Tse W, Zhu W, Chen H S, Cohen A
Division of Immunology/Cancer Research and Medical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Blood. 1995 Feb 1;85(3):650-6.
Translocations involving chromosomal band 11q23 are associated with leukemias. These translocations fuse the MLL, a gene with sequence homology to the Drosophila trithorax, to genes from a number of other chromosomal loci. We have characterized two t(1;11)(q21;q23) translocations that fuse the MLL gene to a novel gene, AF1q on chromosomal band 1q21, in two infants with acute myelomonocytic leukemia (AMMOL). In one of these patients, der(11) represents an inframe fusion of the N-terminal portion of MLL gene to the complete AF1q open reading frame, whereas der(1) does not give rise to an open reading frame. This observation suggests that the N-terminal portion of MLL gene is critical for leukemogenesis in translocations involving band 11q23. The predicted wild-type AF-1q product is a 9-kD protein with no similarity to any other protein in the data banks. The AF1q mRNA is highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, AF1q was expressed in all leukemic cell lines tested.
涉及染色体带11q23的易位与白血病相关。这些易位将MLL（一个与果蝇三胸节基因具有序列同源性的基因）与许多其他染色体位点的基因融合。我们在两名急性粒单核细胞白血病（AMMOL）婴儿中鉴定了两种t(1;11)(q21;q23)易位，它们将MLL基因与位于染色体带1q21上的一个新基因AF1q融合。在其中一名患者中，der(11)代表MLL基因的N端部分与完整的AF1q开放阅读框的框内融合，而der(1)未产生开放阅读框。这一观察结果表明，MLL基因的N端部分在涉及11q23带的易位中对白血病发生至关重要。预测的野生型AF-1q产物是一种9-kD的蛋白质，与数据库中的任何其他蛋白质均无相似性。AF1q mRNA在胸腺中高度表达，但在外周淋巴组织中不表达。与它在正常造血组织中的有限分布相反，AF1q在所有测试过的白血病细胞系中均有表达。
