title: Bioinformatic analysis of Msx1 and Msx2 involved in craniofacial development.
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.
authors.affiliation: From 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.
authors.forename: Jiewen
authors.initials: J
authors.lastname: Dai
authors.forename: Zhifang
authors.initials: Z
authors.lastname: Mou
authors.forename: Shunyao
authors.initials: S
authors.lastname: Shen
authors.forename: Yuefu
authors.initials: Y
authors.lastname: Dong
authors.forename: Tong
authors.initials: T
authors.lastname: Yang
authors.forename: Steve Guofang
authors.initials: SG
authors.lastname: Shen
mesh_terms: D000483:Alleles; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D019295:Computational Biology; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D056726:Genetic Association Studies; D055106:Genome-Wide Association Study; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human; C084119:MSX2 protein