Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, 230032, Anhui, China.
Institute of Dermatology, Anhui Medical University, Hefei, 230032, Anhui, China.
Arch Dermatol Res. 2024 Aug 19;316(8):538. doi: 10.1007/s00403-024-03283-8.
Generalized pustular psoriasis (GPP) is a rare but severe form of psoriasis. However, the pathogenesis of GPP has not been fully elucidated. Although RNA-binding proteins (RBPs) and the alternative splicing (AS) process are essential for regulating post-transcriptional gene expression, their roles in GPP are still unclear. We aimed to elucidate the regulatory mechanisms to identify potential new therapeutic targets. Here, We analyzed an RNA sequencing (RNA-seq) dataset (GSE200977) of peripheral blood mononuclear cells (PBMCs) of 24 patients with GPP, psoriasis vulgaris (PV), and healthy controls (HCs) from the Gene Expression Omnibus (GEO) database. We found that the abnormal alternative splicing (AS) events associated with GPP were mainly "alt3p/alt5p", and 15 AS genes were differentially expressed. Notably, the proportions of different immune cell types were correlated with the expression levels of regulatory alternatively spliced genes (RASGs): significant differences were observed in expression levels of DTD2, NDUFAF3, NBPF15, and FBLN7 in B cells and ARFIP1, IPO11, and RP11-326L24.9 in neutrophils in the GPP samples. Furthermore, We identified 32 differentially expressed RNA-binding proteins (RBPs) (18 up-regulated and 14 down-regulated). Co-expression networks between 14 pairs of differentially expressed RBPs and RASGs were subsequently constructed, demonstrating that these differentially expressed RBPs may affect the progression of GPP by regulating the AS of downstream immune/inflammatory-related genes such as LINC00989, ENC1 and MMP25-AS1. Our results were innovative in revealing the involvement of inflammation-related RBPs and RASGs in the development of GPP from the perspective of RBP-regulated AS.
全身性脓疱型银屑病(GPP)是一种罕见但严重的银屑病形式。然而,GPP 的发病机制尚未完全阐明。虽然 RNA 结合蛋白(RBPs)和可变剪接(AS)过程对于调节转录后基因表达至关重要,但它们在 GPP 中的作用仍不清楚。我们旨在阐明调控机制,以确定潜在的新治疗靶点。在这里,我们分析了来自基因表达综合数据库(GEO)的 24 例 GPP、寻常型银屑病(PV)和健康对照(HC)患者外周血单个核细胞(PBMC)的 RNA 测序(RNA-seq)数据集(GSE200977)。我们发现与 GPP 相关的异常可变剪接(AS)事件主要是“alt3p/alt5p”,有 15 个 AS 基因差异表达。值得注意的是,不同免疫细胞类型的比例与调节性可变剪接基因(RASG)的表达水平相关:在 GPP 样本中,B 细胞中 DTD2、NDUFAF3、NBPF15 和 FBLN7 以及中性粒细胞中 ARFIP1、IPO11 和 RP11-326L24.9 的表达水平存在显著差异。此外,我们鉴定出 32 个差异表达的 RNA 结合蛋白(RBPs)(18 个上调,14 个下调)。随后构建了 14 对差异表达的 RBPs 和 RASGs 之间的共表达网络,表明这些差异表达的 RBPs 可能通过调节下游免疫/炎症相关基因(如 LINC00989、ENC1 和 MMP25-AS1)的 AS 来影响 GPP 的进展。我们的研究结果从 RBP 调节的 AS 角度揭示了炎症相关 RBPs 和 RASGs 参与 GPP 发生发展的创新性。