Pekarsky Y, Rynditch A, Wieser R, Fonatsch C, Gardiner K
Eleanor Roosevelt Institute, Denver, Colorado 80206, USA.
Cancer Res. 1997 Sep 15;57(18):3914-9.
We have identified a novel gene, GR6, located within the leukemia breakpoint region of 3q21, that is normally expressed in early fetal development but not in adult peripheral blood. GR6 is activated in the UCSD-AML1 cell line and in a leukemic sample, both of which carry a t(3;3)(q21;q26). In UCSD-AML1, we have also identified fusion transcripts between the ecotropic viral insertion site I (EVI1) gene in 3q26 and GR6 and between EVI1 and Ribophorin I that maps 30 kb telomeric to GR6 in 3q21. All fusions splice the 5' ends of the 3q21 genes into exon 2 of the EVI1 gene, an event that is similar to the normal intergenic splicing of MDS1-EVI1 and to those previously documented in leukemias with t(3;21) and t(3;12), in which acute myelogenous leukemia 1-EVI1 fusions and ETV6-EVI1 fusions, respectively, occur. The Ribophorin I-EVI1 fusion in particular may be a common occurrence in t(3;3).
我们鉴定出一个位于3q21白血病断点区域内的新基因GR6，该基因通常在胎儿早期发育中表达，但在成人外周血中不表达。GR6在UCSD-AML1细胞系和一个白血病样本中被激活，这两个样本均携带t(3;3)(q21;q26)。在UCSD-AML1中，我们还鉴定出3q26上的亲嗜性病毒插入位点I（EVI1）基因与GR6之间以及EVI1与核糖体结合蛋白I之间的融合转录本，核糖体结合蛋白I位于3q21中GR6端粒方向下游30 kb处。所有融合都将3q21基因的5'端剪接到EVI1基因的外显子2中，这一事件类似于MDS1-EVI1的正常基因间剪接，也与先前在伴有t(3;21)和t(3;12)的白血病中记录的情况相似，在这些白血病中分别发生急性髓性白血病1-EVI1融合和ETV6-EVI1融合。特别是核糖体结合蛋白I-EVI1融合在t(3;3)中可能很常见。
