Schuler W, Ruetsch N R, Amsler M, Bosma M J
Basel Institute for Immunology, Switzerland.
Eur J Immunol. 1991 Mar;21(3):589-96. doi: 10.1002/eji.1830210309.
The mouse mutation scid adversely affects the process of VDJ recombination. Attempts to form coding joints, that is, to joint V or D to J gene segments generally fail in developing scid lymphocytes. It has been proposed that the scid mutation results a defective VDJ recombinase system. Here we describe five scid T cell lymphomas containing one or two TcR gamma coding joints each, even though the majority of the multiple TcR gamma chain gene rearrangements and all TcR beta rearrangements in these cells were abnormal with the deletions typically found in scid lymphoid cells. One of the five T cell lymphomas was shown to have an active VDJ recombinase system; however, this activity was defective indicating that the scid phenotype has been retained. We conclude that the scid VDJ recombinase system has not completely lost the ability to form coding joints. P-nucleotide additions of unusual length or composition were found at the junctional border in five of the eight TcR gamma coding joints. This might reflect a defect in the activity of a component of the VDJ recombinase system involved in the generation of P-nucleotide additions. In one of the observed rearrangements, a V gamma 5-J gamma 3 coding joint was formed. This establishes the transcriptional orientation of J gamma 3-C gamma 3 and confirms a previously proposed organization of the TcR gamma genes.
小鼠突变scid对VDJ重排过程产生不利影响。在发育中的scid淋巴细胞中，形成编码连接（即V或D与J基因片段连接）的尝试通常会失败。有人提出scid突变导致VDJ重组酶系统存在缺陷。在此，我们描述了五个scid T细胞淋巴瘤，每个淋巴瘤含有一两个TcRγ编码连接，尽管这些细胞中大多数多个TcRγ链基因重排以及所有TcRβ重排都是异常的，具有scid淋巴细胞中典型的缺失。五个T细胞淋巴瘤中的一个被证明具有活跃的VDJ重组酶系统；然而，这种活性存在缺陷，表明scid表型得以保留。我们得出结论，scid VDJ重组酶系统并未完全丧失形成编码连接的能力。在八个TcRγ编码连接中的五个连接边界处发现了长度或组成异常的P核苷酸添加。这可能反映了参与P核苷酸添加生成的VDJ重组酶系统某个组分的活性缺陷。在观察到的一次重排中，形成了一个Vγ5-Jγ3编码连接。这确定了Jγ3-Cγ3的转录方向，并证实了先前提出的TcRγ基因组织形式。
