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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis
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The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis

机译：细胞外基质基因Frem1对于胚胎表皮的正常粘附至关重要

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摘要

Fraser syndrome is a rare recessive disorder characterized by cryptophthalmos, syndactyly, renal defects, and a range of other developmental abnormalities. Because of their extensive phenotypic overlap, the mouse blebbing mutants have been considered models of this disorder, and the recent isolation of mutations in Fras1 in both the blebbed mouse and human Fraser patients confirms this hypothesis. Here we report the identification of mutations in an extracellular matrix gene Fras1-related extracellular matrix gene 1 (Frem1) in both the classic head blebs mutant and in an N-ethyl-N-nitrosourea-induced allele. We show that inactivation of the gene results in the formation of in utero epidermal blisters beneath the lamina densa of the basement membrane and also in renal agenesis. Frem1 is expressed widely in the developing embryo in regions of epithelial/mesenchymal interaction and epidermal remodeling. Furthermore, Frem1 appears to act as a dermal mediator of basement membrane adhesion, apparently independently of the other known "blebs" proteins Fras1 and Grip1. Unlike both Frasl and Grip1 mutants, collagen VI and Frasl deposition in the basement membrane is normal, indicating that the protein plays an independent role in epidermal differentiation and is required for epidermal adhesion during embryonic development.
机译：弗雷泽综合症是一种罕见的隐性疾病，其特征为隐性眼球，综合征，肾功能不全和其他一系列发育异常。由于它们广泛的表型重叠，已将小鼠起泡突变体视为这种疾病的模型，最近对起泡的小鼠和人类Fraser患者中Fras1突变的分离证实了这一假设。在这里，我们报告在经典的头部气泡突变体和N-乙基-N-亚硝基脲诱导的等位基因中的细胞外基质基因Fras1相关的细胞外基质基因1（Frem1）中的突变鉴定。我们显示该基因的失活导致子宫内表皮水泡在基底膜的椎板层下方的形成以及在肾的发生中。 Frem1在上皮/间质相互作用和表皮重塑区域的发育胚胎中广泛表达。此外，Frem1似乎起着基底膜粘附的皮肤介质的作用，显然独立于其他已知的“气泡”蛋白Fras1和Grip1。与Frasl和Grip1突变体不同，胶原VI和Frasl在基底膜中的沉积是正常的，这表明该蛋白在表皮分化中起独立作用，并且在胚胎发育过程中是表皮粘附所必需的。

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