The t(X;l)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene
The t(X;l)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene
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DOI：
10.1093/hmg/5.9.1333
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发表时间：
1996-09-01
影响因子：
3.5
通讯作者：
Cooper, CS
中科院分区：
文献类型：
--
作者：
Sidhar, SK;Clark, J;Cooper, CS
特异性染色体易位t（X;1）（p11，2; q21，2）在人乳头状肾细胞癌中被观察到，在这项研究中，我们证明了这种易位导致了一种新的基因PRCC在1 q21，2处与TFE 3基因在Xp 11，2处的融合，TFE 3编码碱性螺旋-环-螺旋（bHLH）的一个成员转录因子家族，最初通过其与免疫球蛋白重链内含子增强子中的μ E3元件结合的能力鉴定，预计易位导致PROC蛋白的N-末端区域（其包括富含脯氨酸的结构域）与整个TFE 3蛋白融合。值得注意的是，嵌合PRCC-TFE 3基因的产生似乎伴随着正常TFE 3转录物的完全丧失，这项工作确立了染色体易位对转录控制的破坏在肾癌的发展中是重要的，除了先前确定的在肉瘤和白血病病因学中的作用。
The specific chromosomal translocation t(X;1)(p11,2;q21,2) has been observed in human papillary renal cell carcinomas, In this study we demonstrated that this translocation results in the fusion of a novel gene designated PRCC at 1q21,2 to the TFE3 gene at Xp11,2, TFE3 encodes a member of the basic helix-loop-helix (bHLH) family of transcription factors originally identified by its ability to bind to mu E3 elements in the immunoglobin heavy chain intronic enhancer, The translocation is predicted to result in the fusion of the N-terminal region of the PROC protein, which includes a proline-rich domain, to the entire TFE3 protein, Notably the generation of the chimaeric PRCC-TFE3 gene appears to be accompanied by complete loss of normal TFE3 transcripts, This work establishes that the disruption of transcriptional control by chromosomal translocation is important in the development of kidney carcinoma in addition to its previously established role in the aetiology of sarcomas and leukaemias.