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Repetitive DNA loci and their modulation by the non-canonical nucleic acid structures R-loops and G-quadruplexes

机译:重复DNA基因座及其通过非规范核酸结构R-环和G-四翻转的调节

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摘要

Cells have evolved intricate mechanisms to maintain genome stability despite allowing mutational changes to drive evolutionary adaptation. Repetitive DNA sequences, which represent the bulk of most genomes, are a major threat to genome stability often driving chromosome rearrangements and disease. The major source of repetitive DNA sequences and thus the most vulnerable constituents of the genome are the rDNA (rDNA) repeats, telomeres, and transposable elements. Maintaining the stability of these loci is critical to overall cellular fitness and lifespan. Therefore, cells have evolved mechanisms to regulate rDNA copy number, telomere length and transposon activity, as well as DNA repair at these loci. In addition, non-canonical structure-forming DNA motifs can also modulate the function of these repetitive DNA loci by impacting their transcription, replication, and stability. Here, we discuss key mechanisms that maintain rDNA repeats, telomeres, and transposons in yeast and human before highlighting emerging roles for non-canonical DNA structures at these repetitive loci.
机译:尽管允许突变变化以驱动进化适应,但细胞已经进化了复杂机制以维持基因组稳定性。代表大多数基因组的重复DNA序列是对基因组稳定性经常促进染色体重排和疾病的主要威胁。重复性DNA序列的主要来源,从而是基因组的最脆弱的成分是RDNA(RDNA)重复,端粒和转换元件。保持这些基因座的稳定性对整体蜂窝健身和寿命至关重要。因此,细胞具有调节rDNA拷贝数,端粒长度和转座子活性的机制,以及这些基因座的DNA修复。此外,非规范结构形成DNA基序也可以通过影响其转录,复制和稳定来调节这些重复DNA基因座的功能。在这里,我们讨论在突出这些重复基因座上的非规范DNA结构的新出现作用之前,讨论维持酵母和人中的rDNA重复,端粒剂和转座子的关键机制。

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