Tycko B, Sklar J
Harvard Medical School.
Cancer Cells. 1990 Jan;2(1):1-8.
Chromosomal translocations are common in tumors and are considered to represent one of the major classes of genetic alterations productive of the malignant phenotype. Although the molecular mechanisms leading to translocations are unknown, structural analysis of translocations in tumors derived from lymphocytes and their precursors has suggested the involvement of the lymphocyte recombinase, a normal cellular enzyme (or enzyme complex) that is essential for antigen receptor gene rearrangement. Recent observations of frequent recombinase-mediated interchromosomal exchanges between separate antigen receptor genes in normal lymphocyte precursors have provided clear examples of the ability of the recombinase to catalyze chromosomal translocation events, some of which may actually contribute to increased diversity of antigen receptor proteins. These findings have established that, even in the normal setting, the recombinase is not constrained to act only on gene segments linked in cis, but can also function in trans. Certain tumor-associated chromosomal translocations can be explained as subversions of this enzymatic capability.
染色体易位在肿瘤中很常见,被认为是产生恶性表型的主要遗传改变类型之一。尽管导致易位的分子机制尚不清楚,但对源自淋巴细胞及其前体的肿瘤中的易位进行结构分析表明,淋巴细胞重组酶参与其中,这是一种正常的细胞酶(或酶复合物),对抗原受体基因重排至关重要。最近在正常淋巴细胞前体中频繁观察到重组酶介导的不同抗原受体基因之间的染色体间交换,这为重组酶催化染色体易位事件的能力提供了明确的例子,其中一些易位事件实际上可能有助于增加抗原受体蛋白的多样性。这些发现表明,即使在正常情况下,重组酶也不限于仅作用于顺式连接的基因片段,也可以反式发挥作用。某些与肿瘤相关的染色体易位可以解释为这种酶活性的颠覆。