NSD2(nuclear receptor-binding SET domain 2)是一种在黑色素瘤等多种肿瘤细胞中高表达的组蛋白甲基转移酶, 其在Wolf-Hirschhorn综合症(wolf-Hirschhorn syndrome,WHS)和多发性骨髓瘤(multiple myeloma,MM)疾病中表达异常的原因已经得到了较好的阐明。而NSD2在其它肿瘤中的表达为何失调还未阐明。本研究选用p53野生型的恶性黑色素瘤细胞系92-1作为细胞模型, 采用DNA损伤试剂依托泊苷处理和RNA干扰技术, 通过定量PCR和蛋白质免疫印迹的方法首次证实了p53-p21通路对NSD2具有抑制作用。

Nuclear Receptor-binding SET Domain 2(NSD2) is a histone methyltransferase that is reported out of control in Wolf-Hirschhorn syndrome(WHS) and many carcinoma cells including melanoma. However, except for the studies in WHS and multiple myeloma(MM), little is known about the mechanism that is responsible for its abnormal expression. Here, DNA damage agent etoposide and RNA interference were used to explore whether p53-p21 pathway affected the NSD2 expression in a p53 wild type myeloma cell line 92-1. It was found that p53 or p21 inhibited NSD2 expression. This is the first publication that relates p53-p21 pathway with NSD2 dysregulation.