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单细胞测序纳米孔技术时代的表观遗传肿瘤异质性。

Epigenetic tumor heterogeneity in the era of single-cell profiling with nanopore sequencing.

机构信息

Department of Medical Biochemistry, School of Medicine, College of Health Sciences, Addis Ababa University, P.O. Box: 9086, Addis Ababa, Ethiopia.

Department of Medical Biochemistry, School of Medicine, St. Paul's Hospital, Millennium Medical College, Addis Ababa, Ethiopia.

出版信息

Clin Epigenetics. 2022 Aug 27;14(1):107. doi: 10.1186/s13148-022-01323-6.

DOI:10.1186/s13148-022-01323-6
PMID:36030244
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9419648/
Abstract

Nanopore sequencing has brought the technology to the next generation in the science of sequencing. This is achieved through research advancing on: pore efficiency, creating mechanisms to control DNA translocation, enhancing signal-to-noise ratio, and expanding to long-read ranges. Heterogeneity regarding epigenetics would be broad as mutations in the epigenome are sensitive to cause new challenges in cancer research. Epigenetic enzymes which catalyze DNA methylation and histone modification are dysregulated in cancer cells and cause numerous heterogeneous clones to evolve. Detection of this heterogeneity in these clones plays an indispensable role in the treatment of various cancer types. With single-cell profiling, the nanopore sequencing technology could provide a simple sequence at long reads and is expected to be used soon at the bedside or doctor's office. Here, we review the advancements of nanopore sequencing and its use in the detection of epigenetic heterogeneity in cancer.

摘要

纳米孔测序将测序科学推向了一个新的高度。这是通过以下研究进展实现的:提高孔效率、开发控制 DNA 易位的机制、提高信噪比、扩大长读长范围。关于表观遗传学的异质性将非常广泛,因为表观基因组中的突变容易给癌症研究带来新的挑战。催化 DNA 甲基化和组蛋白修饰的表观遗传酶在癌细胞中失调,导致许多异质克隆进化。在这些克隆中检测这种异质性在各种癌症类型的治疗中起着不可或缺的作用。通过单细胞分析,纳米孔测序技术可以提供长读长的简单序列,并有望很快在床边或医生办公室使用。在这里,我们综述了纳米孔测序的进展及其在癌症中检测表观遗传异质性的应用。

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