An Jungeun, González-Avalos Edahí, Chawla Ashu, Jeong Mira, López-Moyado Isaac F, Li Wei, Goodell Margaret A, Chavez Lukas, Ko Myunggon, Rao Anjana
Division of Signaling and Gene Expression, La Jolla Institute for Allergy and Immunology, La Jolla, California 92037, USA.
Stem Cells and Regenerative Medicine Center, Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Nat Commun. 2015 Nov 26;6:10071. doi: 10.1038/ncomms10071.
TET-family dioxygenases oxidize 5-methylcytosine (5mC) in DNA, and exert tumour suppressor activity in many types of cancers. Even in the absence of TET coding region mutations, TET loss-of-function is strongly associated with cancer. Here we show that acute elimination of TET function induces the rapid development of an aggressive, fully-penetrant and cell-autonomous myeloid leukaemia in mice, pointing to a causative role for TET loss-of-function in this myeloid malignancy. Phenotypic and transcriptional profiling shows aberrant differentiation of haematopoietic stem/progenitor cells, impaired erythroid and lymphoid differentiation and strong skewing to the myeloid lineage, with only a mild relation to changes in DNA modification. We also observe progressive accumulation of phospho-H2AX and strong impairment of DNA damage repair pathways, suggesting a key role for TET proteins in maintaining genome integrity.
TET家族双加氧酶可氧化DNA中的5-甲基胞嘧啶(5mC),并在多种癌症中发挥肿瘤抑制活性。即使在没有TET编码区突变的情况下,TET功能丧失也与癌症密切相关。在此我们表明,急性消除TET功能会在小鼠中诱导侵袭性、完全显性且细胞自主性髓系白血病的快速发展,这表明TET功能丧失在这种髓系恶性肿瘤中起致病作用。表型和转录谱分析显示造血干/祖细胞分化异常,红系和淋巴系分化受损,且强烈偏向髓系谱系,与DNA甲基化变化仅有轻微关联。我们还观察到磷酸化H2AX的逐渐积累以及DNA损伤修复途径的严重受损,这表明TET蛋白在维持基因组完整性中起关键作用。