MUTATIONAL INACTIVATION OF THE P53 GENE IN THE HUMAN ERYTHROID LEUKEMIC K562 CELL-LINE
MUTATIONAL INACTIVATION OF THE P53 GENE IN THE HUMAN ERYTHROID LEUKEMIC K562 CELL-LINE
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DOI：
10.1016/0145-2126(93)90161-d
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发表时间：
1993-12-01
影响因子：
2.7
通讯作者：
FERRELL, RE
中科院分区：
文献类型：
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作者：
LAW, JC;RITKE, MK;FERRELL, RE
K562人慢性粒细胞白血病(CML)细胞系已被广泛用作研究血液系统恶性和红系分化的模型。对K562细胞系中P53基因的测序显示，K562细胞系第5外显子发生突变，其特征是在密码子135和136之间插入一个碱基(胞嘧啶)。这种移码突变导致了一个由147个氨基酸组成的N端截短蛋白。只有突变的序列存在，这表明正常的等位基因已经丢失。逆转录-聚合酶链式反应(RT-PCR)检测到P53转录本，但Western blotting和免疫组织化学染色未能检测到P53蛋白。在K562细胞系中发现了P53失活突变，进一步支持了P53突变在慢性粒细胞白血病髓系转化中的作用。
The K562 human chronic myelogenous leukemia (CML) cell line has attained widespread use as a model for studying hematologic malignancy and erythroid differentiation. Sequencing of the p53 gene in the K562 cell line demonstrated a mutation in exon 5 characterized by a single base insertion (cytosine) between codons 135 and 136. This frameshift mutation leads to an N-terminal truncated protein of 147 amino acids. Only the mutated sequence was present suggesting that the normal allele has been lost. Reverse transcription PCR (RT-PCR) detected a p53 transcript but Western blotting and immunohistochemical staining of cells failed to detect p53 protein. The identification of an inactivation mutation of p53 in the K562 cell line further supports the argument that p53 mutations play a role in myeloid blast transformation of CML.