David H. Koch Institute for Integrative Cancer Research and Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
Annu Rev Cell Dev Biol. 2012;28:189-214. doi: 10.1146/annurev-cellbio-101011-155807. Epub 2012 Jul 9.
Deviation from a balanced genome by either gain or loss of entire chromosomes is generally tolerated poorly in all eukaryotic systems studied to date. Errors in mitotic or meiotic cell division lead to aneuploidy, which places a burden of additional or insufficient gene products from the missegregated chromosomes on the daughter cells. The burden of aneuploidy often manifests itself as impaired fitness of individual cells and whole organisms, in which abnormal development is also characteristic. However, most human cancers, noted for their rapid growth, also display various levels of aneuploidy. Here we discuss the detrimental, potentially beneficial, and sometimes puzzling effects of aneuploidy on cellular and organismal fitness and tissue function as well as its role in diseases such as cancer and neurodegeneration.
在迄今为止研究过的所有真核系统中，通过获得或丢失整条染色体而偏离平衡基因组通常都不能很好地耐受。有丝分裂或减数分裂细胞分裂中的错误会导致非整倍体，这会给错误分离的染色体的子细胞带来额外或不足的基因产物负担。非整倍体的负担通常表现为单个细胞和整个生物体的适应性降低，其中异常发育也是特征。然而，大多数以快速生长为特征的人类癌症也显示出不同程度的非整倍体。在这里，我们讨论了非整倍体对细胞和生物体适应性以及组织功能的有害、潜在有益和有时令人困惑的影响，以及它在癌症和神经退行性疾病等疾病中的作用。
