CHARACTERIZATION OF AN INVERSION ON THE LONG ARM OF CHROMOSOME-10 JUXTAPOSING D10S170 AND RET AND CREATING THE ONCOGENIC SEQUENCE RET PTC
CHARACTERIZATION OF AN INVERSION ON THE LONG ARM OF CHROMOSOME-10 JUXTAPOSING D10S170 AND RET AND CREATING THE ONCOGENIC SEQUENCE RET PTC
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DOI：
10.1073/pnas.89.5.1616
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发表时间：
1992-03-01
影响因子：
11.1
通讯作者：
VECCHIO, G
中科院分区：
文献类型：
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作者：
PIEROTTI, MA;SANTORO, M;VECCHIO, G
RET/PTC 是由 RET 原癌基因的酪氨酸激酶结构域与探针 H4 指定的基因座 D10S170 的 5' 端融合而产生的转化序列，并且经常发现在人乳头状甲状腺癌中被激活。 RET 和 D10S170 已分别定位到 10 号染色体长臂的连续区域：q11.2 和 q21。为了确定导致致癌序列 RET/PTC 产生的机制，对几例甲状腺乳头状癌进行了细胞遗传学和分子联合分析。在四个病例中，结果表明这些肿瘤具有 RET/PTC 激活和 10 号染色体长臂 inv(10)(q11.2q21) 的旁中心倒位，断点与 RET 和 D10S170 所在区域一致。因此，染色体 10q 倒位为形成杂合转化序列 RET/PTC 的 D10S170-RET 融合提供了结构基础。
RET/PTC is a transforming sequence created by the fusion of the tyrosine kinase domain of the RET protooncogene with the 5' end of the locus D10S170 designated by probe H4 and is frequently found activated in human papillary thyroid carcinomas. RET and D10S170 have been mapped to contiguous regions of the long arm of chromosome 10: q11.2 and q21, respectively. To identify the mechanism leading to the generation of the oncogenic sequence RET/PTC, a combined cytogenetic and molecular analysis of several cases of papillary thyroid carcinomas was done. In four cases the results indicated that these tumors had RET/PTC activation and a paracentric inversion of the long arm of chromosome 10, inv(10)(q11.2q21), with breakpoints coincident with the regions where RET and D10S170 are located. Therefore, a chromosome 10q inversion provides the structural basis for the D10S170-RET fusion that forms the hybrid transforming sequence RET/PTC.