Chervinsky D S, Zhao X F, Lam D H, Ellsworth M, Gross K W, Aplan P D
Departments of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263, USA.
Mol Cell Biol. 1999 Jul;19(7):5025-35. doi: 10.1128/MCB.19.7.5025.
The gene most commonly activated by chromosomal rearrangements in patients with T-cell acute lymphoblastic leukemia (T-ALL) is SCL/tal. In collaboration with LMO1 or LMO2, the thymic expression of SCL/tal leads to T-ALL at a young age with a high degree of penetrance in transgenic mice. We now show that SCL LMO1 double-transgenic mice display thymocyte developmental abnormalities in terms of proliferation, apoptosis, clonality, and immunophenotype prior to the onset of a frank malignancy. At 4 weeks of age, thymocytes from SCL LMO1 mice show 70% fewer total thymocytes, with increased rates of both proliferation and apoptosis, than control thymocytes. At this age, a clonal population of thymocytes begins to populate the thymus, as evidenced by oligoclonal T-cell-receptor gene rearrangements. Also, there is a dramatic increase in immature CD44(+) CD25(-) cells, a decrease in the more mature CD4(+) CD8(+) cells, and development of an abnormal CD44(+) CD8(+) population. An identical pattern of premalignant changes is seen with either a full-length SCL protein or an amino-terminal truncated protein which lacks the SCL transactivation domain, demonstrating that the amino-terminal portion of SCL is not important for leukemogenesis. Lastly, we show that the T-ALL which develop in the SCL LMO1 mice are strikingly similar to those which develop in E2A null mice, supporting the hypothesis that SCL exerts its oncogenic action through a functional inactivation of E proteins.
在T细胞急性淋巴细胞白血病(T-ALL)患者中,因染色体重排而最常被激活的基因是SCL/tal。与LMO1或LMO2协同作用时,SCL/tal在胸腺中的表达会导致转基因小鼠在幼年时发生T-ALL,且具有高度的外显率。我们现在发现,SCL LMO1双转基因小鼠在明显的恶性肿瘤发生之前,就胸腺细胞发育异常而言,在增殖、凋亡、克隆性和免疫表型方面均表现出异常。4周龄时,SCL LMO1小鼠的胸腺细胞总数比对照胸腺细胞少70%,同时增殖率和凋亡率均增加。在这个年龄段,寡克隆性T细胞受体基因重排证明,一群克隆性胸腺细胞开始在胸腺中聚集。此外,未成熟的CD44(+) CD25(-)细胞显著增加,更成熟的CD4(+) CD8(+)细胞减少,并且出现异常的CD44(+) CD8(+)群体。全长SCL蛋白或缺乏SCL反式激活结构域的氨基末端截短蛋白都出现相同的癌前变化模式,这表明SCL的氨基末端部分对白血病发生并不重要。最后,我们发现SCL LMO1小鼠中发生的T-ALL与E2A基因敲除小鼠中发生的T-ALL惊人地相似,这支持了SCL通过E蛋白的功能失活发挥其致癌作用的假说。