ARID1A
小结
ARID1A是抑癌基因，编码的蛋白是ATP依赖性染色质重塑复合物SNF/SWI的成员，通常是染色质抑制基因的转录激活所必需的。编码蛋白在染色质结构改变中起重要作用，例如各种细胞功能所需要的染色质结构改变：转录，DNA合成和修复。ARID1A与富含AT的DNA区域结合，有助于招募SWI/SWF复合物的其他成员，如SMARCA和BAF复合物。这些复合物一起通过核小体置换参与ATP依赖性染色质重塑，因此允许基因表达激活。在结肠癌的小鼠模型中，ARID1A丧失特异性地改变了增强子介导的基因调节。 携带ARID1A胚系突变将导致Coffin-Siris综合征，其特征在于发育迟缓和粗面部特征。此外，ARID1A已被鉴定为多种癌症类型的肿瘤抑制因子，包括妇科癌症，卵巢透明细胞癌和子宫内膜癌。
ARID1A, also known as BAF250A, is a member of the SWI/SNF chromatin-remodeling complex, and plays a role in altering chromatin structure for various cellular functions, including transcription, DNA synthesis and DNA repair. ARID1A binds to AT-rich regions of DNA and helps recruit other members of the SWI/SWF complex, such as SMARCA and BAF complexes. Together, these complexes are involved in ATP-dependent chromatin remodeling via nucleosome displacement and thus allow for gene expression activation. In a mouse model of colon cancer, ARID1A loss specifically altered enhancer-mediated gene regulation. Germline mutations in ARID1A result in Coffin-Siris syndrome, which is characterized by developmental delay and coarse facial features. Additionally, ARID1A has been identified as a tumor suppressor in multiple cancer types, including gynecologic cancers, ovarian clear cell carcinomas and endometrial cancers.