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首页> 外文期刊>Journal of genetics >Identification of an acute myeloid leukaemia associated noncoding somatic mutation at 3a?2 end of HOXA cluster
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Identification of an acute myeloid leukaemia associated noncoding somatic mutation at 3a?2 end of HOXA cluster

机译：鉴定急性髓性白血病在霍尔达群的3Aα2末端相关的非沉积体细胞突变

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Noncoding somatic mutations have been demonstrated to play important role in tumourigenesis. Here we show that there exists an acute myeloid leukaemia associated noncoding somatic mutation at 3a?2 terminal of conserved HOXA cluster. The mutation was identified in the bone marrow blasts but not peripheral blood mononuclear cells or buccal cells of two M3 (acute promyelocytic leukaemia, APL) type patients from 45 acute myeloid leukaemia patients. The mutation also existed in a pair of twins one of them developed acute myeloid leukaemia M4 (acute myelomonocytic leukaemia) type. The mutation resides in about 2-kb downstream of HOXA1 gene where a functional retinoic acid response element is located and also bound by histone demethylase KDM3B. Reporter assay showed that the mutation results in the upregulation of transcriptional activity and unresponsiveness to retinoic acid receptor. To sum up, we identified a new acute myeloid leukaemia associated noncoding somatic mutation.
机译：已经证明了非分量体突变在肿瘤内发挥重要作用。在这里，我们表明存在急性髓性白血病相关的保守Hoxa簇的2个末端的非分量体细胞突变。在骨髓爆炸中鉴定突变，但非外周血单核细胞或两种M3（急性早幼粒细胞白血病，APL）型患者的外周血单核细胞或口腔细胞，来自45名急性髓性白血病患者。该突变也存在于其中一对双胞胎中，其中一对突发肌骨髓白血病M4（急性骨髓细胞白血病）类型。该突变在霍可皂酸响应元件的下游突变为约2kb，其中官能视黄酸响应元件并由组蛋白脱甲基酶KDM3B结合。记者测定表明，突变导致转录活性的上调和对视黄酸受体的反应性。总而言之，我们确定了一种新的急性髓性白血病相关的非分量躯体突变。

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