CLONING AND CHARACTERIZATION OF THE EWINGS-SARCOMA AND PERIPHERAL NEUROEPITHELIOMA T(11 22) TRANSLOCATION BREAKPOINTS
CLONING AND CHARACTERIZATION OF THE EWINGS-SARCOMA AND PERIPHERAL NEUROEPITHELIOMA T(11 22) TRANSLOCATION BREAKPOINTS
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DOI：
10.1002/gcc.2870050402
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发表时间：
1992-11-01
影响因子：
3.7
通讯作者：
THOMAS, G
中科院分区：
文献类型：
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作者：
ZUCMAN, J;DELATTRE, O;THOMAS, G
尤文肉瘤(ES)和周围神经上皮瘤(PN)是两种可能起源于神经脊的相关肿瘤，其细胞遗传学特征为t(11；22)(q24；q12)。间期核原位杂交显示，COS5基因座位于该易位的22号染色体断裂点附近，位于VIIIF2和LIF之间，这两个基因座位于断裂点两侧，距离小于2,000kb。该基因座通过染色体行走逐渐扩展，构建了300kb的重叠群，最终越过了断裂点。随后克隆了一个PN的两个易位连接片段，随后对20个ES和PN的易位断裂点进行了分子鉴定，结果表明，大多数22号染色体断裂点聚集在一个小的2kb区域内。相比之下，11号染色体的断裂点散布在至少40kb的区域。易位导致合成嵌合转录本，连接来自22号和11号染色体的序列。最后，没有发现任何证据表明ES和PN易位断裂点的位置有任何特定的差异。
Ewing's sarcoma (ES) and peripheral neuroepithelioma (PN) are related tumors, possibly of neural crest origin, which are cytogenetically characterized by the specific translocation t(11;22)(q24;q12). The cos5 locus, previously identified in the vicinity of the chromosome 22 breakpoint of this translocation, was shown by in situ hybridization on interphase nuclei to lie between VIIIF2 and LIF, two loci located on either side of the breakpoint and at a distance of less than 2,000 kb. The progressive expansion of this locus by chromosome walking led to the construction of a 300 kb contig, which finally crossed the breakpoint. The subsequent cloning of the two translocation junction fragments of a PN, followed by the molecular characterization of the translocation breakpoints of 20 ES and PN, showed that most chromosome 22 breakpoints are clustered within a small, 2 kb region. In contrast, the chromosome 11 breakpoints are scattered over a region of at least 40 kb. The translocation leads to the synthesis of a chimeric transcript that links sequences from chromosomes 22 and 11. Finally, no evidence was found of any specific difference in the position of ES and PN translocation breakpoints.