Gisselsson David
Department of Clinical Genetics; University Hospital; SE 221 85 Lund, Sweden.
Cell Cycle. 2005 Aug;4(8):1007-10. doi: 10.4161/cc.4.8.1884. Epub 2005 Aug 1.
It has been known for more than a century that neoplastic cells often exhibit disturbances of the mitotic process, but the causes have only recently been thoroughly explored. In many cancers, a combination of cell cycle checkpoint deficiency and abnormal shortening of telomeres predisposes to unbalanced chromosome segregation at cell division and the development of complex genomic rearrangements. Shortening of telomeric repeats beyond normal limits leads to fusion of chromosome ends and the formation of chromatin bridges at anaphase. In turn, these bridges may trigger at least three types of chromosomes mutation: (1) structural rearrangements of chromosomes through extensive chromatin fragmentation beyond the centromeric sequences, typically leading to the formation of isochromosomes and whole-arm translocations, (2) loss of whole chromosomes through mechanical detachment from the mitotic spindle machinery, and (3) failure of cytokinesis, leading to polyploidisation and supernumerary centrosomes, which may in turn orchestrate multipolar spindle configurations at a subsequent mitosis. Anaphase bridging rarely hinders further survival of tumor daughter cells. In contrast, multipolar mitoses may lead to extensive reshuffling of chromosome copies that compromise further clonal expansion. The telomere-dependent instability can be partly counteracted by expression of telomerase during tumor progression, but genomic stabilisation is rarely, if ever, complete.
一个多世纪以来,人们已经知道肿瘤细胞常常表现出有丝分裂过程的紊乱,但直到最近才对其原因进行了深入研究。在许多癌症中,细胞周期检查点缺陷和端粒异常缩短共同作用,使得细胞分裂时染色体分离失衡,并导致复杂的基因组重排。端粒重复序列缩短至正常范围以下会导致染色体末端融合,并在后期形成染色质桥。反过来,这些桥可能引发至少三种类型的染色体突变:(1)通过着丝粒序列以外的广泛染色质片段化导致染色体结构重排,通常会形成等臂染色体和全臂易位;(2)通过与有丝分裂纺锤体机制机械分离导致整条染色体丢失;(3)胞质分裂失败,导致多倍体化和多余中心体的出现,这反过来可能在随后的有丝分裂中协调多极纺锤体的形成。后期桥接很少会阻碍肿瘤子细胞的进一步存活。相反,多极有丝分裂可能导致染色体拷贝的广泛重新排列,从而影响进一步的克隆扩增。在肿瘤进展过程中,端粒酶的表达可以部分抵消端粒依赖性的不稳定性,但基因组稳定很少能完全实现。