Celli G, LaRochelle W J, Mackem S, Sharp R, Merlino G
Laboratory of Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
EMBO J. 1998 Mar 16;17(6):1642-55. doi: 10.1093/emboj/17.6.1642.
Despite a wealth of experimental data implicating fibroblast growth factor (FGF) signaling in various developmental processes, genetic inactivation of individual genes encoding specific FGFs or their receptors (FGFRs) has generally failed to demonstrate their role in vertebrate organogenesis due to early embryonic lethality or functional redundancy. Here we show that broad mid-gestational expression of a novel secreted kinase-deficient receptor, specific for a defined subset of the FGF superfamily, caused agenesis or severe dysgenesis of kidney, lung, specific cutaneous structures, exocrine and endocrine glands, and craniofacial and limb abnormalities reminiscent of human skeletal disorders associated with FGFR mutations. Analysis of diagnostic molecular markers revealed that this soluble dominant-negative mutant disrupted early inductive signaling in affected tissues, indicating that FGF signaling is required for growth and patterning in a broad array of organs and in limbs. In contrast, transgenic mice expressing a membrane-tethered kinase-deficient FGFR were viable. Our results demonstrate that secreted FGFR mutants are uniquely effective as dominant-negative agents in vivo, and suggest that related soluble receptor isoforms expressed in wild-type mouse embryos may help regulate FGF activity during normal development.
尽管有大量实验数据表明成纤维细胞生长因子(FGF)信号传导参与各种发育过程,但由于早期胚胎致死或功能冗余,编码特定FGF或其受体(FGFR)的单个基因的遗传失活通常未能证明它们在脊椎动物器官发生中的作用。在此我们表明,一种新型分泌型激酶缺陷受体在妊娠中期广泛表达,该受体对FGF超家族的特定亚群具有特异性,可导致肾脏、肺、特定皮肤结构、外分泌和内分泌腺发育不全或严重发育异常,以及颅面和肢体异常,类似于与FGFR突变相关的人类骨骼疾病。对诊断性分子标志物的分析表明,这种可溶性显性负性突变体破坏了受影响组织中的早期诱导信号,表明FGF信号传导是多种器官和肢体生长及模式形成所必需的。相比之下,表达膜结合激酶缺陷型FGFR的转基因小鼠是存活的。我们的结果表明,分泌型FGFR突变体在体内作为显性负性因子具有独特的有效性,并表明在野生型小鼠胚胎中表达的相关可溶性受体异构体可能有助于在正常发育过程中调节FGF活性。