由于 ATRX 突变导致的 DNA 重组在端粒处的缺陷抑制
中文名称
通路描述
许多 ALT 标记阳性的肿瘤携带 ATRX 基因的功能丧失突变，编码染色质重塑蛋白 ATRX。ATRX 被认为与 DAXX 和组蛋白 H3F3A 一起抑制端粒处的 DNA 重组。有关综述，请参见 Heaphy 等，2011; Gocha 等，2014; Pickett 和 Reddel 2015; Amorim 等，2016。
英文描述
Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations Many tumors that are positive for markers of alternative lengthening of telomeres (ALT) harbor loss-of-function mutations in the ATRX gene, encoding a chromatin remodeling protein ATRX. ATRX is thought to act together with DAXX and histone H3F3A to inhibit DNA recombination at telomere ends. For review, please refer to Heaphy et al. 2011, Gocha et al. 2014, Pickett and Reddel 2015, Amorim et al. 2016.
所含基因
1 个基因