Nevone Alice, Lattarulo Francesca, Russo Monica, Panno Giada, Milani Paolo, Basset Marco, Avanzini Maria Antonietta, Merlini Giampaolo, Palladini Giovanni, Nuvolone Mario
Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Biomedicines. 2023 Apr 3;11(4):1079. doi: 10.3390/biomedicines11041079.
In the next-generation sequencing era, RT-qPCR is still widely employed to quantify levels of nucleic acids of interest due to its popularity, versatility, and limited costs. The measurement of transcriptional levels through RT-qPCR critically depends on reference genes used for normalization. Here, we devised a strategy to select appropriate reference genes for a specific clinical/experimental setting based on publicly available transcriptomic datasets and a pipeline for RT-qPCR assay design and validation. As a proof-of-principle, we applied this strategy to identify and validate reference genes for transcriptional studies of bone-marrow plasma cells from patients with AL amyloidosis. We performed a systematic review of published literature to compile a list of 163 candidate reference genes for RT-qPCR experiments employing human samples. Next, we interrogated the Gene Expression Omnibus to assess expression levels of these genes in published transcriptomic studies on bone-marrow plasma cells from patients with different plasma cell dyscrasias and identified the most stably expressed genes as candidate normalizing genes. Experimental validation on bone-marrow plasma cells showed the superiority of candidate reference genes identified through this strategy over commonly employed "housekeeping" genes. The strategy presented here may apply to other clinical and experimental settings for which publicly available transcriptomic datasets are available.
在下一代测序时代,由于其普及性、多功能性和成本有限,逆转录定量聚合酶链反应(RT-qPCR)仍被广泛用于定量感兴趣的核酸水平。通过RT-qPCR测量转录水平关键取决于用于标准化的参考基因。在此,我们设计了一种策略,基于公开可用的转录组数据集以及RT-qPCR检测设计和验证流程,为特定临床/实验环境选择合适的参考基因。作为原理验证,我们应用此策略来鉴定和验证用于AL淀粉样变性患者骨髓浆细胞转录研究的参考基因。我们对已发表的文献进行了系统综述,以编制一份用于使用人类样本的RT-qPCR实验的163个候选参考基因列表。接下来,我们查询了基因表达综合数据库(Gene Expression Omnibus),以评估这些基因在已发表的关于不同浆细胞发育异常患者骨髓浆细胞转录组研究中的表达水平,并将表达最稳定的基因鉴定为候选标准化基因。对骨髓浆细胞的实验验证表明,通过该策略鉴定的候选参考基因优于常用的“管家”基因。本文提出的策略可能适用于有公开可用转录组数据集的其他临床和实验环境。