Emerging Technologies for Genome-Wide Profiling of DNA Breakage.
Emerging Technologies for Genome-Wide Profiling of DNA Breakage.
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DNA 断裂全基因组分析的新兴技术
DOI：
10.3389/fgene.2020.610386
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发表时间：
2020
影响因子：
3.7
通讯作者：
Zeier Z
中科院分区：
文献类型：
--
作者：
Rybin MJ;Ramic M;Ricciardi NR;Kapranov P;Wahlestedt C;Zeier Z
基因组不稳定性与无数人类疾病相关，并且是癌症和神经退行性疾病的众所周知的特征。直到最近，评估DNA损伤（基因组不稳定性的主要驱动力）的能力仅限于相对不精确的方法或仅限于研究预定义的基因组区域。最近，出现了利用具有单核苷酸分辨率的全基因组规模的下一代测序来检测DNA双链断裂（DSB）和单链断裂（SSB）的新技术。有了这些新工具，人们正在努力定义正常衰老和疾病中的“断裂”。在这里，我们比较了这些技术的相对优势和劣势，以及它们在研究神经退行性疾病中的潜在应用。
Genome instability is associated with myriad human diseases and is a well-known feature of both cancer and neurodegenerative disease. Until recently, the ability to assess DNA damage—the principal driver of genome instability—was limited to relatively imprecise methods or restricted to studying predefined genomic regions. Recently, new techniques for detecting DNA double strand breaks (DSBs) and single strand breaks (SSBs) with next-generation sequencing on a genome-wide scale with single nucleotide resolution have emerged. With these new tools, efforts are underway to define the “breakome” in normal aging and disease. Here, we compare the relative strengths and weaknesses of these technologies and their potential application to studying neurodegenerative diseases.