Department of Biology, Ashoka University, Rajiv Gandhi Education City, Sonipat, Haryana, 131029, India.
J Mol Med (Berl). 2022 Oct;100(10):1355-1372. doi: 10.1007/s00109-022-02240-0. Epub 2022 Aug 15.
Phylogenetic analysis of human G protein-coupled receptors (GPCRs) divides these transmembrane signaling proteins into five groups: glutamate, rhodopsin, adhesion, frizzled, and secretin families, commonly abbreviated as the GRAFS classification system. The adhesion GPCR (aGPCR) sub-family comprises 33 different receptors in humans. Majority of the aGPCRs are orphan receptors with unknown ligands, structures, and tissue expression profiles. They have a long N-terminal extracellular domain (ECD) with several adhesion sites similar to integrin receptors. Many aGPCRs undergo autoproteolysis at the GPCR proteolysis site (GPS), enclosed within the larger GPCR autoproteolysis inducing (GAIN) domain. Recent breakthroughs in aGPCR research have created new paradigms for understanding their roles in organogenesis. They play crucial roles in multiple aspects of organ development through cell signaling, intercellular adhesion, and cell-matrix associations. They are involved in essential physiological processes like regulation of cell polarity, mitotic spindle orientation, cell adhesion, and migration. Multiple aGPCRs have been associated with the development of the brain, musculoskeletal system, kidneys, cardiovascular system, hormone secretion, and regulation of immune functions. Since aGPCRs have crucial roles in tissue patterning and organogenesis, mutations in these receptors are often associated with diseases with loss of tissue integrity. Thus, aGPCRs include a group of enigmatic receptors with untapped potential for elucidating novel signaling pathways leading to drug discovery. We summarized the current knowledge on how aGPCRs play critical roles in organ development and discussed how aGPCR mutations/genetic variants cause diseases.
人类 G 蛋白偶联受体 (GPCR) 的系统发生分析将这些跨膜信号蛋白分为五个家族:谷氨酸、视紫红质、黏附、卷曲和分泌素家族,通常缩写为 GRAFS 分类系统。黏附 GPCR(aGPCR)亚家族在人类中包含 33 种不同的受体。大多数 aGPCR 是孤儿受体,其配体、结构和组织表达谱未知。它们具有长的 N 端细胞外结构域 (ECD),其中包含几个类似于整合素受体的黏附位点。许多 aGPCR 在 GPCR 蛋白水解位点 (GPS) 处发生自水解,GPS 被包含更大 GPCR 自水解诱导 (GAIN) 结构域所包围。aGPCR 研究的最新突破为理解它们在器官发生中的作用创造了新的范例。它们通过细胞信号转导、细胞间黏附和细胞-基质关联,在器官发育的多个方面发挥关键作用。它们参与调节细胞极性、有丝分裂纺锤体取向、细胞黏附和迁移等重要的生理过程。多个 aGPCR 与大脑、骨骼肌肉系统、肾脏、心血管系统、激素分泌和免疫功能调节的发育有关。由于 aGPCR 在组织模式形成和器官发生中具有重要作用,这些受体的突变通常与组织完整性丧失相关的疾病有关。因此,aGPCR 包括一组具有未解之谜的受体,它们具有阐明导致药物发现的新信号通路的潜力。我们总结了目前关于 aGPCR 在器官发育中发挥关键作用的知识,并讨论了 aGPCR 突变/遗传变异如何导致疾病。