Disruption of the SCL gene by a t(1;3) translocation in a patient with T cell acute lymphoblastic leukemia.
Disruption of the SCL gene by a t(1;3) translocation in a patient with T cell acute lymphoblastic leukemia.
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DOI：
10.1084/jem.176.5.1303
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发表时间：
1992-11-01
期刊：
影响因子：
--
通讯作者：
Kirsch IR
中科院分区：
文献类型：
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作者：
Aplan PD;Raimondi SC;Kirsch IR
SCL基因破坏是与T细胞急性淋巴细胞白血病（ALL）发展相关的最常见的染色体异常。这种破坏可能是t（1;14）和t（1;7）易位的结果，以及1号染色体的细胞遗传学上不可检测的间质缺失。我们在这里提出的情况下，T细胞急性淋巴细胞白血病与t（1;3）（p34;p21）易位，也破坏了SCL基因座，并导致SCL基因表达失调。这种易位，类似于以前报道的SCL基因破坏，似乎已经介导，至少部分地，由V（D）J重组酶复合物，因为隐蔽的七聚体识别序列，以及非模板N区核苷酸添加，存在于断点。t（1; 3）还破坏了3号染色体上的一个区域，该区域以交替的嘌呤和嘧啶残基为特征，其可以形成Z-DNA结构，据报道易于发生重组事件。在3号染色体上的断裂点的8 kb内检测到以前未描述的、进化上保守的转录单位。本报告扩展了与T细胞ALL相关的公认SCL易位的范围，并强调了SCL表达失调可能是T细胞ALL的因果事件的论点。
SCL gene disruptions are the most common chromosomal abnormality associated with the development of T cell acute lymphoblastic leukemia (ALL). Such disruptions can be the result of t(1;14) and t(1;7) translocations, as well as a cytogenetically undetectable interstitial deletion of chromosome 1. We present here a case of T cell ALL with a t(1;3)(p34;p21) translocation that also disrupts the SCL locus and leads to dysregulated SCL gene expression. This translocation, similar to previously reported SCL gene disruptions, appears to have been mediated, at least in part, by the V(D)J recombinase complex, since cryptic heptamer recognition sequences, as well as nontemplated N region nucleotide addition, are present at the breakpoints. The t(1;3) also disrupts a region on chromosome 3 characterized by alternating purine and pyrimidine residues, which can form a Z-DNA structure, reported to be prone to recombination events. A previously undescribed, evolutionarily conserved transcript unit is detected within 8 kb of the breakpoint on chromosome 3. This report extends the spectrum of recognized SCL translocations associated with T cell ALL, and underscores the contention that dysregulated SCL expression may be a causal event in T cell ALL.