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Gene expression in Meckel's and condylar cartilages from WT and FGFR3 mutant mice

ABSTRACT: Meckel's and condylar cartilages are key to mandible development. In achondroplasia, the most common form of genetic dwarfism, abnormalities of these cartilages lead to micrognathia, with significant functional repercussions for affected individuals. Using cartilage laser-microdissection and RNA-seq analyses, we analyzed the genes expressed in these cartilages in a mouse model mimicking achondroplasia and compared the transcriptome of Meckel’s and condylar cartilages from E16.5 embryos of control and Fgfr3Y367C/+ mice. Over 600 genes were differentially expressed. Our data suggest that dysregulation of several pathways due to Fgfr3 gain-of function mutation constitutes an important underlying mechanism in craniofacial defects observed in achondroplasia.

ORGANISM(S): Mus musculus

PROVIDER: GSE308380 | GEO | 2026/03/22

REPOSITORIES: GEO

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Project description:Objective The purpose of this study was to find the key regulatory genes and proteins in condylar ossification of temporomandibular joint (TMJ) by transcriptomics and proteomics in porcine embryos. Method A total of 12 miniature pig embryos (6 in each group) at E45 and E85 days were used in this study. Six embryos for tissue sections (3 in each group) . The remaining six embryos were cut down the condyle along the parallel line between the lowest point of the sigmoid notch and the highest point of the condyle, and each condylar tissue sample was divided into two parts averagely. After RNA extraction, library construction and sequencing, one part tissue was analyzed by mapping to compare the differential expression of mRNA before and after ossification of embryonic condylar tissue. Another tissue was analyzed by protein extraction, enzymolysis and mass spectrometry to compare the differential expression of protein before and after ossification of embryonic condylar tissue. Finally, the differential genes and proteins were analyzed by GO and KEGG enrichment analysis. The differentially expressed genes in transcriptome and proteomic analysis were verified by QPCR. Result A total of 25322 genes were detected by transcriptome analysis, and there were 19584 differential genes between E85 days and E45 days. There are 1592 differential genes were screened to meet the Fold change≥2 or ≤0.5 of which 1086 genes were up-regulated and 506 genes were down-regulated in E85 days compared with E45 days. A total of 4613 proteins were detected by proteomic analysis, there were 419 differential proteins between E85 and E45 days, including 313 up-regulated proteins and 106 down-regulated proteins. A total of 37 differentially expressed genes/proteins were found by cross transcriptome and proteomic analysis. QPCR analysis showed that 13 of 15 genes were consistent with transcriptome analysis. Conclusion Condylar transcriptome and proteomic analysis during the development of temporomandibular joint in miniature pigs revealed the regulatory genes/proteins of condylar ossification. These regulatory genes/proteins can provide basic data for human TMJ development research and disease treatment.

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Gene expression in Meckel's and condylar cartilages from WT and FGFR3 mutant mice

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