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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia.
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Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia.

机译:急性淋巴细胞白血病中12p13的TEL基因与21q22的AML1基因融合。

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摘要

Chromosomal rearrangements involving band 12p13 are found in a wide variety of human leukemias but are particularly common in childhood acute lymphoblastic leukemia. The genes involved in these rearrangements, however, have not been identified. We now report the cloning of a t(12;21) translocation breakpoint involving 12p13 and 21q22 in two cases of childhood pre-B acute lymphoblastic leukemia, in which t(12;21) rearrangements were not initially apparent. The consequence of the translocation is fusion of the helix-loop-helix domain of TEL, an ETS-like putative transcription factor, to the DNA-binding and transactivation domains of the transcription factor AML1. These data show that TEL, previously shown to be fused to the platelet-derived growth factor receptor beta in chronic myelomonocytic leukemia, can be implicated in the pathogenesis of leukemia through its fusion to either a receptor tyrosine kinase or a transcription factor. The TEL-AML1 fusion also indicates that translocations affecting the AML1 gene can be associated with lymphoid, as well as myeloid, malignancy.
机译:在许多人类白血病中发现了涉及12p13带的染色体重排,但在儿童急性淋巴细胞白血病中尤为常见。然而,尚未鉴定出与这些重排有关的基因。我们现在报告在儿童期B前急性淋巴细胞白血病的两个案例中克隆涉及12p13和21q22的t(12; 21)易位断点,其中t(12; 21)重排最初并不明显。易位的结果是将ETS样推定转录因子TEL的螺旋-环-螺旋结构域与转录因子AML1的DNA结合和反激活域融合。这些数据表明,TEL,以前显示与慢性粒单核细胞白血病中血小板衍生的生长因子受体β融合,可以通过与受体酪氨酸激酶或转录因子融合来参与白血病的发病机制。 TEL-AML1融合还表明影响AML1基因的易位可能与淋巴样以及骨髓恶性肿瘤有关。

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