Ino T, Kurosawa Y, Yoshida M C, Hirano M
Proc Natl Acad Sci U S A. 1987 Jun;84(12):4264-7. doi: 10.1073/pnas.84.12.4264.
DNA rearrangements that occurred in the vicinity of T-cell antigen receptor beta-chain gene clusters residing on chromosome 7 were examined in human T-cell acute lymphoblastic leukemia cells. In one patient, it was observed that, for the T-cell receptor beta-chain genes, a D beta 1-J beta 2.3 (where D is diversity and J is joining) junction was found on one chromosome, while the other chromosome kept the germ-line configuration. If this D beta-J beta junction was formed by the customary deletion mechanism, the C beta 1 gene (where C is constant) located between the D beta 1 and J beta 2.3 loci should have disappeared from this chromosome. The C beta 1 gene indeed was absent from the rearranged chromosome 7, but it was found on chromosome 6 as an inserted segment. The implications of the observations are discussed.
在人类T细胞急性淋巴细胞白血病细胞中，研究了位于7号染色体上的T细胞抗原受体β链基因簇附近发生的DNA重排。在一名患者中，观察到对于T细胞受体β链基因，在一条染色体上发现了一个Dβ1-Jβ2.3（其中D是多样性，J是连接）连接，而另一条染色体保持种系构型。如果这个Dβ-Jβ连接是由常规的缺失机制形成的，那么位于Dβ1和Jβ2.3基因座之间的Cβ1基因（其中C是恒定区）应该已经从这条染色体上消失。重排的7号染色体上确实没有Cβ1基因，但在6号染色体上发现它作为一个插入片段。讨论了这些观察结果的意义。
