Stricker Sigmar, Rauschenberger Verena, Schambony Alexandra
Institute for Chemistry and Biochemistry, Freie Universität Berlin, Berlin, Germany.
Developmental Biology, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Curr Top Dev Biol. 2017;123:105-142. doi: 10.1016/bs.ctdb.2016.09.003. Epub 2016 Oct 31.
ROR-family receptor tyrosine kinases form a small subfamily of receptor tyrosine kinases (RTKs), characterized by a conserved, unique domain architecture. ROR RTKs are evolutionary conserved throughout the animal kingdom and act as alternative receptors and coreceptors of WNT ligands. The intracellular signaling cascades activated downstream of ROR receptors are diverse, including but not limited to ROR-Frizzled-mediated activation of planar cell polarity signaling, RTK-like signaling, and antagonistic regulation of WNT/β-Catenin signaling. In line with their diverse repertoire of signaling functions, ROR receptors are involved in the regulation of multiple processes in embryonic development such as development of the axial and paraxial mesoderm, the nervous system and the neural crest, the axial and appendicular skeleton, and the kidney. In humans, mutations in the ROR2 gene cause two distinct developmental syndromes, recessive Robinow syndrome (RRS; MIM 268310) and dominant brachydactyly type B1 (BDB1; MIM 113000). In Robinow syndrome patients and animal models, the development of multiple organs is affected, whereas BDB1 results only in shortening of the distal phalanges of fingers and toes, reflecting the diversity of functions and signaling activities of ROR-family RTKs. In this chapter, we give an overview on ROR receptor structure and function. We discuss their signaling functions and role in vertebrate embryonic development with a focus on those developmental processes that are affected by mutations in the ROR2 gene in human patients.
ROR家族受体酪氨酸激酶构成受体酪氨酸激酶(RTK)的一个小亚家族,其特征在于具有保守的独特结构域架构。ROR RTK在整个动物界进化保守,并作为WNT配体的替代受体和共受体发挥作用。ROR受体下游激活的细胞内信号级联多种多样,包括但不限于ROR-卷曲蛋白介导的平面细胞极性信号激活、类RTK信号以及WNT/β-连环蛋白信号的拮抗调节。与其多样的信号功能相一致,ROR受体参与胚胎发育中多个过程的调节,如轴旁和近轴中胚层、神经系统和神经嵴、轴骨和附肢骨骼以及肾脏的发育。在人类中,ROR2基因突变导致两种不同的发育综合征,隐性罗宾诺综合征(RRS;MIM 268310)和显性B1型短指症(BDB1;MIM 113000)。在罗宾诺综合征患者和动物模型中,多个器官的发育受到影响,而BDB1仅导致手指和脚趾远端指骨缩短,这反映了ROR家族RTK功能和信号活动的多样性。在本章中,我们概述了ROR受体的结构和功能。我们讨论了它们的信号功能以及在脊椎动物胚胎发育中的作用,重点关注那些受人类患者ROR2基因突变影响的发育过程。