Bioinformatic Analysis of Msx1 and Msx2 Involved in Craniofacial Development
Bioinformatic Analysis of Msx1 and Msx2 Involved in Craniofacial Development
复制标题
Msx1和Msx2参与颅面发育的生物信息学分析
DOI：
10.1097/scs.0000000000000373
复制
发表时间：
2014-01-01
影响因子：
0.9
通讯作者：
Shen, Steve Guofang
中科院分区：
文献类型：
--
作者：
Dai, Jiewen;Mou, Zhifang;Shen, Steve Guofang
摘要msx1和Msx2是一些颅面畸形的候选基因，如唇裂伴/不伴腭裂（CL/P）和颅缝紧闭。许多其他基因被证明与MSX基因在引起这些缺陷方面有串扰。然而，目前还没有对这些MSX基因相关因素的系统评价。在本研究中，我们结合genedacs、DAVID和STRING数据库对MSX基因进行了系统的生物信息学分析，结果显示有许多与MSX基因相关的基因，如Irf6、TP63、Dlx2、Dlx5、Pax3、Pax9、Bmp4、tgf - β 2和tgf - β 3已被证实与CL/P有关，Fgfr2、Fgfr1、Fgfr3和Twist1与颅缝紧闭有关。其中许多基因可以富集成不同的基因群，参与不同的信号通路、不同的颅面畸形和不同的生物过程。这些发现可以帮助我们分析MSX基因在基因网络中的功能。此外，我们的研究结果表明，Sumo是一个新的基因，其多态性被全基因组关联研究证明与非综合征性CL/P相关，与MSX1存在蛋白-蛋白相互作用，这可能为我们提供一种对全基因组关联研究发现的基因进行生物信息学分析的替代方法，并可以预测由于基因DNA序列突变而导致的蛋白质功能中断。这些发现可能指导我们在未来进行进一步的功能研究。
AbstractMsx1 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.