The AML1 gene in the 8;21 and 3;21 translocations in chronic and acute myeloid leukemia.
The AML1 gene in the 8;21 and 3;21 translocations in chronic and acute myeloid leukemia.
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慢性和急性髓系白血病中 AML1 基因的 8;21 和 3;21 易位。
DOI：
10.1101/sqb.1994.059.01.068
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
Rowley,JD
中科院分区：
文献类型：
--
作者：
Nucifora,G;Rowley,JD
复发性染色体易位在某些肿瘤中相对常见，特别是白血病、淋巴瘤和一些肉瘤(Heim和Mitelman 1987)。易位断点的克隆已经确定了参与断点连接的基因，这反过来又导致了对基因改变方式的确定。这些基因可以在其表达水平上或在编码蛋白质的性质上进行改变。这些改变似乎在恶性表型的发展中起着不可或缺的作用。在B和T细胞中，反复发生的染色体易位通过将在这一调节中重要的基因置于另一基因的控制下而扰乱正常的生长调节，最常见的是B细胞中的免疫球蛋白基因或T细胞中的T细胞受体基因。这些易位的经典例子涉及MYC原癌基因，见于Burkitt淋巴瘤或B细胞急性淋巴细胞白血病(ALL)和带有t(8；14)的T细胞白血病。在这些易位中，MYC蛋白没有改变。对转基因小鼠的实验直接表明，解除对MYC的过度表达确实会导致肿瘤(Adams等人)。1985年)。相反，在B细胞白血病中，少数易位导致两个基因的融合，从而产生融合蛋白，如t(1；19)、t(4；11)和t(11；19)。
Recurring chromosomal translocations are relatively common in certain neoplasms, particularly leukemias, lymphomas, and some sarcomas (Heim and Mitelman 1987). Cloning of the translocation breakpoints has identified the genes involved in the breakpoint junctions, and this in turn has led to a determination of the manner in which the genes are altered. The genes can be altered in the level of their expression or in the properties of the encoded proteins. These alterations appear to play an integral role in the development of the malignant phenotype.In B and T cells, recurring chromosomal translocations disrupt the normal growth regulation by placing a gene important in this regulation under the control of another gene, most often the immunoglobulin genes in B cells or the T-cell receptor genes in T cells. Classic examples of these translocations involve the MYC proto-oncogene and are seen in Burkitt's lymphoma or B-cell acute lymphoblastic leukemia (ALL) and in T-cell leukemia with the t (8; 14). The MYC protein is not altered in these translocations. Experiments with transgenic mice have shown directly that the deregulated overexpression of MYC can indeed lead to neoplasia (Adams et al. 1985). In contrast, a few translocations in B-cell leukemia lead to fusion of the two genes, and thus to the production of a fusion protein, eg, t (1; 19), t (4; 11), and t (11; 19).