Schueler Mary G, Sullivan Beth A
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Annu Rev Genomics Hum Genet. 2006;7:301-13. doi: 10.1146/annurev.genom.7.080505.115613.
Centromeres are the elements of chromosomes that assemble the proteinaceous kinetochore, maintain sister chromatid cohesion, regulate chromosome attachment to the spindle, and direct chromosome movement during cell division. Although the functions of centromeres and the proteins that contribute to their complex structure and function are conserved in eukaryotes, centromeric DNA diverges rapidly. Human centromeres are particularly complicated. Here, we review studies on the organization of homogeneous arrays of chromosome-specific alpha-satellite repeats and evolutionary links among eukaryotic centromeric sequences. We also discuss epigenetic mechanisms of centromere identity that confer structural and functional features of the centromere through DNA-protein interactions and post-translational modifications, producing centromere-specific chromatin signatures. The assembly and organization of human centromeres, the contributions of satellite DNA to centromere identity and diversity, and the mechanism whereby centromeres are distinguished from the rest of the genome reflect ongoing puzzles in chromosome biology.
着丝粒是染色体的组成部分,它组装蛋白质性的动粒,维持姐妹染色单体的黏连,调节染色体与纺锤体的附着,并在细胞分裂期间指导染色体移动。尽管着丝粒的功能以及有助于其复杂结构和功能的蛋白质在真核生物中是保守的,但着丝粒DNA却迅速分化。人类着丝粒尤其复杂。在此,我们综述了关于染色体特异性α-卫星重复序列的同质阵列组织以及真核生物着丝粒序列之间进化联系的研究。我们还讨论了着丝粒身份的表观遗传机制,该机制通过DNA-蛋白质相互作用和翻译后修饰赋予着丝粒结构和功能特征,从而产生着丝粒特异性的染色质特征。人类着丝粒的组装和组织、卫星DNA对着丝粒身份和多样性的贡献,以及着丝粒与基因组其他部分区分开来的机制,都反映了染色体生物学中仍存在的谜题。