Identification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data

التفاصيل البيبلوغرافية
العنوان: Identification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data
المؤلفون: Li He, Hai Jiang, Wusheng Miao, Yongtao Wu, Bing Wang, Jining Qu, Ge Wu, Min Li
المصدر: International Journal of Molecular Medicine
بيانات النشر: Spandidos Publications, 2017.
سنة النشر: 2017
مصطلحات موضوعية: 0301 basic medicine, differentially expressed genes, XBP1, Schmid-type metaphyseal chondrodysplasia, Gene regulatory network, Ribosome biogenesis, Biology, Osteochondrodysplasias, 03 medical and health sciences, Transcription (biology), Genetics, Humans, Gene Regulatory Networks, Protein Interaction Maps, Transcription factor, Gene, Microarray analysis techniques, Gene Expression Profiling, Articles, functional enrichment analysis, General Medicine, Gene expression profiling, 030104 developmental biology, protein-protein interaction network, Metabolic Networks and Pathways, Transcription Factors
الوصف: This study aimed to gain a better understanding of the molecular circuitry of Schmid-type metaphyseal chondrodysplasia (SMCD), and to identify more potential genes associated with the pathogenesis of SMCD. Microarray data from GSE72261 were downloaded from the NCBI GEO database, including collagen X p.Asn617Lys knock-in mutation (ColXN617K), ablated XBP1 activity (Xbp1CartΔEx2), compound mutant (C/X), and wild-type (WT) specimens. Differentially expressed genes (DEGs) were screened in Xbp1 vs. WT, Col vs. WT and CX vs. WT, respectively. Pathway enrichment analysis of these DEGs was performed. Transcription factors (TFs) of the overlapping DEGs were identified. Weighted correlation network analysis (WGCNA) was performed to find modules of DEGs with high correlations, followed by gene function analysis and a protein-protein interaction network construction. In total, 481, 1,530 and 1,214 DEGs were identified in Xbp1 vs. WT, Col vs. WT and CX vs. WT, respectively. These DEGs were enriched in different pathways, such as extracellular matrix (ECM)-receptor interaction and metabolism-related pathways. A total of 7 TFs were found to regulate 19 common upregulated genes, and 4 TFs were identified to regulate 21 common downregulated genes. Two significant gene co-expression modules were enriched and DEGs in the 2 modules were mainly enriched in different biological processes, such as ribosome biogenesis. Moreover, Kras (downregulated), Col5a1 (upregulated) and Furin (upregulated) were both identified in the regulatory networks and protein-protein interaction (PPI) network. On the whole, our findings indicate that the Kras, Col5a1 and Furin genes may play essential roles in the molecular mechanisms of SMCD, which warrants further investigation.
تدمد: 1791-244X
1107-3756
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a698846ac8f917ba77a54f50ba3ab19
https://doi.org/10.3892/ijmm.2017.2954
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....0a698846ac8f917ba77a54f50ba3ab19
قاعدة البيانات: OpenAIRE