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Abstract：
Normal mammalian palatogenesis is a complex process that requires the occurrence of a tightly regulated series of specific and sequentially regulated cellular events. Cleft lip/palate (CLP), the most frequent craniofacial malformation birth defects, may occur if any of these events undergo abnormal interference. Such defects not only affect the patients, but also pose a financial risk for the families. In our recent study, the miniature pig was shown to be a valuable alternative large animal model for exploring human palate development by histology. However, few reports exist in the literature to document gene expression and function during swine palatogenesis. To better understand the genetic regulation of palate development, an mRNA expression profiling analysis was performed on miniature pigs, Sus scrofa. Five key developmental stages of miniature pigs from embryonic days (E) 30-50 were selected for transcriptome sequencing. Gene expression profiles in different palate development stages of miniature pigs were identified. Nine hundred twenty significant differentially expressed genes were identified, and the functional characteristics of these genes were determined by gene ontology (GO) function and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis. Some of these genes were associated with HH (hedgehog), WNT (wingless-type mouse mammary tumor virus integration site family), and MAPK (mitogen-activated protein kinase) signaling, etc., which were shown in the literature to affect palate development, while some genes, such as HIP (hedgehog interacting protein), WNT16, MAPK10, and LAMC2 (laminin subunit gamma 2), were additions to the current understanding of palate development. The present study provided a comprehensive analysis for understanding the dynamic gene regulation during palate development and provided potential ideas and resources to further study normal palate development and the etiology of cleft palate.
摘要：
正常的哺乳动物腭生是一个复杂的过程，需要发生一系列严格调节的特定和顺序调节的细胞事件。唇裂/腭裂(CLP),最常见的颅面畸形出生缺陷，如果这些事件中的任何一个受到异常干扰，则可能会发生。这种缺陷不仅影响患者，但也给家庭带来财务风险。在我们最近的研究中,小型猪被证明是一种有价值的替代大型动物模型，用于通过组织学探索人类的腭发育。然而,在文献中很少有报道记载猪腭生中的基因表达和功能。为了更好地理解腭发育的遗传调控，对小型猪进行了mRNA表达谱分析，Susscrofa.选择来自胚胎天(E)30-50的小型猪的五个关键发育阶段用于转录组测序。鉴定了小型猪不同腭发育阶段的基因表达谱。鉴定了九百二十个显著的差异表达基因，并通过基因本体论（GO）功能和京都基因和基因组百科全书（KEGG）途径分析确定了这些基因的功能特征。其中一些基因与HH（刺猬）有关，WNT（无翼型小鼠乳腺肿瘤病毒整合位点家族），和MAPK（丝裂原活化蛋白激酶）信号，等。,这在文献中被证明会影响腭发育，而一些基因，如HIP（刺猬相互作用蛋白），WNT16，MAPK10和LAMC2（层粘连蛋白亚基γ2），是对目前对腭发育的理解的补充。本研究为了解腭发育过程中的动态基因调控提供了全面的分析，为进一步研究正常腭发育和腭裂的病因提供了潜在的思路和资源。
