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Updated: May 4, 2026
Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
Published on: January 17, 2025
Bioinformatic analysis of Msx1 and Msx2 involved in craniofacial development
Jiewen Dai1, Zhifang Mou, Shunyao Shen
1From the *Department of Oral & Cranio-maxillofacial Science, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine,Shanghai Key Laboratory of Stomatology, Shanghai; and †Emergency Department and ‡Department of Orthopaedics, the First People's Hospital of Lian Yun Gang, Lianyungang, China.
Abstract:
Msx1 and Msx2 were revealed to be candidate genes for some craniofacial deformities, such as cleft lip with/without cleft palate (CL/P) and craniosynostosis. Many other genes were demonstrated to have a cross-talk with MSX genes in causing these defects. However, there is no systematic evaluation for these MSX gene-related factors. In this study, we performed systematic bioinformatic analysis for MSX genes by combining using GeneDecks, DAVID, and STRING database, and the results showed that there were numerous genes related to MSX genes, such as Irf6, TP63, Dlx2, Dlx5, Pax3, Pax9, Bmp4, Tgf-beta2, and Tgf-beta3 that have been demonstrated to be involved in CL/P, and Fgfr2, Fgfr1, Fgfr3, and Twist1 that were involved in craniosynostosis. Many of these genes could be enriched into different gene groups involved in different signaling ways, different craniofacial deformities, and different biological process. These findings could make us analyze the function of MSX gens in a gene network. In addition, our findings showed that Sumo, a novel gene whose polymorphisms were demonstrated to be associated with nonsyndromic CL/P by genome-wide association study, has protein-protein interaction with MSX1, which may offer us an alternative method to perform bioinformatic analysis for genes found by genome-wide association study and can make us predict the disrupted protein function due to the mutation in a gene DNA sequence. These findings may guide us to perform further functional studies in the future.
Insights
This study systematically analyzed MSX genes and their related factors in craniofacial deformities. It identified key genes involved in cleft lip/palate and craniosynostosis, revealing novel interactions for future research.
Area of Science:
- Genetics and Developmental Biology
- Bioinformatics
- Craniofacial Research
Background:
- Msx1 and Msx2 are candidate genes for craniofacial deformities like cleft lip/palate (CL/P) and craniosynostosis.
- Numerous genes interact with MSX genes in causing these defects, but a systematic evaluation is lacking.
Purpose of the Study:
- To conduct a systematic bioinformatic analysis of MSX genes and their related factors.
- To identify genes and pathways involved in CL/P and craniosynostosis.
- To explore novel gene interactions, such as SUMO with MSX1, for understanding genetic mutations.
Main Methods:
- Utilized GeneDecks, DAVID, and STRING databases for systematic bioinformatic analysis.
- Integrated gene interaction data with known craniofacial deformity associations.
- Investigated protein-protein interactions for novel gene discoveries.
Main Results:
- Identified numerous MSX gene-related factors, including IRF6, TP63, DLX2, DLX5, PAX3, PAX9, BMP4, TGF-β2, TGF-β3 for CL/P.
- Highlighted FGFR1, FGFR2, FGFR3, and TWIST1 involvement in craniosynostosis.
- Discovered a protein-protein interaction between SUMO and MSX1, relevant to nonsyndromic CL/P.
Conclusions:
- MSX gene networks are crucial in craniofacial development and deformity.
- Findings provide a basis for analyzing MSX gene functions within a broader network.
- The identified SUMO-MSX1 interaction offers a new avenue for bioinformatic analysis of GWAS data and mutation impact prediction.
