Department of Clinical Research, University of Bern, Switzerland.
Cell Mol Life Sci. 2011 Mar;68(6):951-64. doi: 10.1007/s00018-010-0576-3. Epub 2010 Nov 16.
FGFRL1 (fibroblast growth factor receptor like 1) is the most recently discovered member of the FGFR family. It contains three extracellular Ig-like domains similar to the classical FGFRs, but it lacks the protein tyrosine kinase domain and instead contains a short intracellular tail with a peculiar histidine-rich motif. The gene for FGFRL1 is found in all metazoans from sea anemone to mammals. FGFRL1 binds to FGF ligands and heparin with high affinity. It exerts a negative effect on cell proliferation, but a positive effect on cell differentiation. Mice with a targeted deletion of the Fgfrl1 gene die perinatally due to alterations in their diaphragm. These mice also show bilateral kidney agenesis, suggesting an essential role for Fgfrl1 in kidney development. A human patient with a frameshift mutation exhibits craniosynostosis, arguing for an additional role of FGFRL1 during bone formation. FGFRL1 contributes to the complexity of the FGF signaling system.
成纤维细胞生长因子受体样 1(fibroblast growth factor receptor like 1,FGFRL1)是最近发现的 FGFR 家族成员。它包含三个类似经典 FGFR 的细胞外 Ig 样结构域,但缺乏蛋白酪氨酸激酶结构域,而是包含一个带有独特组氨酸富集基序的短细胞内尾巴。FGFRL1 的基因存在于从海葵到哺乳动物的所有后生动物中。FGFRL1 与 FGF 配体和肝素具有高亲和力。它对细胞增殖起负作用,但对细胞分化起正作用。靶向敲除 Fgfrl1 基因的小鼠会在围产期因膈肌的改变而死亡。这些小鼠还表现出双侧肾脏发育不全,表明 Fgfrl1 在肾脏发育中具有重要作用。携带移码突变的人类患者表现出头颅缝早闭,这表明 FGFRL1 在骨骼形成过程中具有额外的作用。FGFRL1 增加了 FGF 信号系统的复杂性。