Nuclear lamins: Structure and function in mechanobiology.
Nuclear lamins: Structure and function in mechanobiology.
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DOI：
10.1063/5.0082656
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发表时间：
2022-03
影响因子：
6
通讯作者：
Goldman RD
中科院分区：
文献类型：
--
作者：
Vahabikashi A;Adam SA;Medalia O;Goldman RD
核纤层蛋白是V型中间丝蛋白，其在核周围以较不结构化的形式存在于整个核质中，形成复杂的丝状网络。核纤层蛋白与广泛的核蛋白相互作用，并参与许多核和细胞功能。在细胞核内，它们在染色质组织和基因调控、核形状、大小和力学以及核孔复合物的组织和锚定中发挥作用。在整个细胞水平，它们参与细胞骨架的组织、细胞运动和机械转导。不同核纤层蛋白亚型的表达与发育进程、分化和组织特异性功能有关。核纤层蛋白及其结合蛋白的突变导致超过15种不同的人类疾病，称为核纤层蛋白病。纤层蛋白病包括肌肉（例如，Emery-Dreifuss肌营养不良症和扩张型心肌病），神经系统（例如，小头畸形），和代谢（例如，家族性部分脂肪营养不良）疾病以及过早衰老疾病（例如，Hutchinson-Gilford早衰症和Werner综合征）。核纤层蛋白如何导致核纤层蛋白病的病因学仍然是未知的。在这篇综述文章中，我们总结了核纤层蛋白的结构，组织和多种功能的核和全球性的细胞过程的主要最近的研究结果。
Nuclear lamins are type V intermediate filament proteins that polymerize into complex filamentous meshworks at the nuclear periphery and in less structured forms throughout the nucleoplasm. Lamins interact with a wide range of nuclear proteins and are involved in numerous nuclear and cellular functions. Within the nucleus, they play roles in chromatin organization and gene regulation, nuclear shape, size, and mechanics, and the organization and anchorage of nuclear pore complexes. At the whole cell level, they are involved in the organization of the cytoskeleton, cell motility, and mechanotransduction. The expression of different lamin isoforms has been associated with developmental progression, differentiation, and tissue-specific functions. Mutations in lamins and their binding proteins result in over 15 distinct human diseases, referred to as laminopathies. The laminopathies include muscular (e.g., Emery–Dreifuss muscular dystrophy and dilated cardiomyopathy), neurological (e.g., microcephaly), and metabolic (e.g., familial partial lipodystrophy) disorders as well as premature aging diseases (e.g., Hutchinson–Gilford Progeria and Werner syndromes). How lamins contribute to the etiology of laminopathies is still unknown. In this review article, we summarize major recent findings on the structure, organization, and multiple functions of lamins in nuclear and more global cellular processes.
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影响因子：
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