WHSC1是原癌基因,编码蛋白是一种NSD2组蛋白赖氨酸甲基转移酶。WHSC1特异性甲基化组蛋白的H3K36残基并促进有利于基因转录的开放染色质状态。 WHSC1 / NSD2的激活增强了致癌H3K36me2依赖性转录程序,其包括诸如MET和PAK1的基因,并在体外和体内癌症模型中激活肿瘤发生。WHSC1在血液肿瘤中发生突变,包括急性淋巴细胞白血病和Mantle cell lymphoma。
The WHSC1 gene encodes the NSD2 histone lysine methyltransferase. WHSC1 specifically methylates the H3K36 residue of histones and promotes an open chromatin state that favors gene transcription. Activation of WHSC1/NSD2 enhances an oncogenic H3K36me2-dependent transcriptional program that includes genes such as MET and PAK1, and activates tumorigenesis in in vitro and in vivo cancer models. WHSC1 is mutated in acute lymphoblastic leukemia and Mantle cell lymphoma.
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