CONSISTENT INTERGENIC SPLICING AND PRODUCTION OF MULTIPLE TRANSCRIPTS BETWEEN AML1 AT 21Q22 AND UNRELATED GENES AT 3Q26 IN (321)(Q26Q22) TRANSLOCATIONS
CONSISTENT INTERGENIC SPLICING AND PRODUCTION OF MULTIPLE TRANSCRIPTS BETWEEN AML1 AT 21Q22 AND UNRELATED GENES AT 3Q26 IN (321)(Q26Q22) TRANSLOCATIONS
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DOI：
10.1073/pnas.91.9.4004
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发表时间：
1994-04-26
影响因子：
11.1
通讯作者：
ROWLEY, JD
中科院分区：
文献类型：
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作者：
NUCIFORA, G;BEGY, CR;ROWLEY, JD
有两个基因与3号染色体Q26带异常患者的白血病有关：EVI1，可通过涉及3q26的染色体重排远距离激活；EAP，一种核糖体基因，在患有t(3；21)(q26.2；q22)的治疗相关性骨髓发育不良患者中与AML1融合。AML1是通过参与急性髓系白血病的t(8；21)(q22；q22)来鉴定的。在此，我们报道了在4例治疗相关的骨髓发育不良/急性髓系白血病患者和1例慢性髓细胞白血病急变期患者的白血病细胞中，一致鉴定出AML1和EAP之间或AML1与以前未识别的序列之间的融合转录本，我们将其命名为MDS1(MDS相关序列)，所有患者都具有t(3；21)。此外，我们还在一名与治疗相关的急性髓系白血病患者中发现了第三个嵌合转录本，AML1/EVI1。脉冲场凝胶电泳法确定了端粒最多的基因EAP和着丝粒最多的基因EVI1的顺序。结果表明，易位可能涉及多个基因，并在长距离影响基因表达。
Two genes have been implicated in leukemias of patients with abnormalities of chromosome 3, band q26: EVI1, which can be activated over long distances by chromosomal rearrangements involving 3q26, and EAP, a ribosomal gene that fuses with AML1 in a therapy-related myelodysplasia patient with a t(3;21)(q26.2;q22). AML1 was identified by its involvement in the t(8;21)(q22;q22) of acute myeloid leukemia. Here we report the consistent identification of fusion transcripts between AML1 and EAP or between AML1 and previously unidentified sequences that we named MDS1 (MDS-associated sequences) in the leukemic cells of four patients with therapy-related myelodysplasia/acute myeloid leukemia and in one patient with chronic myelogenous leukemia in blast crisis, all of whom had a t(3;21). In addition, we have identified a third chimeric transcript, AML1/EVI1, in one of the therapy-related acute myeloid leukemia patients. Pulsed-field gel electrophoresis established the order of the genes as EAP, the most telomeric, and EVI1, the most centromeric, gene. The results indicate that translocations could involve multiple genes and affect gene expression over long distances.