Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10-12, 08028 Barcelona, Spain.
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10-12, 08028 Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Pg. Lluis Companys, 23, 08010 Barcelona, Spain.
Dev Cell. 2024 Feb 5;59(3):295-307. doi: 10.1016/j.devcel.2023.12.009.
A balanced gene complement is crucial for proper cell function. Aneuploidy, the condition of having an imbalanced chromosome set, alters the stoichiometry of gene copy numbers and protein complexes and has dramatic consequences at the cellular and organismal levels. In humans, aneuploidy is associated with different pathological conditions including cancer, microcephaly, mental retardation, miscarriages, and aging. Over the last century, Drosophila has provided a valuable system for studying the consequences of systemic aneuploidies. More recently, it has contributed to the identification and molecular dissection of aneuploidy-induced cellular behaviors and their impact at the tissue and organismal levels. In this perspective, we review this active field of research, first by comparing knowledge from yeast, mouse, and human cells, then by highlighting the contributions of Drosophila. The aim of these discussions was to further our understanding of the functional interplay between aneuploidy, cell physiology, and tissue homeostasis in human development and disease.
平衡的基因组成对于细胞的正常功能至关重要。非整倍体，即染色体组不平衡的状态，改变了基因拷贝数和蛋白质复合物的化学计量，并在细胞和机体水平上产生了巨大的后果。在人类中，非整倍体与多种病理状况有关，包括癌症、小头畸形、智力迟钝、流产和衰老。在上个世纪，果蝇为研究系统性非整倍体的后果提供了一个有价值的系统。最近，它有助于鉴定和分子剖析非整倍体诱导的细胞行为及其在组织和机体水平上的影响。在这篇观点文章中，我们首先通过比较酵母、小鼠和人类细胞的知识，然后通过突出果蝇的贡献，来回顾这个活跃的研究领域。这些讨论的目的是增进我们对人类发育和疾病中非整倍体、细胞生理学和组织动态平衡之间功能相互作用的理解。
