论文部分内容阅读
ATM为肿瘤抑制基因 ,编码的蛋白属于磷脂酰肌醇 3激酶家族成员 ,在DNA双链断裂诱导的信号级联转导通路中起关键性作用 ,可激活细胞周期的多个检查点 ,促进高保真的DNA同源重组修复。ATM蛋白对维持基因组及端粒的稳定也起重要作用。散发性淋巴系肿瘤如T幼淋巴细胞白血病 (T PLL)、外套细胞淋巴瘤 (MCL)和B慢性淋巴细胞白血病 (B CLL)可出现高频率的ATM基因杂合性缺失和核苷酸突变。ATM基因的功能失活与散发性淋巴系肿瘤的发病有关
ATM is a tumor suppressor gene and encodes a protein that belongs to the phosphatidylinositol 3 kinase family and plays a pivotal role in the signaling pathway of DNA double-strand break-induced signaling that activates multiple checkpoints in the cell cycle and promotes high-assurance Really DNA homologous recombination repair. ATM proteins also play an important role in maintaining genome and telomere stability. Sporadic lymphoid tumors such as T-lymphocytic leukemia (TLLP), mantle cell lymphoma (MCL), and B-chronic lymphocytic leukemia (B CLL) may exhibit high frequency of ATM gene loss of heterozygosity and nucleotide mutations. Inactivation of ATM genes is associated with the development of sporadic lymphoid tumors