Nano Maddalena, Basto Renata
Institut Curie, PSL Research University, CNRS UMR144, 12 rue Lhomond, 75005, Paris, France.
Adv Exp Med Biol. 2017;1002:19-45. doi: 10.1007/978-3-319-57127-0_2.
Development requires cell proliferation, differentiation and spatial organization of daughter cells to occur in a highly controlled manner. The mode of cell division, the extent of proliferation and the spatial distribution of mitosis allow the formation of tissues of the right size and with the correct structural organization. All these aspects depend on cell cycle duration, correct chromosome segregation and spindle orientation. The centrosome, which is the main microtubule-organizing centre (MTOC) of animal cells, contributes to all these processes. As one of the most structurally complex organs in our body, the brain is particularly susceptible to centrosome dysfunction. Autosomal recessive primary microcephaly (MCPH), primordial dwarfism disease Seckel syndrome (SCKS) and microcephalic osteodysplastic primordial dwarfism type II (MOPD-II) are often connected to mutations in centrosomal genes. In this chapter, we discuss the consequences of centrosome dysfunction during development and how they can contribute to the etiology of human diseases.
发育过程需要细胞增殖、分化以及子细胞的空间组织以高度可控的方式发生。细胞分裂模式、增殖程度以及有丝分裂的空间分布决定了大小合适且结构组织正确的组织的形成。所有这些方面都依赖于细胞周期时长、正确的染色体分离以及纺锤体定向。中心体作为动物细胞主要的微管组织中心（MTOC），参与了所有这些过程。作为人体中结构最复杂的器官之一，大脑特别容易受到中心体功能障碍的影响。常染色体隐性原发性小头畸形（MCPH）、原始侏儒症疾病塞克尔综合征（SCKS）以及II型小头畸形骨发育不良原始侏儒症（MOPD-II）常常与中心体基因的突变有关。在本章中，我们将讨论发育过程中中心体功能障碍的后果，以及它们如何导致人类疾病的病因。
