度。最后,倒位底物表现出的联会抑制距离比缺失底物长得多,这表明在联会过程中需要信号的平行而非反平行排列。这些观察结果对于理解V(D)J信号与重组酶的相互作用很重要。此外,信号联会在调节重组酶活性中的作用对于重组酶介导的染色体易位频率方面的基因组稳定性具有重要意义。