Department of Molecular Genetics, TU Kaiserslautern, Paul Ehrlich Str. 24, 67663 Kaiserslautern, Germany.
Semin Cell Dev Biol. 2021 Sep;117:149-158. doi: 10.1016/j.semcdb.2021.03.007. Epub 2021 Apr 2.
Eukaryotic cells are usually diploid, meaning they contain two copies of each chromosome. However, aberrant chromosome numbers due to both, chromosome gains and losses, are often observed in nature. They can occur as a planned developmental step, but are more often an uninvited result of mitotic failure. Recent discoveries have improved our understanding of the cellular effects of aneuploidy - uneven chromosome numbers, and polyploidy - multiplication of entire sets of chromosomes - in eukaryotic cells. The results show that mitotic errors lead to rapid and extensive modifications of many cellular processes and affect proliferation, proteome balance, genome stability and more. The findings picture the cellular response to aneuploidy and polyploidy as a complex, tissue and context dependent network of events. Here I review the latest discoveries, with an emphasis on pathological aspects of aneuploidy and polyploidy in human cells.
真核细胞通常为二倍体，这意味着它们的每条染色体都含有两份拷贝。然而，在自然界中，由于染色体的增加和缺失，常观察到异常的染色体数目。这些染色体数目异常可以作为有计划的发育步骤发生，但更常见的是有丝分裂失败的意外结果。最近的发现提高了我们对真核细胞中非整倍体（染色体数目不均等）和多倍体（整套染色体的倍增）的细胞效应的理解。结果表明，有丝分裂错误会导致许多细胞过程的快速广泛的改变，并影响增殖、蛋白质组平衡、基因组稳定性等。这些发现将细胞对非整倍体和多倍体的反应描绘为一个复杂的、依赖于组织和背景的事件网络。在这里，我将重点介绍非整倍体和多倍体在人类细胞中的病理方面，回顾最新的发现。
