Centromeres are central to chromosome segregation and genome stability, and thus their molecular foundations are important for understanding their function and the ways in which they go awry. Human centromeres typically form at large megabase-sized arrays of alpha satellite DNA for which there is little genomic understanding due to its repetitive nature. Consequently, it has been difficult to achieve genome assemblies at centromeres using traditional next generation sequencing approaches, so that centromeres represent gaps in the current human genome assembly. The role of alpha satellite DNA has been debated since centromeres can form, albeit rarely, on non-alpha satellite DNA. Conversely, the simple presence of alpha satellite DNA is not sufficient for centromere function since chromosomes with multiple alpha satellite arrays only exhibit a single location of centromere assembly. Here, we discuss the organization of human centromeres as well as genomic and functional variation in human centromere location, and current understanding of the genomic and epigenetic mechanisms that underlie centromere flexibility in humans.

中文翻译：

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人类着丝粒的基因组和功能变异。


着丝粒对于染色体分离和基因组稳定性至关重要，因此它们的分子基础对于理解它们的功能以及它们出错的方式非常重要。人类着丝粒通常形成于大型兆碱基大小的α卫星DNA阵列中，由于其重复性质，人们对其基因组了解甚少。因此，使用传统的下一代测序方法很难在着丝粒处实现基因组组装，因此着丝粒代表了当前人类基因组组装中的空白。 α卫星DNA的作用一直存在争议，因为着丝粒可以在非α卫星DNA上形成（尽管很少）。相反，α卫星DNA的简单存在不足以发挥着丝粒功能，因为具有多个α卫星阵列的染色体仅表现出着丝粒组装的单个位置。在这里，我们讨论人类着丝粒的组织以及人类着丝粒位置的基因组和功能变异，以及目前对人类着丝粒灵活性背后的基因组和表观遗传机制的理解。