The Second Clinical Medicine School, Southern Medical University, Guangzhou, Guangdong, China.
Emergency Department, Zhujiang Hospital of Southern Medical University, Industrial Avenue, Haizhu District, No. 253, Guangzhou, 510280, Guangdong, China.
Biochem Genet. 2023 Aug;61(4):1334-1350. doi: 10.1007/s10528-022-10323-3. Epub 2022 Dec 31.
Crim1 has been implicated in cataracts in mice and is of great importance in the development of the eye in both humans and mice. Therefore, we aimed to clarify how Crim1 mutations affect lens development and the molecular mechanism of cataracts in mice through comprehensive bioinformatics analysis. The microarray chip was downloaded from the GEO database to obtain the gene expression profile data set. Differentially expressed genes (DEGs) were screened using the limma package. GO and KEGG analyses of DEGs were performed using the DAVID database. Then, we established the protein-protein interaction (PPI) network in Cytoscape. Next, we used MCODE to analyze the data. We obtained 750 DEGs in total, including 407 upregulated DEGs and 343 downregulated DEGs. GO analysis showed that the DEGs were mainly related to biological processes, such as apoptosis, cell translation and the immune system. KEGG analysis showed that the enriched functions and pathways were related to the processing and presentation of ribosomes, lysosomes, and antigens. We identified 18 HUB genes, among which four core genes, C1qa, C1qb, C1qc, and Cd74, were closely related to congenital cataracts induced by Crim1 mutation. This study reveals the molecular pathogenesis of congenital cataracts induced by Crim1, and this information is expected to facilitate clinical genetic testing, molecular diagnosis, prognosis, and individualized chemotherapy for congenital cataracts (CC).
Crim1 已被牵连到小鼠白内障中,并且在人类和小鼠的眼睛发育中具有重要意义。因此,我们旨在通过综合生物信息学分析,阐明 Crim1 突变如何影响晶状体发育以及导致小鼠白内障的分子机制。我们从 GEO 数据库下载微阵列芯片,以获取基因表达谱数据集。使用 limma 包筛选差异表达基因 (DEGs)。使用 DAVID 数据库对 DEGs 进行 GO 和 KEGG 分析。然后,我们在 Cytoscape 中构建蛋白质-蛋白质相互作用 (PPI) 网络。接下来,我们使用 MCODE 对数据进行分析。我们总共获得了 750 个 DEGs,其中包括 407 个上调 DEGs 和 343 个下调 DEGs。GO 分析表明,DEGs 主要与生物过程有关,如细胞凋亡、细胞翻译和免疫系统。KEGG 分析表明,富集的功能和途径与核糖体、溶酶体和抗原的加工和呈递有关。我们鉴定了 18 个 HUB 基因,其中 4 个核心基因 C1qa、C1qb、C1qc 和 Cd74 与 Crim1 突变引起的先天性白内障密切相关。本研究揭示了 Crim1 引起的先天性白内障的分子发病机制,这些信息有望促进先天性白内障的临床遗传检测、分子诊断、预后和个体化化疗 (CC)。