胞质 PDGFRA 和 PDGFRB 融合蛋白的信号传导
中文名称
通路描述
除了激活错义突变和同义缺失外，PDGFRA 和 PDGFRB 还受染色体重排引起的基因融合事件影响。PDGFR 融合通常由受体酪氨酸激酶的胞质域与细胞内蛋白的 N 端寡聚化域融合而成，导致无配体依赖的二聚化和持续激活（综述 Wang et al, 2016; Appiah-Kubi et al, 2017）。迄今为止，已识别约 35 种 PDGFR 融合伙伴，其中大多数与 PDGFRB 融合（综述 Appiah-Kubi et al, 2017）。PDGFRA 最常见的胞质融合伙伴是 FIP1L1，一种 RNA 加工因子（Cools et al, 2003; Stover et al, 2006; Simon et al, 2008; Andrae et al, 2008; Ozawa et al, 2010; Appiah-Kubi et al, 2017）。与 PDGFRB 融合的伙伴众多，但发生这些蛋白的情况罕见（Hidalgo-Curtis et al, 2010; 综述 Wang et al, 2016; Appiah-Kubi et al, 2017）。
英文描述
Signaling by cytosolic PDGFRA and PDGFRB fusion proteins In addition to activating missense mutations and in-frame deletions, PDGFRA and PDGFRB are also subject to gene fusion events arising from chromosomal rearrangements. PDGFR fusions often consist of the cytosolic domain of the receptor tyrosine kinase fused to the N-terminal oligomerization domain of an intracellular protein, leading to ligand-independent dimerization and constitutive activation (reviewed in Wang et al, 2016; Appiah-Kubi et al, 2017). To date there are about 35 identified PDGFR fusion partners, most of which form fusions with PDGFRB (reviewed in Appiah-Kubi et al, 2017). The most common cytosolic fusion partners of PDGFRA is FIP1L1, an RNA processing factor (Cools et al, 2003; Stover et al, 2006; Simon et al, 2008; Andrae et al, 2008; Ozawa et al, 2010; Appiah-Kubi et al, 2017). Fusion partners with PDGFRB are numerous but occurrence of these proteins is rare (Hidalgo-Curtis et al, 2010; reviewed in Wang et al, 2016; Appiah-Kubi et al, 2017).
所含基因
2 个基因