Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development
Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development
复制标题
DOI：
10.3858/emm.2009.41.2.010
复制
发表时间：
2009-02-28
影响因子：
12.8
通讯作者：
Tommerup, Niels
中科院分区：
文献类型：
--
作者：
Jakobsen, Linda P.;Borup, Rehannah;Tommerup, Niels
唇腭裂（CL/P）是一种常见的先天性畸形，其病因复杂，至今尚未完全阐明。流行病学研究指出唇腭裂亚组的不同病因，孤立性唇腭裂（CL），孤立性腭裂（CP）和唇腭裂联合（CLP）。为了更好地了解这些唇腭裂亚组的生物学基础，我们研究了CL/P患者的人体组织中的表达谱。在每个CL/P亚组中，从三名患者中获得样本并进行基因表达分析。此外，选择差异表达的基因进行了分析，通过定量RT-PCR，并通过免疫组化染色的颅面组织从人类胚胎。骨桥蛋白（SPP 1）和其他免疫相关基因显着更高的表达，从腭裂患者的腭组织相比，CP和免疫染色在腭架对SPP 1，趋化因子受体4（CXCR 4）和serglycin（PRG 1）在人胚胎颅面组织呈阳性，支持这些基因在腭发育中的作用。然而，基因表达谱在生长过程中会发生变化，因此我们建议未来CL/P研究中的基因表达应尽可能使用来自正确胚胎时间和地点的组织，以克服本研究中的偏倚。
Cleft lip and/or palate (CL/P) is a common congenital malformation with a complex etiology which is not fully elucidated yet. Epidemiological studies point to different etiologies in the cleft lip and palate subgroups, isolated cleft lip (CL), isolated cleft palate (CP) and combined cleft lip and palate (CLP). In order to understand the biological basis in these cleft lip and palate subgroups better we studied the expression profiles in human tissue from patients with CL/P. In each of the CL/P subgroups, samples were obtained from three patients and gene expression analysis was performed. Moreover, selected differentially expressed genes were analyzed by quantitative RT-PCR, and by immunohistochemical staining of craniofacial tissue from human embryos. Osteopontin (SPP1) and other immune related genes were significantly higher expressed in palate tissue from patients with CLP compared to CP and immunostaining in palatal shelves against SPP1, chemokine receptor 4 (CXCR4) and serglycin (PRG1) in human embryonic craniofacial tissue were positive, supporting a role for these genes in palatal development. However, gene expression profiles are subject to variations during growth and therefore we recommend that future gene expression in CL/P studies should use tissue from the correct embryonic time and place if possible, to overcome the biases in the presented study.