mRNA sequencing provides new insights into the pathogenesis of Hirschsprung's disease in mice

Hirschsprung's disease (HSCR) is an intestinal development defect caused by multiple gene mutations. Under natural circumstances, the incidence in newborns is approximately 1/5000. It has been confirmed that Hirschsprung's disease is a neurocrest-derived disease, and disorders in the development and migration of neural crest cells may lead to the disease. To explore the key susceptibility genes in the development of Hirschsprung's disease, 8354 differentially expressed genes were identified by RNA sequencing in the colon tissues of EDNRB m1yzcm and wild mice, including 4346 upregulated genes and 4005 downregulated genes. Correspondingly, the results of RT–qPCR analysis showed good correlation with the transcriptome data. In addition, GO and KEGG enrichment results suggested that there were 8103 terms and 320 pathways in all DEGs. When P  < 0.05, 1081 GO terms and 320 KEGG pathways reached a significant level. Finally, through the existing studies and the enrichment results of differentially expressed genes, it was determined that axon guidance and the focal adhesion pathway may be closely related to the occurrence of HSCR. This study analyzed and identified the differential genes in colonic tissues between EDNRB m1yzcm mice and wild mice, which provided new insight for further mining the potential pathogenic genes of Hirschsprung's disease.