Dauer William T, Worman Howard J
Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109 USA.
Dev Cell. 2009 Nov;17(5):626-38. doi: 10.1016/j.devcel.2009.10.016.
The development of a membrane-bound structure separating DNA from other cellular components was the epochal evolutionary event that gave rise to eukaryotes, possibly occurring up to 2 billion years ago. Yet, this view of the nuclear envelope as a physical barrier greatly underestimates its fundamental impact on cellular organization and complexity, much of which is only beginning to be understood. Indeed, alterations of nuclear envelope structure and protein composition are essential to many aspects of metazoan development and cellular differentiation. Mutations in genes encoding nuclear envelope proteins cause a fascinating array of diseases referred to as "nuclear envelopathies" or "laminopathies" that affect different tissues and organ systems. We review recent work on the nuclear envelope, including insights derived from the study of nuclear envelopathies. These studies are uncovering new functions for nuclear envelope proteins and underlie an emerging view of the nuclear envelope as a critical signaling node in development and disease.
一种将DNA与其他细胞成分分隔开的膜结合结构的发展是产生真核生物的具有划时代意义的进化事件，这一事件可能发生在多达20亿年前。然而，将核膜视为物理屏障的这种观点极大地低估了它对细胞组织和复杂性的根本影响，而其中许多影响才刚刚开始被理解。事实上，核膜结构和蛋白质组成的改变对于后生动物发育和细胞分化的许多方面至关重要。编码核膜蛋白的基因突变会导致一系列引人入胜的疾病，称为“核膜病”或“核纤层蛋白病”，这些疾病会影响不同的组织和器官系统。我们综述了关于核膜的近期研究工作，包括从核膜病研究中获得的见解。这些研究正在揭示核膜蛋白的新功能，并奠定了一种新出现的观点，即核膜是发育和疾病中的关键信号节点。
