Department of Biomedical Sciences, Florida State University, College of Medicine, Tallahassee, USA.
Trends Cell Biol. 2011 Aug;21(8):470-80. doi: 10.1016/j.tcb.2011.04.007. Epub 2011 May 31.
Autosomal recessive primary microcephaly (MCPH) is characterized by small brain size as a result of deficient neuron production in the developing cerebral cortex. Although MCPH is a rare disease, the questions surrounding its etiology strike at the core of stem cell biology. The seven genes implicated in MCPH all encode centrosomal proteins and disruption of the MCPH gene Cdk5rap2 in mice revealed its role in neural progenitor proliferation and in maintaining normal centriole replication control. We discuss here the impact that centrosome regulation has upon neural progenitors in the developing brain. We integrate the impact of centriole replication defects with the functions of Cdk5rap2 and other MCPH proteins, propose mechanisms for progenitor loss in MCPH, and discuss links to two other microcephaly syndromes.
常染色体隐性原发性小头畸形(MCPH)的特征是大脑体积小,这是由于发育中的大脑皮层中神经元生成不足所致。虽然 MCPH 是一种罕见的疾病,但围绕其病因的问题却直击干细胞生物学的核心。七个与 MCPH 相关的基因均编码中心体蛋白,在小鼠中破坏 MCPH 基因 Cdk5rap2 揭示了其在神经祖细胞增殖和维持正常中心粒复制控制中的作用。我们在这里讨论中心体调节对发育中大脑中的神经祖细胞的影响。我们将中心粒复制缺陷的影响与 Cdk5rap2 和其他 MCPH 蛋白的功能结合起来,提出了 MCPH 中祖细胞丢失的机制,并讨论了与另外两种小头畸形综合征的联系。