Molecular characterization of a chromosome translocation breakpoint t(11;14)(p13;q11) from the cell line KOPT-K1.
Molecular characterization of a chromosome translocation breakpoint t(11;14)(p13;q11) from the cell line KOPT-K1.
复制标题
细胞系 KOPT-K1 染色体易位断点 t(11;14)(p13;q11) 的分子表征。
作者：
W. Dong;Y. Xu;Q. Hu;D. Munroe;J. Minowada;D. Housman;M. Minden
在5-10%的T-ALL病例中发现涉及11 p13和14 q11的复发性染色体易位。参与14号染色体易位的基因是T细胞抗原受体α或δ。11号染色体上的推定致癌基因是菱形蛋白2（RBTN 2）/T细胞基因2（ttg-2）中的易位，其是LIM蛋白家族的成员。在本文中，我们描述了一个细胞系KOPT-K1，有一个t（11;14）（p13;q11）。11号染色体上的断裂点涉及一个富含Alu的区域，断裂发生在11号染色体上的两个Alu序列之间。此外，从11号染色体上的断裂开始的大约70个碱基是四核苷酸重复。这些结构中的任何一个是否在易位中发挥了作用尚不清楚。在断裂点附近没有发现涉及其他重排的七聚体或九聚体序列。11号染色体上的断点比该区域以前的易位更多地定位于着丝粒。尽管如此，RBTN 2基因在KOPT-K1中高度表达。该细胞系将有助于研究RBTN 2在白血病发生中的作用以及易位改变RBTN 2表达的机制。
Recurrent chromosome translocations involving 11p13 and 14q11 are found in 5-10% of cases of T-ALL. The gene involved in the translocation on chromosome 14 is the T cell antigen receptor alpha or delta. The putative oncogene on chromosome 11 is rhombotin 2 (RBTN2)/translocated in T cell gene 2 (ttg-2), a member of the LIM family of proteins. In this paper we characterize a cell line KOPT-K1 that has a t(11;14)(p13;q11). The breakpoint on chromosome 11 involves an Alu-rich region with the break occurring between two Alu sequences on chromosome 11. In addition, approximately 70 bases from the break on chromosome 11 is a tetranucleotide repeat. Whether either of these structures played a role in the translocation is not known. No heptamer or nonamer sequences, implicated in other rearrangements were found near the breakpoint. The breakpoint on chromosome 11 maps more centromeric than previous translocations of this region. Despite this the RBTN2 gene is highly expressed in KOPT-K1. This cell line will be useful for investigating the role of RBTN2 in leukemogenesis and the mechanism by which the translocation alters the expression of RBTN2.