Porokhovnik Lev N
Laboratory of Molecular Biology, Research Centre for Medical Genetics, 1 Moskvorechye, 115522 Moscow, Russia.
J Pers Med. 2022 Oct 21;12(10):1752. doi: 10.3390/jpm12101752.
The ribosomal DNA and pericentromeric satellite repeats are two important types of moderately repeated sequences existing in the human genome. They are functionally involved in the universal stress response. There is accumulating evidence that the copy number variation (CNV) of the repeat units is a novel factor modulating the stress response and, thus, has phenotypic manifestations. The ribosomal repeat copy number plays a role in stress resistance, lifespan, in vitro fertilization chances, disease progression and aging, while the dynamics of the satellite copy number are a sort of indicator of the current stress state. Here, we review some facts showing that a combined assay of rDNA and SatII/III abundance can provide valuable individual data ("stress profile") indicating not only the inherited adaptive reserve but also the stress duration and acute or chronic character of the stress. Thus, the repeat count could have applications in personalized medicine in the future.
核糖体DNA和着丝粒周围卫星重复序列是人类基因组中存在的两种重要的中度重复序列类型。它们在功能上参与普遍应激反应。越来越多的证据表明,重复单元的拷贝数变异(CNV)是调节应激反应的一个新因素,因此具有表型表现。核糖体重复拷贝数在抗逆性、寿命、体外受精机会、疾病进展和衰老中起作用,而卫星拷贝数的动态变化是当前应激状态的一种指标。在这里,我们回顾一些事实,表明核糖体DNA和SatII/III丰度的联合检测可以提供有价值的个体数据(“应激图谱”),不仅可以表明遗传的适应性储备,还可以表明应激的持续时间以及应激的急性或慢性特征。因此,重复计数在未来的个性化医疗中可能会有应用。