Dermatology Research Centre, University of Queensland, School of Medicine, Princess Alexandra Hospital, Brisbane, Australia.
Australas J Dermatol. 2013 Feb;54(1):1-8. doi: 10.1111/j.1440-0960.2012.00883.x. Epub 2012 Apr 16.
High throughput molecular biology began around the mid-1990s with the introduction of microarrays - a technology that enabled investigators to quantify the cellular expression levels of tens of thousands of mRNA transcripts simultaneously. To date, a large number of microarray experiments have been performed in the investigation of RNA expression signatures in normal and pathological tissues. This review focuses on a next generation tool in high throughput investigation: RNA sequencing or RNA-Seq, highlighting its advantages over traditional microarray investigation and discussing its utility in investigative dermatology. In contrast with the results obtained from microarray experiments, RNA-Seq generates mRNA abundance counts, can identify novel transcripts and splice variants, and provides sequence resolution at the level of single base-pairs. Implementing RNA-Seq in the investigation of skin disease will yield novel insights into the pathogenesis of disease, will facilitate the discovery of new diseases and new mechanisms of disease, and will allow researchers to probe genetic disease in high resolution and with unprecedented efficiency.
高通量分子生物学始于 20 世纪 90 年代中期,当时引入了微阵列 - 一种能够同时定量检测数万种 mRNA 转录本细胞表达水平的技术。迄今为止,大量的微阵列实验已经用于研究正常和病理组织中的 RNA 表达特征。本篇综述聚焦于高通量研究中的下一代工具:RNA 测序或 RNA-Seq,突出其相对于传统微阵列研究的优势,并讨论其在皮肤科研究中的应用。与微阵列实验的结果相比,RNA-Seq 生成 mRNA 丰度计数,能够鉴定新的转录本和剪接变体,并提供单碱基对水平的序列分辨率。在皮肤疾病研究中实施 RNA-Seq 将为疾病的发病机制提供新的见解,有助于发现新的疾病和疾病机制,并使研究人员能够以高分辨率和前所未有的效率探究遗传疾病。