期刊
JOURNAL OF PERSONALIZED MEDICINE
卷 12, 期 10, 页码 -出版社
MDPI
DOI: 10.3390/jpm12101752
关键词
SatIII; satellite repeat; ribosomal repeat; rDNA; CNV; stress response; copy number
Copy number variation of ribosomal DNA and pericentromeric satellite repeats can modulate the stress response and have phenotypic manifestations, indicating the importance of individual data measurement.
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.
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