Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells
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DOI：
10.2119/2007-00027.fanganiello
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发表时间：
2007-07-01
影响因子：
5.7
通讯作者：
Passos-Bueno, Maria Rita
中科院分区：
文献类型：
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作者：
Fanganiello, Roberto D.;Sertie, Andrea L.;Passos-Bueno, Maria Rita
Apert综合征(AS)是一种严重的颅缝融合症，由FGFR2基因显性GO功能缺失突变引起。由于骨膜在AS颅骨病理生理学中的作用尚不清楚，我们测试了AS骨膜细胞的成骨潜能(p.Ser252Trp突变)，并观察到这些细胞更倾向于成骨细胞系。为了描述与这一异常行为有关的基因表达谱，我们对7例AS患者(P.Ser252Trp)和匹配的对照组进行了冠状缝合骨膜细胞的整体基因表达分析。我们发现在AS样本中有263个基因的表达发生了显著变化(118个上调，145个下调；SNR>；=10.41，P
Apert syndrome (AS), a severe form of craniosynostosis, is caused by dominant go in-of-function mutations in FGFR2. Because the periosteurn contribution to AS cranial pathophysiology is unknown, we tested the osteogenic potential of AS periosteal cells (p.Ser252Trp mutation) and observed that these cells are more committed toward the osteoblast lineage. To delineate the gene expression profile involved in this abnormal behavior, we performed a global gene expression analysis of coronal suture periosteal cells from seven AS patients (p.Ser252Trp), and matched controls. We identified 263 genes with significantly altered expression in AS samples (118 upregulated, 145 downregulated; SNR >= 10.4 1, P