Department of Molecular & Cell Biology, University of California, Berkeley, CA, USA.
Semin Cell Dev Biol. 2022 Aug;128:2-14. doi: 10.1016/j.semcdb.2022.04.012. Epub 2022 Apr 27.
The classical human satellite DNAs, also referred to as human satellites 1, 2 and 3 (HSat1, HSat2, HSat3, or collectively HSat1-3), occur on most human chromosomes as large, pericentromeric tandem repeat arrays, which together constitute roughly 3% of the human genome (100 megabases, on average). Even though HSat1-3 were among the first human DNA sequences to be isolated and characterized at the dawn of molecular biology, they have remained almost entirely missing from the human genome reference assembly for 20 years, hindering studies of their sequence, regulation, and potential structural roles in the nucleus. Recently, the Telomere-to-Telomere Consortium produced the first truly complete assembly of a human genome, paving the way for new studies of HSat1-3 with modern genomic tools. This review provides an account of the history and current understanding of HSat1-3, with a view towards future studies of their evolution and roles in health and disease.
经典的人类卫星 DNA,也被称为人类卫星 1、2 和 3(HSat1、HSat2、HSat3,或统称为 HSat1-3),作为大型的着丝粒周围串联重复阵列存在于大多数人类染色体上,它们共同构成了人类基因组的大约 3%(平均约 100 兆碱基对)。尽管 HSat1-3 是分子生物学诞生之初首批被分离和鉴定的人类 DNA 序列之一,但它们在人类基因组参考组装中几乎完全缺失了 20 年,这阻碍了对它们序列、调控以及在核内潜在结构作用的研究。最近,端粒到端粒联合会(Telomere-to-Telomere Consortium)首次完成了人类基因组的真正完整组装,为使用现代基因组工具研究 HSat1-3 铺平了道路。本文回顾了 HSat1-3 的历史和当前认识,以期对其进化及其在健康和疾病中的作用进行未来研究。