Repetitive DNA, formerly referred to by the misnomer "junk DNA," comprises a majority of the human genome. One class of this DNA, alpha satellite, comprises up to 10% of the genome. Alpha satellite is enriched at all human centromere regions and is competent for de novo centromere assembly. Because of the highly repetitive nature of alpha satellite, it has been difficult to achieve genome assemblies at centromeres using traditional next-generation sequencing approaches, and thus, centromeres represent gaps in the current human genome assembly. Moreover, alpha satellite DNA is transcribed into repetitive noncoding RNA and contributes to a large portion of the transcriptome. Recent efforts to characterize these transcripts and their function have uncovered pivotal roles for satellite RNA in genome stability, including silencing "selfish" DNA elements and recruiting centromere and kinetochore proteins. This review will describe the genomic and epigenetic features of alpha satellite DNA, discuss recent findings of noncoding transcripts produced from distinct alpha satellite arrays, and address current progress in the functional understanding of this oft-neglected repetitive sequence. We will discuss unique challenges of studying human satellite DNAs and RNAs and point toward new technologies that will continue to advance our understanding of this largely untapped portion of the genome.

中文翻译：

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Alpha卫星DNA生物学：在基因组的凹处发现功能。

重复的DNA以前称为“垃圾DNA”，是人类基因组的大部分。一类此类DNA，即alpha卫星，最多占基因组的10％。Alpha卫星在所有人类着丝粒区域都富集，并有能力进行从头着丝粒组装。由于alpha卫星的高度重复性，使用传统的下一代测序方法很难在着丝粒上实现基因组装配，因此着丝粒代表了当前人类基因组装配中的空白。此外，α卫星DNA被转录成重复的非编码RNA，并在转录组中占很大比例。表征这些转录物及其功能的最新努力已揭示了卫星RNA在基因组稳定性中的关键作用，包括沉默“ 并在对这一经常被忽略的重复序列的功能性理解中解决当前的进展。我们将讨论研究人类卫星DNA和RNA的独特挑战，并指出将继续加深我们对基因组这一大部分尚未开发的部分的理解的新技术。并在对这一经常被忽略的重复序列的功能性理解中解决当前的进展。我们将讨论研究人类卫星DNA和RNA的独特挑战，并指出将继续加深我们对基因组这一大部分尚未开发的部分的理解的新技术。