Panagopoulos I, Aman P, Fioretos T, Höglund M, Johansson B, Mandahl N, Heim S, Behrendtz M, Mitelman F
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Genes Chromosomes Cancer. 1994 Dec;11(4):256-62. doi: 10.1002/gcc.2870110408.
It has been shown that the gene ERG in 21q22 is rearranged in the t(16;21)(p11;q22) associated with acute myeloid leukemia (AML). ERG is a member of the ETS gene family and is fused with EWS in a subset of Ewing's sarcomas. EWS in 22q12 has a very high homology with FUS (also called TLS) in 16p11; the latter gene is rearranged in the t(12;16)(q13;p11) that characterizes myxoid liposarcoma. To investigate whether FUS is involved in the t(16;21) of AML, we used the Southern blot technique and polymerase chain reaction (PCR) to examine the bone marrow of a 3-year-old boy with a t(16;21)(p11;q22)-positive AML. Hybridization of Southern blot filters containing digested DNA with probes for FUS and ERG showed both germline and aberrant fragments. Using specific primers for the 5' part of FUS and the 3' part of ERG, we amplified a 4.4 kb genomic FUS/ERG DNA fragment from the leukemic sample. In a second PCR experiment, in which we used primers upstream of the 5' part of ERG and downstream of the 3' part of FUS, a 5.6 kb fragment was amplified. Blotting and hybridization with specific probes for FUS and ERG revealed that the amplified fragments consisted of FUS/ERG and ERG/FUS hybrid DNA. Both PCR fragments, when used as probes, detected germline ERG and FUS as well as aberrant fragments on Southern blot filters. The results suggest that the t(16;21) in AML leads to rearrangement and fusion of the FUS and ERG genes.(ABSTRACT TRUNCATED AT 250 WORDS)
研究表明，21q22区域的ERG基因在与急性髓系白血病（AML）相关的t(16;21)(p11;q22)中发生重排。ERG是ETS基因家族的成员，在一部分尤因肉瘤中与EWS融合。22q12的EWS与16p11的FUS（也称为TLS）具有很高的同源性；后一个基因在表征黏液样脂肪肉瘤的t(12;16)(q13;p11)中发生重排。为了研究FUS是否参与AML的t(16;21)，我们使用Southern印迹技术和聚合酶链反应（PCR）检测了一名患有t(16;21)(p11;q22)阳性AML的3岁男孩的骨髓。用FUS和ERG探针与含有消化后DNA的Southern印迹滤膜杂交，显示出种系片段和异常片段。使用FUS 5'部分和ERG 3'部分的特异性引物，我们从白血病样本中扩增出一个4.4 kb的基因组FUS/ERG DNA片段。在第二个PCR实验中，我们使用ERG 5'部分上游和FUS 3'部分下游的引物，扩增出一个5.6 kb的片段。用FUS和ERG特异性探针进行印迹杂交，显示扩增片段由FUS/ERG和ERG/FUS杂交DNA组成。当用作探针时，两个PCR片段在Southern印迹滤膜上均检测到种系ERG和FUS以及异常片段。结果表明AML中的t(16;21)导致FUS和ERG基因重排和融合。（摘要截短于250字）
