膜锚定 PDGFRA 或 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低频基因融合事件影响。迄今为止，已识别约 35 种 PDGFRA 或 B 融合伙伴，其中 PDGFRB 更为常见（综述 Appiah-Kubi et al, 2017）。尽管一些 PDGF 融合蛋白由于去除 PDGFR 跨膜区（TMD）而呈胞质结构，但一些融合保留了 TMD 并与细胞膜相连（Hidalgo-Curtis et al, 2010; Ozawa et al, 2010; Curtis et al, 2007; Medves et al, 2010; 综述 Appiah-Kubi et al, 2017）。PDGFRA 和 PDGFRB 最常见的跨膜融合伙伴是 ETV6（也称为 TEL1），一种转录抑制因子，具有已知的同源二聚化能力（Curtis et al, 2007; Golub et al, 1994; Andrae et al, 2008; 综述 de Braekeleer et al, 2012; Wang et al, 2016; Appiah-Kubi et al, 2017）。
英文描述
Signaling by membrane-tethered fusions of PDGFRA or PDGFRB In addition to activating missensse and in-frame deletion mutations, PDGFRA and PDGFRB are also subject to low frequency gene fusion events arising from chromosomal rearrangements. To date there are about 35 identified PDGFRA or B fusion partners, with PDGFRB being the more common partner (reviewed in Appiah-Kubi et al, 2017). Although some of the PDGF fusions proteins are cytosolic by virtue of removal of the PDGFR transmembrane region (TMD), a number of fusions retain the TMD and are linked to the plasma membrane (Hidalgo-Curtis et al, 2010; Ozawa et al, 2010; Curtis et al, 2007; Medves et al, 2010; reviewed in Appiah-Kubi et al, 2017). The most common transmembrane fusion partner of PDGFRA and PDGFRB is ETV6 (also known as TEL1), a transcriptional repressor with known ability to homodimerize (Curtis et al, 2007; Golub et al, 1994; Andrae et al, 2008; reviewed in de Braekeleer et al, 2012; Wang et al, 2016; Appiah-Kubi et al, 2017).
所含基因
2 个基因