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α satellite DNA variation and function of the human centromere

机译：α卫星DNA变异与人类着丝粒的功能

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Genomic variation is a source of functional diversity that is typically studied in genic and non-coding regulatory regions. However, the extent of variation within noncoding portions of the human genome, particularly highly repetitive regions, and the functional consequences are not well understood. Satellite DNA, including α satellite DNA found at human centromeres, comprises up to 10% of the genome, but is difficult to study because its repetitive nature hinders contiguous sequence assemblies. We recently described variation within α satellite DNA that affects centromere function. On human chromosome 17 (HSA17), we showed that size and sequence polymorphisms within primary array D17Z1 are associated with chromosome aneuploidy and defective centromere architecture. However, HSA17 can counteract this instability by assembling the centromere at a second, “backup” array lacking variation. Here, we discuss our findings in a broader context of human centromere assembly, and highlight areas of future study to uncover links between genomic and epigenetic features of human centromeres.
机译：基因组变异是功能多样性的来源，通常在基因和非编码调控区域进行研究。然而，人们基因组的非编码部分，特别是高度重复的区域内的变异程度以及功能后果尚不十分清楚。卫星DNA（包括在人类着丝粒处发现的α卫星DNA）占基因组的比例高达10％，但由于其重复性阻碍了连续的序列装配，因此难以研究。我们最近描述了影响着丝粒功能的α卫星DNA内的变异。在人类17号染色​​体（HSA17）上，我们显示了初级阵列D17Z1中的大小和序列多态性与染色体非整倍性和缺陷着丝粒结构有关。但是，HSA17可以通过在没有变化的第二个“备用”阵列上组装着丝粒来抵消这种不稳定性。在这里，我们将在更广泛的人类着丝粒组装背景下讨论我们的发现，并着重指出未来研究的领域，以揭示人类着丝粒的基因组特征与表观遗传特征之间的联系。

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